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Human Gene Search Results

Unique ID Gene Symbol Gene Name Chromosome Loc Genetic Category Gene Ranking Biallelic # of Variants Associated Disorders # of Reports Primary Reference Display
GEN268 ABAT 4-aminobutyrate aminotransferase 16p13.2 Genetic Association
2
 8 8 Barnby G , et al. 2005 Edit
GEN749 ABCA10 ATP-binding cassette, sub-family A (ABC1), member 10 17q24.3 Rare single gene variant
2
 Yes 8 3 Lim ET , et al. 2013 Edit
GEN988 ABCA13 ATP binding cassette subfamily A member 13 7p12.3 Rare single gene variant
3
 30 11 Neale BM , et al. 2012 Edit
GEN590 ABCA7 ATP-binding cassette, sub-family A (ABC1), member 7 19p13.3 Rare single gene variant
3
 20 6 He Z , et al. 2013 Edit
GEN1379 ABCE1 ATP binding cassette subfamily E member 1 4q31.21 Rare single gene variant
2
 3 3 Satterstrom FK et al. 2020 Edit
GEN1316 ABL2 ABL proto-oncogene 2, non-receptor tyrosine kinase 1q25.2 Functional
3
 10 10 Iossifov I et al. 2014 Edit
GEN822 ACE angiotensin I converting enzyme 17q23.3 Rare single gene variant
2
 9 5 Firouzabadi N et al. 2016 Edit
GEN771 ACHE Acetylcholinesterase (Yt blood group) 7q22.1 Rare single gene variant
3
 6 7 Sanders SJ , et al. 2015 Edit
GEN1133 ACTB actin beta 7p22.1 Syndromic
3
 37 10 De Rubeis S , et al. 2014 Edit
GEN1087 ACTL6B actin like 6B 7q22.1 Rare single gene variant
2
 Yes 43 14 Bell S , et al. 2019 Edit
GEN672 ACTN4 actinin alpha 4 19q13.2 Rare single gene variant
2
 6 6 Li J , et al. 2015 Edit
GEN573 ACY1 aminoacylase 1 3p21.2 Syndromic
2
 Yes 16 12 Tylki-Szymanska A , et al. 2010 Edit
GEN002 ADA adenosine deaminase 20q13.12 Genetic Association
2
 6 8 Bottini N , et al. 2001 Edit
GEN567 ADAMTS18 ADAM metallopeptidase with thrombospondin type 1 motif 18 16q23.1 Rare single gene variant
2
 Yes 10 7 Peluso I , et al. 2013 Edit
GEN407 ADARB1 Adenosine deaminase, RNA-specific, B1 21q22.3 Functional
2
 11 6 Eran A , et al. 2012 Edit
GEN890 ADCY3 adenylate cyclase 3 2p23.3 Rare single gene variant
3
 7 4 De Rubeis S , et al. 2014 Edit
GEN470 ADCY5 Adenylate cyclase 5 3q21.1 Rare Single Gene variant
3
 16 10 O'Roak BJ , et al. 2012 Edit
GEN1340 ADGRL1 adhesion G protein-coupled receptor L1 19p13.12 Rare single gene variant
3
 13 5 De Rubeis S , et al. 2014 Edit
GEN274 ADK adenosine kinase 10q22.2 Rare Single Gene variant
Yes 2 2 Najmabadi H , et al. 2011 Edit
GEN471 ADNP Activity-dependent neuroprotector homeobox 20q13.13 Rare Single Gene variant
5
 202 82 O'Roak BJ , et al. 2012 Edit
GEN003 ADORA2A adenosine A2a receptor 22q11.23 Genetic association
2 7 Freitag CM , et al. 2009 Edit
GEN562 ADORA3 Adenosine A3 receptor 1p13.2 Functional
3
 8 4 Campbell NG , et al. 2013 Edit
GEN004 ADRB2 adrenergic, beta-2-, receptor, surface 5q32 Genetic Association
4 10 Cheslack-Postava K , et al. 2007 Edit
GEN005 ADSL adenylosuccinate lyase 22q13.1 Rare Single Gene variant
2
 10 9 Sivendran S , et al. 2004 Edit
GEN1108 ADSS2 adenylosuccinate synthase 2 1q44 Rare single gene variant
2
 2 3 De Rubeis S , et al. 2014 Edit
GEN289 AFF2 AF4/FMR2 family, member 2 Xq28 Syndromic
3
 46 21 Abrams MT , et al. 1997 Edit
GEN006 AFF4 AF4/FMR2 family, member 4 5q31.1 Rare Single Gene variant
2
 7 9 Sanders SJ , et al. 2012 Edit
GEN047 AGAP1 ArfGAP with GTPase domain, ankyrin repeat and PH domain 1 2q37.2 Rare Single Gene variant, Genetic Association
2
 17 10 Wassink TH , et al. 2005 Edit
GEN889 AGAP2 ArfGAP with GTPase domain, ankyrin repeat and PH domain 2 12q14.1 Rare single gene variant
3
 16 6 De Rubeis S , et al. 2014 Edit
GEN1214 AGAP5 ArfGAP with GTPase domain, ankyrin repeat and PH domain 5 10q22.2 Rare single gene variant
2
 4 2 Luo Y et al. 2020 Edit
GEN333 AGBL4 ATP/GTP binding protein-like 4 1p33 Rare Single Gene variant
16 3 Pinto D , et al. 2010 Edit
GEN253 AGMO alkylglycerol monooxygenase 7p21.2 Genetic Association
2
 14 8 Sebat J , et al. 2007 Edit
GEN1003 AGO1 argonaute 1, RISC catalytic component 1p34.3 Rare single gene variant
4
 45 15 Iossifov I et al. 2014 Edit
GEN1222 AGO2 argonaute RISC catalytic component 2 8q24.3 Syndromic
3
 20 2 Lessel D et al. 2020 Edit
GEN1066 AGO3 argonaute RISC catalytic component 3 1p34.3 Rare single gene variant
3
 9 8 De Rubeis S , et al. 2014 Edit
GEN1062 AGO4 argonaute RISC catalytic component 4 1p34.3 Rare single gene variant
2
 6 5 De Rubeis S , et al. 2014 Edit
GEN007 AGTR2 angiotensin II receptor, type 2 Xq23 Rare Single Gene variant
2
 8 5 Vervoort VS , et al. 2002 Edit
GEN824 AHDC1 AT-hook DNA binding motif containing 1 1p36.11-p35.3 Syndromic
4
 110 29 Iossifov I et al. 2014 Edit
GEN008 AHI1 Abelson helper integration site 1 6q23.3 Rare Single Gene variant
2
 31 22 Alvarez Retuerto AI , et al. 2008 Edit
GEN1227 AHNAK AHNAKnucleoprotein 11q12.3 Rare single gene variant
4
 55 6 Wang T et al. 2020 Edit
GEN761 AKAP9 A kinase (PRKA) anchor protein 9 7q21.2 Rare single gene variant
3
 17 8 Sanders SJ , et al. 2015 Edit
GEN510 ALDH1A3 aldehyde dehydrogenase 1 family member A3 15q26.3 Syndromic
2
 Yes 22 7 Fares-Taie L , et al. 2013 Edit
GEN1317 ALDH1L1 aldehyde dehydrogenase 1 family member L1 3q21.3 Rare single gene variant
3
 11 7 Iossifov I et al. 2014 Edit
GEN009 ALDH5A1 aldehyde dehydrogenase 5 family, member A1 (succinate-semialdehyde dehydrogenase ) 6p22.3 Syndromic
2
 Yes 15 16 Pearl PL , et al. 2003 Edit
GEN830 ALG6 ALG6, alpha-1,3-glucosyltransferase 1p31.3 Syndromic
1 2 Morava E , et al. 2016 Edit
GEN010 ALOX5AP arachidonate 5-lipoxygenase-activating protein 13q12.3 Functional
0 4 Hu VW , et al. 2006 Edit
GEN981 AMBRA1 autophagy and beclin 1 regulator 1 11p11.2 Functional
2
 6 8 Dere E , et al. 2014 Edit
GEN631 AMPD1 Adenosine monophosphate deaminase 1 1p13.2 Genetic association
3
 13 5 Xia K , et al. 2013 Edit
GEN526 AMT Aminomethyltransferase 3p21.31 Rare single gene variant
2
 Yes 3 2 Yu TW , et al. 2013 Edit
GEN587 ANK2 Ankyrin 2, neuronal 4q25-q26 Rare Single Gene variant
5
 199 34 Iossifov I , et al. 2012 Edit
GEN406 ANK3 ankyrin 3 10q21.2 Genetic Association
3
 50 34 Bi C , et al. 2012 Edit
GEN011 ANKRD11 ankyrin repeat domain 11 16q24.3 Rare Single Gene variant
5
 262 75 Marshall CR , et al. 2008 Edit
GEN1250 ANKRD17 ankyrin repeat domain 17 4q13.3 Rare single gene variant
4
 41 6 De Rubeis S , et al. 2014 Edit
GEN673 ANKS1B ankyrin repeat and sterile alpha motif domain containing 1B 12q23.1 Rare single gene variant
2
 25 6 Li J , et al. 2015 Edit
GEN1376 ANP32A acidic nuclear phosphoprotein 32 family member A 15q23 Functional
3
 2 4 Satterstrom FK et al. 2020 Edit
GEN609 ANXA1 Annexin A1 9q21.13 Rare single gene variant
0
 12 2 Correia CT , et al. 2014 Edit
GEN1258 AP1G1 adaptor related protein complex 1 subunit gamma 1 16q22.2 Rare single gene variant
3
 18 4 Usmani MA et al. 2021 Edit
GEN531 AP1S2 adaptor related protein complex 1 sigma 2 subunit Xp22.2 Syndromic
2
 11 7 Borck G , et al. 2008 Edit
GEN1408 AP2M1 adaptor related protein complex 2 subunit mu 1 3q27.1 Multigenic CNV
3
 13 9 Rolland T et al. 2023 Edit
GEN1148 AP2S1 adaptor related protein complex 2 subunit sigma 1 19q13.32 Rare single gene variant
2
 3 3 Iossifov I et al. 2014 Edit
GEN012 APBA2 amyloid beta (A4) precursor protein-binding, family A, member 2 15q13.1 Rare Single Gene variant
3
 12 8 Babatz TD , et al. 2009 Edit
GEN1014 APBB1 amyloid beta precursor protein binding family B member 1 11p15.4 Functional
3
 6 4 Iossifov I et al. 2014 Edit
GEN013 APC adenomatosis polyposis coli 5q22.2 Genetic Association
2
 7 13 Barber JC , et al. 1994 Edit
GEN655 APH1A APH1A gamma secretase subunit 1q21.2 Rare single gene variant
2
 3 3 De Rubeis S , et al. 2014 Edit
GEN570 APP Amyloid beta (A4) precursor protein 21q21.3 Functional
2
 2 5 Bailey AR , et al. 2013 Edit
GEN014 AR androgen receptor Xq12 Genetic Association
3 6 Henningsson S , et al. 2009 Edit
GEN1382 ARF3 ADP ribosylation factor 3 12q13.12 Rare single gene variant
2
 11 5 Feliciano P et al. 2019 Edit
GEN1261 ARFGEF1 ADP ribosylation factor guanine nucleotide exchange factor 1 8q13.2 Rare single gene variant
3
 21 5 Thomas Q et al. 2021 Edit
GEN317 ARHGAP11B Rho GTPase activating protein 11B 15q13.2 Rare Single Gene variant
3 3 Leblond CS , et al. 2012 Edit
GEN015 ARHGAP15 Rho GTPase activating protein 15 2q22.2-q22.3 Rare Single Gene variant
2
 5 9 O'Roak BJ , et al. 2011 Edit
GEN424 ARHGAP24 Rho GTPase activating protein 24 4q21.23-q21.3 Rare single gene variant
2
 2 2 Winiowiecka-Kowalnik B , et al. 2012 Edit
GEN1267 ARHGAP31 Rho GTPase activating protein 31 3q13.32-q13.33 Rare single gene variant
2
 8 3 Wilfert AB et al. 2021 Edit
GEN816 ARHGAP32 Rho GTPase activating protein 32 11q24.3 Multigenic CNV
3
 29 10 Akshoomoff N , et al. 2014 Edit
GEN713 ARHGAP33 Rho GTPase activating protein 33 19q13.12 Functional
2
 7 4 Schuster S , et al. 2015 Edit
GEN1002 ARHGAP5 Rho GTPase activating protein 5 14q12 Rare single gene variant
3
 10 6 Iossifov I et al. 2014 Edit
GEN1007 ARHGEF10 Rho guanine nucleotide exchange factor 10 8p23.3 Rare single gene variant
2
 12 6 Lu DH , et al. 2018 Edit
GEN1341 ARHGEF2 Rho/Rac guanine nucleotide exchange factor 2 1q22 Rare single gene variant
3
 7 7 De Rubeis S , et al. 2014 Edit
GEN715 ARHGEF9 Cdc42 guanine nucleotide exchange factor (GEF) 9 Xq11.1-q11.2 Rare single gene variant
4
 46 18 Machado CO , et al. 2015 Edit
GEN357 ARID1B AT-rich interaction domain 1B 6q25.3 Rare single gene variant
5
 212 86 Nord AS , et al. 2011 Edit
GEN1089 ARID2 AT-rich interaction domain 2 12q12 Rare single gene variant
4
 58 17 Iossifov I et al. 2014 Edit
GEN016 ARNT2 aryl-hydrocarbon receptor nuclear translocator 2 15q25.1 Syndromic
2
 11 15 Chakrabarti B , et al. 2009 Edit
GEN017 ARX aristaless related homeobox Xp21.3 Rare single gene variant
3
 62 27 Sherr EH 2003 Edit
GEN1039 ASAP2 ArfGAP with SH3 domain, ankyrin repeat and PH domain 2 2p25.1 Rare single gene variant
2
 10 5 De Rubeis S , et al. 2014 Edit
GEN1109 ASB14 ankyrin repeat and SOCS box containing 14 3p14.3 Rare single gene variant
2
 5 5 Iossifov I et al. 2014 Edit
GEN642 ASH1L Ash1 (absent, small, or homeotic)-like (Drosophila) 1q22 Rare single gene variant
5
 147 34 Willsey AJ , et al. 2013 Edit
GEN018 ASMT acetylserotonin O-methyltransferase Xp22.33 Rare Single Gene variant, Genetic Association
3
 22 11 Melke J , et al. 2007 Edit
GEN939 ASPM abnormal spindle microtubule assembly 1q31.3 Syndromic
4
 70 13 Iossifov I et al. 2014 Edit
GEN019 ASS1 argininosuccinate synthetase 9q34.11 Functional
0 3 Hu VW , et al. 2006 Edit
GEN020 ASTN2 astrotactin 2 9q33.1 Rare Single Gene variant
2
 37 20 Glessner JT , et al. 2009 Edit
GEN577 ASXL3 Additional sex combs like 3 (Drosophila) 18q12.1 Syndromic
5
 109 50 Dinwiddie DL , et al. 2013 Edit
GEN623 ATG7 Autophagy related 7 3p25.3 Functional
2
 Yes 18 10 Tang G , et al. 2014 Edit
GEN021 ATP10A Probable phospholipid-transporting ATPase VA 15q12 Genetic Association
2
 12 10 Nurmi EL , et al. 2003 Edit
GEN1046 ATP1A1 ATPase Na+/K+ transporting subunit alpha 1 1p13.1 Rare single gene variant
3
 12 8 De Rubeis S , et al. 2014 Edit
GEN829 ATP1A3 ATPase Na+/K+ transporting subunit alpha 3 19q13.2 Syndromic
3
 64 25 Demos MK , et al. 2014 Edit
GEN1313 ATP2B1 ATPase plasma membrane Ca2+ transporting 1 12q21.33 Syndromic
3
 13 2 Rahimi MJ et al. 2022 Edit
GEN273 ATP2B2 ATPase, Ca++ transporting, plasma membrane 2 3p25.3 Genetic Association
4
 31 15 Carayol J , et al. 2011 Edit
GEN941 ATP6V0A2 ATPase H+ transporting V0 subunit a2 12q24.31 Rare single gene variant
2
 23 5 Krumm N , et al. 2015 Edit
GEN831 ATP8A1 ATPase phospholipid transporting 8A1 4p13 Rare single gene variant
2
 4 5 Kerr DJ , et al. 2016 Edit
GEN411 ATRNL1 Attractin-like 1 10q25.3 Rare single gene variant
3
 7 7 Stark Z , et al. 2010 Edit
GEN288 ATRX alpha thalassemia/mental retardation syndrome X-linked Xq21.1 Syndromic
3
 45 33 Gibbons R 2006 Edit
GEN384 ATXN7 Ataxin 7 3p14.1 Rare single gene variant
2
 3 2 van Daalen E , et al. 2011 Edit
GEN022 AUTS2 activator of transcription and developmental regulatorAUTS2 7q11.22 Rare Single Gene variant
4
 118 64 Sultana R , et al. 2002 Edit
GEN788 AVP Arginine vasopressin 20p13 Functional
2 4 Feifel D , et al. 2009 Edit
GEN023 AVPR1A arginine vasopressin receptor 1A 12q14.2 Rare Single Gene variant, Genetic Association
2
 37 24 Yirmiya N , et al. 2006 Edit
GEN862 AVPR1B arginine vasopressin receptor 1B 1q32.1 Functional
5 8 Francis SM , et al. 2016 Edit
GEN924 AZGP1 alpha-2-glycoprotein 1, zinc-binding 7q22.1 Rare single gene variant
2
 5 4 Lim ET , et al. 2017 Edit
GEN1343 BACE1 beta-secretase 1 11q23.3 Functional
2
 2 4 Kim IB et al. 2022 Edit
GEN024 BAIAP2 BAI1-associated protein 2 17q25.3 Genetic Association
2
 11 15 Toma C , et al. 2010 Edit
GEN1318 BAIAP2L1 BAR/IMD domain containing adaptor protein 2 like 1 7q21.3-q22.1 Rare single gene variant
3
 9 6 Iossifov I et al. 2014 Edit
GEN975 BAZ2B bromodomain adjacent to zinc finger domain 2B 2q24.2 Rare single gene variant
4
 26 8 Iossifov I et al. 2014 Edit
GEN515 BBS4 Bardet-Biedl syndrome 4 15q24.1 Rare single gene variant
2
 8 6 Girirajan S , et al. 2013 Edit
GEN674 BCAS1 breast carcinoma amplified sequence 1 20q13.2 Rare single gene variant
2
 8 5 Li J , et al. 2015 Edit
GEN423 BCKDK Branched chain ketoacid dehydrogenase kinase 16p11.2 Rare single gene variant
2
 Yes 21 8 Novarino G , et al. 2012 Edit
GEN643 BCL11A B-cell CLL/lymphoma 11A (zinc finger protein) 2p16.1 Rare single gene variant
4
 42 26 Iossifov I , et al. 2012 Edit
GEN1423 BCL11B BCL11 transcription factor B 14q32.2 Syndromic/Functional
3
 42 7 et al. Edit
GEN025 BCL2 B-cell CLL/lymphoma 2 18q21.33 Functional
0 10 Nguyen A , et al. 2010 Edit
GEN1084 BCORL1 BCL6 corepressor like 1 Xq26.1 Rare single gene variant
3
 14 8 Shukla A , et al. 2019 Edit
GEN625 BDNF Brain-derived neurotrophic factor 11p14.1 Functional
2 13 Kyzar EJ , et al. 2012 Edit
GEN040 BICDL1 BICD family like cargo adaptor 1 12q24.23 Genetic Association
2 2 Wang K , et al. 2009 Edit
GEN1224 BICRA BRD4 interacting chromatin remodeling complex associated protein 19q13.33 Syndromic
3
 15 2 Barish S et al. 2020 Edit
GEN425 BIN1 bridging integrator 1 2q14.3 Rare single gene variant
2
 6 5 Connolly JJ , et al. 2012 Edit
GEN702 BIRC6 Baculoviral IAP repeat containing 6 2p22.3 Rare single gene variant
4
 50 13 Iossifov I , et al. 2012 Edit
GEN1310 BMAL1 basic helix-loop-helix ARNT like 1 11p15.3 Rare single gene variant
3
 11 9 Yang Z , et al. 2015 Edit
GEN1268 BMPR1B bone morphogenetic protein receptor type 1B 4q22.3 Rare single gene variant
2
 6 3 Wilfert AB et al. 2021 Edit
GEN595 BRAF v-raf murine sarcoma viral oncogene homolog B 7q34 Syndromic
3
 52 18 Alfieri P , et al. 2014 Edit
GEN337 BRCA2 breast cancer 2, early onset 13q13.1 Rare Single Gene variant
2
 13 8 Neale BM , et al. 2012 Edit
GEN1279 BRD1 bromodomain containing 1 22q13.33 Genetic association
3
 11 6 Wilfert AB et al. 2021 Edit
GEN970 BRD4 bromodomain containing 4 19p13.12 Rare single gene variant
3
 31 11 Iossifov I , et al. 2012 Edit
GEN820 BRINP1 BMP/retinoic acid inducible neural specific 1 9q33.1 Functional
0
 1 3 Kobayashi M , et al. 2014 Edit
GEN1219 BRINP3 BMP/retinoic acid inducible neural specific 3 1q31.1 Functional
2
 Yes 3 3 Schmitz-Abe K et al. 2020 Edit
GEN1080 BRSK2 BR serine/threonine kinase 2 11p15.5 Rare single gene variant
5
 33 12 De Rubeis S , et al. 2014 Edit
GEN1132 BRWD3 bromodomain and WD repeat domain containing 3 Xq21.1 Syndromic
3
 26 9 Field M , et al. 2007 Edit
GEN902 BST1 bone marrow stromal cell antigen 1 4p15.32 Multigenic CNV
0
 5 6 Yokoyama S , et al. 2015 Edit
GEN298 BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa (Mot1 homolog, S. cerevisiae) 10q23.32 Rare Single Gene variant
3
 16 9 Salyakina D , et al. 2011 Edit
GEN1095 BTRC beta-transducin repeat containing E3 ubiquitin protein ligase 10q24.32 Rare single gene variant
2
 4 4 De Rubeis S , et al. 2014 Edit
GEN544 C12orf57 Chromosome 12 open reading frame 57 12p13.31 Syndromic
2
 45 15 Akizu N , et al. 2013 Edit
GEN955 C15orf62 chromosome 15 open reading frame 62 15q15.1 Rare single gene variant
2
 3 3 O'Roak BJ , et al. 2012 Edit
GEN029 C4B complement component 4B 6p21.33 Genetic Association
0
 2 6 Odell D , et al. 2005 Edit
GEN030 CA6 carbonic anhydrase VI 1p36.23 Rare Single Gene variant
0
 5 7 Bucan M , et al. 2009 Edit
GEN707 CACNA1A Calcium channel, voltage-dependent, P/Q type, alpha 1A subunit 19p13.13 Rare single gene variant
4
 127 43 Damaj L , et al. 2015 Edit
GEN408 CACNA1B calcium voltage-gated channel subunit alpha1 B 9q34.3 Genetic association
3
 38 14 Yatsenko SA , et al. 2012 Edit
GEN031 CACNA1C calcium channel, voltage-dependent, L type, alpha 1C subunit 12p13.33 Syndromic
4
 86 63 Splawski I , et al. 2004 Edit
GEN032 CACNA1D calcium channel, voltage-dependent, L type, alpha 1D 3p21.1 Functional
4
 68 31 Jinnah HA , et al. 1999 Edit
GEN813 CACNA1E calcium voltage-gated channel subunit alpha1 E 1q25.3 Rare single gene variant
4
 71 23 O'Roak BJ , et al. 2012 Edit
GEN033 CACNA1F calcium channel, voltage-dependent, alpha 1F Xp11.23 Genetic Association
2
 9 9 Strom TM , et al. 1998 Edit
GEN034 CACNA1G calcium channel, voltage-dependent, T type, alpha 1G subunit 17q21.33 Genetic Association
3
 50 27 Strom SP , et al. 2009 Edit
GEN035 CACNA1H calcium channel, voltage-dependent, alpha 1H subunit 16p13.3 Rare Single Gene variant
4
 65 34 Splawski I , et al. 2006 Edit
GEN488 CACNA1I Calcium channel, voltage-dependent, T type, alpha 1I subunit 22q13.1 Genetic association
3
 22 10 Lu AT , et al. 2012 Edit
GEN1031 CACNA2D1 calcium voltage-gated channel auxiliary subunit alpha2delta 1 7q21.11 Rare single gene variant
2
 11 8 Iossifov I et al. 2014 Edit
GEN656 CACNA2D3 Calcium channel, voltage-dependent, alpha 2/delta subunit 3 3p21.1-p14.3 Rare single gene variant
4
 48 13 Iossifov I , et al. 2012 Edit
GEN1200 CACNB1 calcium voltage-gated channel auxiliary subunit beta 1 17q12 Rare single gene variant
2
 10 3 Trost B et al. 2020 Edit
GEN612 CACNB2 Calcium channel, voltage-dependent, beta 2 subunit 10p12.33-p12.31 Genetic association
3
 16 12 Breitenkamp AF , et al. 2014 Edit
GEN1409 CACNG2 calcium voltage-gated channel auxiliary subunit gamma 2 22q12.3 Rare single gene variant/Functional
2
 4 6 Rolland T et al. 2023 Edit
GEN1269 CAD carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase 2p23.3 Rare single gene variant
2
 8 6 Wilfert AB et al. 2021 Edit
GEN036 CADM1 cell adhesion molecule 1 11q23.3 Rare Single Gene variant
2
 6 10 Zhiling Y , et al. 2008 Edit
GEN670 CADM2 Cell adhesion molecule 2 3p12.1 Genetic association
2
 5 6 Casey JP , et al. 2011 Edit
GEN1079 CADPS calcium dependent secretion activator 3p14.2 Genetic association
2
 5 5 Grove J , et al. 2019 Edit
GEN037 CADPS2 Ca2+-dependent activator protein for secretion 2 7q31.32 Rare Single Gene variant
2
 24 13 Cisternas FA , et al. 2003 Edit
GEN864 CAMK2A calcium/calmodulin dependent protein kinase II alpha 5q32 Rare single gene variant
3
 25 12 Iossifov I et al. 2014 Edit
GEN985 CAMK2B calcium/calmodulin dependent protein kinase II beta 7p13 Syndromic
2
 20 11 Kry S , et al. 2017 Edit
GEN1435 CAMK2D calcium/calmodulin dependent protein kinase II delta 4q26 Rare single gene variant
3
 8 2 et al. Edit
GEN594 CAMK4 calcium/calmodulin dependent protein kinase IV 5q22.1 Genetic association
3
 6 6 Waltes R , et al. 2014 Edit
GEN322 CAMSAP2 calmodulin regulated spectrin-associated protein family, member 2 1q32.1 Rare Single Gene variant
0
 2 2 Leblond CS , et al. 2012 Edit
GEN291 CAMTA1 calmodulin binding transcription activator 1 1p36.31-p36.23 Rare single gene variant
3
 46 14 Mikhail FM , et al. 2011 Edit
GEN1373 CAMTA2 calmodulin binding transcription activator 2 17p13.2 Syndromic
2
 3 3 Zhou X et al. 2022 Edit
GEN772 CAPN12 Calpain 12 19q13.2 Rare single gene variant
3
 38 7 Sanders SJ , et al. 2015 Edit
GEN555 CAPRIN1 Cell cycle associated protein 1 11p13 Functional
4
 17 6 Jiang YH , et al. 2013 Edit
GEN928 CARD11 caspase recruitment domain family member 11 7p22.2 Rare single gene variant
2
 4 2 Lim ET , et al. 2017 Edit
GEN876 CASK calcium/calmodulin dependent serine protein kinase Xp11.4 Syndromic
3
 45 28 Iossifov I et al. 2014 Edit
GEN1350 CASKIN1 CASK interacting protein 1 16p13.3 Functional
3
 14 8 Zhou X et al. 2022 Edit
GEN1060 CASZ1 castor zinc finger 1 1p36.22 Rare single gene variant
4
 54 7 C Yuen RK et al. 2017 Edit
GEN1319 CAT catalase 11p13 Functional
2
 5 4 Iossifov I et al. 2014 Edit
GEN897 CBLN1 cerebellin 1 precursor 16q12.1 Functional
1 6 Krishnan V , et al. 2017 Edit
GEN039 CBS cystathionine beta-synthase 21q22.3 Functional, Negative association
2
 9 10 Levy HL , et al. 2002 Edit
GEN1396 CBX1 chromobox 1 17q21.32 Rare single gene variant
3
 6 3 Kuroda Y et al. 2023 Edit
GEN621 CC2D1A Coiled-coil and C2 domain containing 1A 19p13.12 Rare single gene variant
2
 Yes 28 18 Manzini MC , et al. 2014 Edit
GEN735 CCDC88C Coiled-coil domain containing 88C 14q32.11-q32.12 Rare single gene variant
3
 13 9 Krumm N , et al. 2015 Edit
GEN799 CCDC91 coiled-coil domain containing 91 12p11.22 Rare single gene variant
2
 5 6 Shen Y , et al. 2010 Edit
GEN1110 CCIN calicin 9p13.3 Rare single gene variant
2
 2 2 De Rubeis S , et al. 2014 Edit
GEN1040 CCNG1 cyclin G1 5q34 Rare single gene variant
0
 7 2 Kushima I , et al. 2018 Edit
GEN1035 CCNK cyclin K 14q32.2 Syndromic
2
 9 6 Fan Y , et al. 2018 Edit
GEN1097 CCSER1 coiled-coil serine rich protein 1 4q22.1 Rare single gene variant
2
 5 4 De Rubeis S , et al. 2014 Edit
GEN752 CCT4 Chaperonin containing TCP1, subunit 4 (delta) 2p15 Rare single gene variant
2
 2 3 Iossifov I et al. 2014 Edit
GEN969 CD276 CD276molecule 15q24.1 Rare single gene variant
2
 8 4 Li J , et al. 2017 Edit
GEN328 CD38 CD38 molecule 4p15.32 Genetic Association
2
 13 10 Munesue T , et al. 2010 Edit
GEN041 CD44 CD44 molecule (Indian blood group) 11p13 Functional
2
 2 5 Hu VW , et al. 2006 Edit
GEN380 CD99L2 CD99 molecule like 2 Xq28 Genetic association
2 1 Ramos PS , et al. 2012 Edit
GEN657 CDC42BPB CDC42 binding protein kinase beta (DMPK-like) 14q32.32 Rare single gene variant
4
 38 12 O'Roak BJ , et al. 2012 Edit
GEN042 CDH10 cadherin 10, type 2 (T2-cadherin) 5p14.2-p14.1 Genetic Association
3
 20 11 Wang K , et al. 2009 Edit
GEN615 CDH11 cadherin 11 16q21 Rare Single Gene variant/genetic association
3
 19 8 Crepel A , et al. 2014 Edit
GEN1041 CDH13 cadherin 13 16q23.3 Rare single gene variant
2
 13 6 Iossifov I et al. 2014 Edit
GEN1403 CDH2 cadherin 2 18q12.1 Rare single gene variant
3
 14 8 Miyake N et al. 2023 Edit
GEN043 CDH22 cadherin-like 22 20q13.12 Genetic Association
2 4 Wang K , et al. 2009 Edit
GEN044 CDH8 cadherin 8, type 2 16q21 Rare Single Gene variant
2
 11 12 Pagnamenta AT , et al. 2010 Edit
GEN045 CDH9 cadherin 9, type 2 (T1-cadherin) 5p14.1 Genetic Association
2
 14 7 Wang K , et al. 2009 Edit
GEN982 CDK13 cyclin dependent kinase 13 7p14.1 Rare single gene variant
4
 101 21 Hamilton MJ , et al. 2017 Edit
GEN1365 CDK16 cyclin dependent kinase 16 Xp11.3 Rare single gene variant
2
 4 3 Satterstrom FK et al. 2020 Edit
GEN1233 CDK19 cyclin dependent kinase 19 6q21 Rare single gene variant
4
 19 7 Iossifov I et al. 2014 Edit
GEN1342 CDK5RAP2 CDK5 regulatory subunit associated protein 2 9q33.2 Syndromic
3
 23 14 Kim IB et al. 2022 Edit
GEN1081 CDK8 cyclin dependent kinase 8 13q12.13 Syndromic
3
 18 5 Calpena E , et al. 2019 Edit
GEN046 CDKL5 cyclin-dependent kinase-like 5 Xp22.13 Syndromic
4
 Yes 127 58 Weaving LS , et al. 2004 Edit
GEN532 CDKN1B cyclin dependent kinase inhibitor 1B 12p13.1 Multigenic CNV/rare single gene variant
2
 Yes 2 1 Grey W , et al. 2013 Edit
GEN1201 CDON cell adhesion associated, oncogene regulated 11q24.2 Rare single gene variant
2
 15 4 Trost B et al. 2020 Edit
GEN507 CECR2 CECR2, histone acetyl-lysine reader 22q11.1-q11.21 Rare single gene variant
2
 8 3 Prasad A , et al. 2013 Edit
GEN1289 CELF2 CUGBP Elav-like family member 2 10p14 Rare single gene variant
3
 9 4 C Yuen RK et al. 2017 Edit
GEN487 CELF4 CUGBP, Elav-like family member 4 18q12.2 Functional
3
 15 15 Halgren C , et al. 2012 Edit
GEN523 CELF6 CUGBP, Elav-like family member 6 15q23 Genetic association/Rare single gene variant/Functional
2
 7 5 Dougherty JD , et al. 2013 Edit
GEN958 CEP135 centrosomal protein 135 4q12 Syndromic
3
 30 7 De Rubeis S , et al. 2014 Edit
GEN583 CEP290 Centrosomal protein 290kDa 12q21.32 Syndromic
3
 24 14 Coppieters F , et al. 2010 Edit
GEN257 CEP41 testis specific, 14 7q32.2 Rare Single Gene variant
3
 14 6 Korvatska O , et al. 2011 Edit
GEN1398 CERT1 ceramide transporter 1 5q13.3 Rare single gene variant
4
 40 7 Gehin C et al. 2023 Edit
GEN718 CGNL1 Cingulin-like 1 15q21.3 Rare single gene variant
2
 8 7 Krumm N , et al. 2015 Edit
GEN1134 CHAMP1 chromosome alignment maintaining phosphoprotein 1 13q34 Syndromic
4
 48 17 Hempel M , et al. 2015 Edit
GEN971 CHD1 chromodomain helicase DNA binding protein 1 5q15-q21.1 Rare single gene variant
3
 18 13 Neale BM , et al. 2012 Edit
GEN548 CHD2 Chromodomain helicase DNA binding protein 2 15q26.1 Syndromic
5
 206 80 Carvill GL , et al. 2013 Edit
GEN1048 CHD3 chromodomain helicase DNA binding protein 3 17p13.1 Rare single gene variant
4
 112 17 Iossifov I et al. 2014 Edit
GEN912 CHD5 chromodomain helicase DNA binding protein 5 1p36.31 Rare single gene variant
3
 30 11 Pisansky MT , et al. 2017 Edit
GEN280 CHD7 chromodomain helicase DNA binding protein 7 8q12.2 Syndromic
4
 63 46 Vissers LE , et al. 2004 Edit
GEN334 CHD8 chromodomain helicase DNA binding protein 8 14q11.2 Multigenic CNV
5
 315 104 O'Roak BJ , et al. 2012 Edit
GEN1303 CHD9 chromodomain helicase DNA binding protein 9 16q12.2 Rare single gene variant
3
 15 8 Iossifov I et al. 2014 Edit
GEN741 CHKB Choline kinase beta 22q13.33 Syndromic
2
 Yes 39 9 Haliloglu G , et al. 2015 Edit
GEN1186 CHM CHMRab escort protein Xq21.2 Rare single gene variant
3
 12 7 C Yuen RK et al. 2017 Edit
GEN949 CHMP1A charged multivesicular body protein 1A 16q24.3 Syndromic
2
 8 5 De Rubeis S , et al. 2014 Edit
GEN490 CHRM3 cholinergic receptor muscarinic 3 1q43 Multigenic CNV
2
 8 7 Petersen AK , et al. 2012 Edit
GEN292 CHRNA7 cholinergic receptor, nicotinic, alpha 7 15q13.3 Multigenic CNV
2
 35 16 Mikhail FM , et al. 2011 Edit
GEN498 CHRNB3 cholinergic receptor nicotinic beta 3 subunit 8p11.21 Rare single gene variant
0
 5 3 Prasad A , et al. 2013 Edit
GEN1320 CHST2 carbohydrate sulfotransferase 2 3q24 Rare single gene variant
2
 2 3 Iossifov I et al. 2014 Edit
GEN048 CHST5 carbohydrate sulfotransferase 5 16q23.1 Rare Single Gene variant
2
 2 6 O'Roak BJ , et al. 2011 Edit
GEN500 CIB2 Calcium and integrin binding family member 2 15q25.1 Rare single gene variant
0
 4 2 Prasad A , et al. 2013 Edit
GEN720 CIBAR2 CBY1 interacting BAR domain containing 2 16q24.1 Rare single gene variant
2
 3 3 Krumm N , et al. 2015 Edit
GEN882 CIC capicua transcriptional repressor 19q13.2 Rare single gene variant
4
 26 14 Iossifov I et al. 2014 Edit
GEN183 CIMAP1D CIMAP1 family member D 19p13.3 Rare Single Gene variant
2
 13 2 Bucan M , et al. 2009 Edit
GEN891 CLASP1 cytoplasmic linker associated protein 1 2q14.2-q14.3 Rare single gene variant
2
 5 4 De Rubeis S , et al. 2014 Edit
GEN1259 CLCN3 chloride voltage-gated channel 3 4q33 Rare single gene variant
3
 Yes 15 5 Engeland CE et al. 2020 Edit
GEN1118 CLCN4 chloride voltage-gated channel 4 Xp22.2 Syndromic
4
 71 11 Feliciano P et al. 2019 Edit
GEN1195 CLIP2 CAP-Gly domain containing linker protein 2 7q11.23 Genetic association
2 1 Yousaf A et al. 2020 Edit
GEN710 CLN8 Ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation) 8p23.3 Syndromic
2
 11 6 Egawa J , et al. 2015 Edit
GEN917 CLSTN2 calsyntenin 2 3q23 Functional
2
 Yes 3 5 Monies D , et al. 2017 Edit
GEN579 CLSTN3 Calsyntenin 3 12p13.31 Functional
2
 6 7 Pettem KL , et al. 2013 Edit
GEN349 CLTCL1 clathrin, heavy chain-like 1 22q11.21 Rare single gene variant
2
 Yes 27 8 Chahrour MH , et al. 2012 Edit
GEN382 CMIP c-Maf inducing protein 16q23.2-q23.3 Genetic Association
0
 20 6 Van der Aa N , et al. 2012 Edit
GEN1098 CMPK2 cytidine/uridine monophosphate kinase 2 2p25.2 Rare single gene variant
2
 4 4 Iossifov I et al. 2014 Edit
GEN925 CNGB3 cyclic nucleotide gated channel beta 3 8q21.3 Rare single gene variant
3
 13 6 De Rubeis S , et al. 2014 Edit
GEN865 CNKSR2 connector enhancer of kinase suppressor of Ras 2 Xp22.12 Syndromic
4
 33 14 et al. 2017 Edit
GEN1191 CNOT1 CCR4-NOT transcription complex subunit 1 16q21 Rare single gene variant
3
 47 9 Iossifov I et al. 2014 Edit
GEN866 CNOT3 CCR4-NOT transcription complex subunit 3 19q13.42 Rare single gene variant
4
 44 20 et al. 2017 Edit
GEN049 CNR1 cannabinoid receptor 1 (brain) 6q15 Genetic Association
2
 34 8 Chakrabarti B , et al. 2006 Edit
GEN537 CNR2 Cannabinoid receptor 2 (macrophage) 1p36.11 Genetic association
0
 7 7 Siniscalco D , et al. 2013 Edit
GEN306 CNTN3 contactin 3 3p12.3 Rare Single Gene variant
2
 6 6 Vaags AK , et al. 2012 Edit
GEN050 CNTN4 contactin 4 3p26.3-p26.2 Syndromic
3
 29 27 Roohi J , et al. 2008 Edit
GEN385 CNTN5 Contactin 5 11q22.1 Rare single gene variant
3
 36 11 van Daalen E , et al. 2011 Edit
GEN386 CNTN6 Contactin 6 3p26.3 Rare single gene variant
3
 69 17 van Daalen E , et al. 2011 Edit
GEN051 CNTNAP2 contactin associated protein-like 2 7q35-q36.1 Syndromic
4
 174 98 Arking DE , et al. 2008 Edit
GEN307 CNTNAP3 contactin associated protein-like 3 9p12 Rare Single Gene variant
3
 10 7 Vaags AK , et al. 2012 Edit
GEN616 CNTNAP4 Contactin associated protein-like 4 16q23.1 Rare Single Gene variant
3
 32 15 Karayannis T , et al. 2014 Edit
GEN052 CNTNAP5 contactin associated protein-like 5 2q14.3 Genetic Association
3
 24 16 Pagnamenta AT , et al. 2010 Edit
GEN964 COL28A1 collagen type XXVIII alpha 1 chain 7p21.3 Rare single gene variant
3
 44 5 Krumm N , et al. 2015 Edit
GEN214 COP1 COP1 E3 ubiquitin ligase 1q25.1-q25.2 Genetic Association
2
 3 10 Glessner JT , et al. 2009 Edit
GEN1169 CORO1A coronin 1A 16p11.2 Rare single gene variant
2
 4 3 Satterstrom FK et al. 2020 Edit
GEN1033 CPEB4 cytoplasmic polyadenylation element binding protein 4 5q35.2 Functional
2
 2 3 Parras A , et al. 2018 Edit
GEN1375 CPSF7 cleavage and polyadenylation specific factor 7 11q12.2 Rare single gene variant
2
 8 7 C Yuen RK et al. 2017 Edit
GEN963 CPT2 carnitine palmitoyltransferase 2 1p32.3 Rare single gene variant
3
 10 5 Li J , et al. 2017 Edit
GEN1121 CPZ carboxypeptidase Z 4p16.1 Rare single gene variant
2
 12 5 De Rubeis S , et al. 2014 Edit
GEN285 CREBBP CREB binding protein 16p13.3 Syndromic
4
 120 41 Barnby G , et al. 2005 Edit
GEN844 CRHR2 corticotropin releasing hormone receptor 2 7p14.3 Functional
2
 2 5 Shemesh Y , et al. 2016 Edit
GEN1130 CSDE1 cold shock domain containing E1 1p13.2 Rare single gene variant
4
 31 7 Iossifov I et al. 2014 Edit
GEN596 CSMD1 CUB and Sushi multiple domains 1 8p23.2 Rare Single Gene variant
4
 40 19 Cukier HN , et al. 2014 Edit
GEN1309 CSMD3 CUB and Sushi multiple domains 3 8q23.3 Rare single gene variant
3
 33 10 Floris C et al. 2008 Edit
GEN330 CSNK1D casein kinase 1, delta 17q25.3 Rare Single Gene variant
2
 5 4 Pinto D , et al. 2010 Edit
GEN996 CSNK1E casein kinase 1 epsilon 22q13.1 Functional
3
 7 8 De Rubeis S , et al. 2014 Edit
GEN1221 CSNK1G1 casein kinase 1 gamma 1 15q22.31 Rare single gene variant
3
 6 3 Gold NB et al. 2020 Edit
GEN1196 CSNK2A1 casein kinase 2 alpha 1 20p13 Rare single gene variant
4
 46 17 Iossifov I et al. 2014 Edit
GEN1254 CSNK2B casein kinase 2 beta 6p21.33 Syndromic
2
 62 11 Poirier K et al. 2017 Edit
GEN549 CTCF CCCTC-binding factor 16q22.1 Functional
4
 84 25 Ishihara K , et al. 2006 Edit
GEN1023 CTNNA2 catenin alpha 2 2p12 Syndromic
2
 10 5 Schaffer AE , et al. 2018 Edit
GEN053 CTNNA3 catenin (cadherin-associated protein), alpha 3 10q21.3 Genetic Association
3
 Yes 62 19 Wang K , et al. 2009 Edit
GEN472 CTNNB1 catenin beta 1 3p22.1 Rare Single Gene variant
4
 127 41 O'Roak BJ , et al. 2012 Edit
GEN711 CTNND2 Catenin (cadherin-associated protein), delta 2 5p15.2 Rare single gene variant
3
 28 15 Turner TN , et al. 2015 Edit
GEN1334 CTR9 CTR9homolog, Paf1/RNA polymerase II complex component 11p15.4 Rare single gene variant
3
 29 9 De Rubeis S , et al. 2014 Edit
GEN054 CTTNBP2 cortactin binding protein 2 7q31.31 Rare Single Gene variant
3
 45 15 Cheung J , et al. 2001 Edit
GEN409 CUL3 Cullin 3 2q36.2 Rare single gene variant
4
 56 35 O'Roak BJ , et al. 2012 Edit
GEN719 CUL7 Cullin 7 6p21.1 Rare single gene variant
3
 27 8 Iossifov I et al. 2014 Edit
GEN847 CUX1 cut like homeobox 1 7q22.1 Functional
3
 Yes 46 14 Doan RN , et al. 2016 Edit
GEN1011 CUX2 cut like homeobox 2 12q24.11-q24.12 Rare single gene variant
3
 30 15 De Rubeis S , et al. 2014 Edit
GEN599 CX3CR1 Chemokine (C-X3-C motif) receptor 1 3p22.2 Functional
2
 9 4 Zhan Y , et al. 2014 Edit
GEN055 CXCR3 chemokine (C-X-C motif) receptor 3 Xq13.1 Rare Single Gene variant
2
 4 9 Piton A , et al. 2010 Edit
GEN320 CYFIP1 cytoplasmic FMR1 interacting protein 1 15q11.2 Multigenic CNV
3
 15 23 Leblond CS , et al. 2012 Edit
GEN801 CYLC2 cylicin, basic protein of sperm head cytoskeleton 2 9q31.1 Rare single gene variant
2
 3 4 Levy D , et al. 2011 Edit
GEN056 CYP11B1 cytochrome P450, family 11, subfamily B, polypeptide 1 8q24.3 Syndromic
2 4 Chakrabarti B , et al. 2009 Edit
GEN1017 CYP27A1 cytochrome P450 family 27 subfamily A member 1 2q35 Syndromic
0
 15 6 Stelten BML , et al. 2017 Edit
GEN057 DAB1 disabled homolog 1 (Drosophila) 1p32.2-p32.1 Functional
1 7 Fatemi SH , et al. 2005 Edit
GEN508 DAGLA diacylglycerol lipase alpha 11q12.2 Rare single gene variant
3
 42 7 Prasad A , et al. 2013 Edit
GEN058 DAPK1 death-associated protein kinase 1 9q21.33 Functional
3
 14 10 Hu VW , et al. 2006 Edit
GEN494 DAPP1 Dual adaptor of phosphotyrosine and 3-phosphoinositides 4q23 Rare single gene variant
2
 4 3 Prasad A , et al. 2013 Edit
GEN1193 DCC DCCnetrin 1 receptor 18q21.2 Genetic association
2
 7 6 Wu Y et al. 2020 Edit
GEN059 DCTN5 dynactin 5 16p12.2 Rare Single Gene variant
2
 2 4 O'Roak BJ , et al. 2011 Edit
GEN060 DCUN1D1 DCN1, defective in cullin neddylation 1, domain containing 1 (S. cerevisiae) 3q26.33 Functional
0 3 Mas C , et al. 2000 Edit
GEN061 DCX doublecortin Xq23 Rare Single Gene variant
2
 13 13 Vourc'h P , et al. 2002 Edit
GEN378 DDC dopa decarboxylase 7p12.2-p12.1 Genetic association
2
 6 7 Toma C , et al. 2012 Edit
GEN1204 DDHD2 DDHD domain containing 2 8p11.23 Rare single gene variant
2
 6 7 Matoba N et al. 2020 Edit
GEN062 DDX11 DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 12p11.21 Functional
0 3 Hu VW , et al. 2006 Edit
GEN1253 DDX23 DEAD-box helicase 23 12q13.12 Rare single gene variant
2
 10 2 Burns W et al. 2021 Edit
GEN745 DDX3X DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked Xp11.4 Rare single gene variant
5
 340 53 Snijders Blok L , et al. 2015 Edit
GEN332 DDX53 DEAD (Asp-Glu-Ala-Asp) box polypeptide 53 Xp22.11 Rare Single Gene variant
2
 9 5 Pinto D , et al. 2010 Edit
GEN610 DEAF1 DEAF1 transcription factor 11p15.5 Rare single gene variant
5
 90 32 Vulto-van Silfhout AT , et al. 2014 Edit
GEN825 DENR density-regulated protein 12q24.31 Rare single gene variant
3
 3 4 Neale BM , et al. 2012 Edit
GEN541 DEPDC5 DEP domain containing 5 22q12.2-q12.3 Syndromic
3
 106 23 Dibbens LM , et al. 2013 Edit
GEN1389 DGKI diacylglycerol kinase iota 7q33 Genetic association
2
 3 4 Ruzzo EK , et al. 2019 Edit
GEN833 DGKK diacylglycerol kinase kappa Xp11.22 Functional
0 1 Tabet R , et al. 2016 Edit
GEN675 DGKZ diacylglycerol kinase zeta 11p11.2 Rare single gene variant
2
 5 3 Li J , et al. 2015 Edit
GEN063 DHCR7 7-dehydrocholesterol reductase 11q13.4 Syndromic
2
 37 20 Tierney E , et al. 2001 Edit
GEN987 DHX30 DExH-box helicase 30 3p21.31 Syndromic
3
 49 11 Lessel D , et al. 2017 Edit
GEN1405 DHX9 DExH-box helicase 9 1q25.3 Rare single gene variant
3
 25 5 Yamada M et al. 2023 Edit
GEN064 DIAPH3 Diaphanous-related formin 3 13q21.2 Rare Single Gene variant
2
 Yes 11 16 Vorstman JA , et al. 2010 Edit
GEN644 DIP2A DIP2 disco-interacting protein 2 homolog A (Drosophila) 21q22.3 Rare single gene variant
3
 18 14 Iossifov I , et al. 2012 Edit
GEN883 DIP2C disco interacting protein 2 homolog C 10p15.3 Rare single gene variant
4
 29 7 Iossifov I et al. 2014 Edit
GEN028 DIPK2A divergent protein kinase domain 2A 3q24 Rare Single Gene variant
3 3 Morrow EM , et al. 2008 Edit
GEN065 DISC1 disrupted in schizophrenia 1 1q42.2 Syndromic
2
 36 38 Kilpinen H , et al. 2007 Edit
GEN852 DIXDC1 DIX domain containing 1 11q23.1 Functional
4
 48 6 Martin PM , et al. 2016 Edit
GEN676 DLG1 discs large MAGUK scaffold protein 1 3q29 Rare single gene variant
3
 12 6 Li J , et al. 2015 Edit
GEN1107 DLG2 discs large MAGUK scaffold protein 2 11q14.1 Rare single gene variant
2
 26 14 De Rubeis S , et al. 2014 Edit
GEN412 DLG4 discs large MAGUK scaffold protein 4 17p13.1 Functional
5
 84 25 Feyder M , et al. 2010 Edit
GEN677 DLGAP1 DLG associated protein 1 18p11.31 Rare single gene variant
3
 18 13 Li J , et al. 2015 Edit
GEN066 DLGAP2 discs, large (Drosophila) homolog-associated protein 2 8p23.3 Rare Single Gene variant
3
 36 18 Marshall CR , et al. 2008 Edit
GEN550 DLGAP3 DLG associated protein 3 1p34.3 Functional
2
 15 12 Welch JM , et al. 2007 Edit
GEN1078 DLGAP4 DLG associated protein 4 20q11.23 Functional
2
 4 4 Schob C , et al. 2019 Edit
GEN1094 DLL1 delta like canonical Notch ligand 1 6q27 Rare single gene variant
3
 19 6 O'Roak BJ , et al. 2014 Edit
GEN067 DLX1 distal-less homeobox 1 2q31.1 Genetic Association
2
 5 9 Liu X , et al. 2008 Edit
GEN068 DLX2 distal-less homeobox 2 2q31.1 Genetic Association
2 11 Liu X , et al. 2008 Edit
GEN1063 DLX3 distal-less homeobox 3 17q21.33 Rare single gene variant
2
 7 4 Iossifov I et al. 2014 Edit
GEN069 DLX6 distal-less homeobox 6 7q21.3 Rare Single Gene variant
2
 4 10 Nakashima N , et al. 2009 Edit
GEN070 DMD dystrophin (muscular dystrophy, Duchenne and Becker types) Xp21.2-p21.1 Syndromic
3
 49 46 Wu JY , et al. 2006 Edit
GEN071 DMPK dystrophia myotonica-protein kinase 19q13.32 Syndromic
3
 16 12 Ekstrm AB , et al. 2008 Edit
GEN1120 DMWD DM1 locus, WD repeat containing 19q13.32 Rare single gene variant
2
 5 4 C Yuen RK et al. 2017 Edit
GEN736 DMXL2 Dmx-like 2 15q21.2 Rare single gene variant
3
 9 9 Iossifov I et al. 2014 Edit
GEN703 DNAH10 Dynein, axonemal, heavy chain 10 12q24.31 Rare single gene variant
4
 101 10 Iossifov I , et al. 2012 Edit
GEN937 DNAH17 dynein axonemal heavy chain 17 17q25.3 Rare single gene variant
3
 20 9 De Rubeis S , et al. 2014 Edit
GEN966 DNAH3 dynein axonemal heavy chain 3 16p12.3 Rare single gene variant
4
 147 8 Krumm N , et al. 2015 Edit
GEN426 DNAJC19 DnaJ heat shock protein family (Hsp40) member C19 3q26.33 Functional
0 1 Anitha A , et al. 2012 Edit
GEN395 DNER Delta/notch-like EGF repeat containing 2q36.3 Genetic association
2
 4 3 Anney R , et al. 2012 Edit
GEN1426 DNM1 dynamin 1 9q34.11 Rare single gene variant
3
 35 10 et al. Edit
GEN427 DNM1L Dynamin 1-like 12p11.21 Functional
2
 10 9 Anitha A , et al. 2012 Edit
GEN762 DNMT3A DNA (cytosine-5-)-methyltransferase 3 alpha 2p23.3 Rare single gene variant
4
 116 32 Sanders SJ , et al. 2015 Edit
GEN748 DOCK1 Dedicator of cytokinesis 1 10q26.2 Rare single gene variant
2
 3 3 Griswold AJ , et al. 2015 Edit
GEN539 DOCK10 Dedicator of cytokinesis 10 2q36.2 Rare single gene variant
2
 Yes 4 2 Nava C , et al. 2013 Edit
GEN603 DOCK4 Dedicator of cytokinesis 4 7q31.1 Genetic association/multigenic CNV
2
 13 11 Maestrini E , et al. 2009 Edit
GEN853 DOCK8 dedicator of cytokinesis 8 9p24.3 Rare single gene variant
3
 33 12 De Rubeis S , et al. 2014 Edit
GEN557 DOLK dolichol kinase 9q34.11 Syndromic
0
 Yes 4 4 Helander A , et al. 2013 Edit
GEN072 DPP10 Dipeptidyl-peptidase 10 2q14.1 Rare Single Gene variant
2
 16 13 Marshall CR , et al. 2008 Edit
GEN1111 DPP3 dipeptidyl peptidase 3 11q13.2 Rare single gene variant
2
 6 4 De Rubeis S , et al. 2014 Edit
GEN750 DPP4 Dipeptidyl-peptidase 4 2q24.2 Rare single gene variant
2
 Yes 6 6 Lim ET , et al. 2013 Edit
GEN073 DPP6 dipeptidyl-peptidase 6 7q36.2 Genetic Association
3
 28 28 Marshall CR , et al. 2008 Edit
GEN074 DPYD dihydropyrimidine dehydrogenase 1p21.3 Rare Single Gene variant
2
 30 15 Marshall CR , et al. 2008 Edit
GEN998 DPYSL2 dihydropyrimidinase like 2 8p21.2 Genetic association
2
 6 17 De Rubeis S , et al. 2014 Edit
GEN991 DPYSL3 dihydropyrimidinase like 3 5q32 Rare single gene variant
2
 3 3 Iossifov I et al. 2014 Edit
GEN576 DRD1 Dopamine receptor D1 5q35.2 Genetic association
4 4 Hettinger JA , et al. 2008 Edit
GEN358 DRD2 Dopamine receptor D2 11q23.2 Rare single gene variant
2
 11 7 Hettinger JA , et al. 2012 Edit
GEN075 DRD3 dopamine receptor D3 3q13.31 Genetic Association
2
 6 9 de Krom M , et al. 2008 Edit
GEN645 DSCAM Down syndrome cell adhesion molecule 21q22.2 Rare single gene variant
4
 102 18 Iossifov I et al. 2014 Edit
GEN581 DST Dystonin 6p12.1 Rare single gene variant
3
 27 11 Kenny EM , et al. 2013 Edit
GEN836 DUSP15 dual specificity phosphatase 15 20q11.21 Rare single gene variant
2
 10 7 Tian Y , et al. 2016 Edit
GEN323 DUSP22 dual specificity phosphatase 22 6p25.3 Rare Single Gene variant
1 1 Leblond CS , et al. 2012 Edit
GEN796 DVL1 Dishevelled segment polarity protein 1 1p36.33 Functional
0 3 Lijam N , et al. 1997 Edit
GEN797 DVL3 Dishevelled segment polarity protein 3 3q27.1 Rare single gene variant
2
 4 6 Dong S , et al. 2014 Edit
GEN516 DYDC1 DPY30 domain containing 1 10q23.1 Multigenic CNV
2
 8 2 Girirajan S , et al. 2013 Edit
GEN517 DYDC2 DPY30 domain containing 2 10q23.1 Multigenic CNV
7 1 Girirajan S , et al. 2013 Edit
GEN888 DYNC1H1 dynein cytoplasmic 1 heavy chain 1 14q32.31 Rare single gene variant
4
 73 36 De Rubeis S , et al. 2014 Edit
GEN367 DYRK1A Dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A 21q22.13 Syndromic
5
 278 80 O'Roak BJ , et al. 2012 Edit
GEN989 EBF3 early B-cell factor 3 10q26.3 Rare single gene variant
4
 106 22 Tanaka AJ , et al. 2017 Edit
GEN1351 ECPAS Ecm29 proteasome adaptor and scaffold 9q31.3 Rare single gene variant
3
 6 4 Zhou X et al. 2022 Edit
GEN608 EEF1A2 Eukaryotic translation elongation factor 1 alpha 2 20q13.33 Syndromic
3
 68 23 Nakajima J , et al. 2014 Edit
GEN613 EFR3A EFR3 homolog A (S. cerevisiae) 8q24.22 Rare Single Gene variant
3
 24 9 Gupta AR , et al. 2014 Edit
GEN076 EGR2 early growth response 2 (Krox-20 homolog, Drosophila) 10q21.3 Functional
0
 1 5 Hu VW , et al. 2006 Edit
GEN1123 EGR3 early growth response 3 8p21.3 Rare single gene variant
2
 5 3 De Rubeis S , et al. 2014 Edit
GEN344 EHMT1 Euchromatic histone-lysine N-methyltransferase 1 9q34.3 Syndromic
4
 68 42 Talkowski ME , et al. 2012 Edit
GEN808 EIF3G eukaryotic translation initiation factor 3 subunit G 19p13.2 Rare single gene variant
2
 7 5 Iossifov I , et al. 2012 Edit
GEN077 EIF4E eukaryotic translation initiation factor 4E 4q23 Rare single gene variant
2
 9 13 Neves-Pereira M , et al. 2009 Edit
GEN479 EIF4EBP2 Eukaryotic translation initiation factor 4E binding protein 2 10q22.1 Functional
0 1 Gkogkas CG , et al. 2012 Edit
GEN1171 EIF4G1 eukaryotic translation initiation factor 4 gamma 1 3q27.1 Rare single gene variant
2
 5 4 Gonatopoulos-Pournatzis T , et al. 2020 Edit
GEN1425 EIF5A eukaryotic translation initiation factor 5A 17p13.1 Rare single gene variant
2
 10 4 et al. Edit
GEN826 ELAVL2 ELAV like neuron-specific RNA binding protein 2 9p21.3 Rare single gene variant
2
 7 7 Iossifov I et al. 2014 Edit
GEN753 ELAVL3 ELAV like neuron-specific RNA binding protein 3 19p13.2 Rare single gene variant
2
 5 6 Iossifov I et al. 2014 Edit
GEN1038 ELOVL2 ELOVL fatty acid elongase 2 6p24.2 Genetic association
5 2 Sun C , et al. 2018 Edit
GEN1252 ELP2 elongator acetyltransferase complex subunit 2 18q12.2 Syndromic
Yes 17 6 Cohen JS et al. 2015 Edit
GEN733 ELP4 Elongator acetyltransferase complex subunit 4 11p13 Multigenic CNV
2
 19 7 Addis L , et al. 2015 Edit
GEN282 EML1 echinoderm microtubule associated protein like 1 14q32.2 Rare Single Gene variant
2
 9 4 Schaaf CP , et al. 2011 Edit
GEN669 EMSY EMSY, BRCA2 interacting transcriptional repressor 11q13.5 Rare single gene variant
3
 14 5 Gupta S , et al. 2014 Edit
GEN078 EN2 engrailed homolog 2 7q36.3 Genetic Association
2
 12 26 Gharani N , et al. 2004 Edit
GEN1183 ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 6q23.2 Rare single gene variant
3
 10 5 Tran KT et al. 2020 Edit
GEN308 EP300 E1A binding protein p300 22q13.2 Syndromic
4
 55 26 Vaags AK , et al. 2012 Edit
GEN353 EP400 E1A binding protein p400 12q24.33 Rare single gene variant
4
 Yes 71 10 Chahrour MH , et al. 2012 Edit
GEN365 EPC2 Enhancer of polycomb homolog 2 (Drosophila) 2q23.1 Rare single gene variant
2
 7 6 Jaillard S , et al. 2008 Edit
GEN1321 EPHA1 EPH receptor A1 7q34-q35 Rare single gene variant
3
 11 8 Iossifov I et al. 2014 Edit
GEN079 EPHA6 EPH receptor A6 3q11.2 Rare Single Gene variant
2
 9 9 Pinto D , et al. 2010 Edit
GEN1322 EPHB1 EPH receptor B1 3q22.2 Rare single gene variant
4
 32 10 Iossifov I et al. 2014 Edit
GEN410 EPHB2 EPH receptor B2 1p36.12 Rare single gene variant
3
 61 9 Sanders SJ , et al. 2012 Edit
GEN080 EPHB6 EPH receptor B6 7q34 Rare Single Gene variant
2
 3 7 O'Roak BJ , et al. 2011 Edit
GEN927 EPPK1 epiplakin 1 8q24.3 Rare single gene variant
3
 22 8 Lim ET , et al. 2017 Edit
GEN1270 EPS15L1 epidermal growth factor receptor pathway substrate 15 like 1 19p13.11 Rare single gene variant
2
 5 3 Wilfert AB et al. 2021 Edit
GEN574 EPS8 epidermal growth factor receptor pathway substrate 8 12p12.3 Functional
0 1 Menna E , et al. 2013 Edit
GEN081 ERBB4 v-erb-a erythroblastic leukemia viral oncogene homolog 4 (avian) 2q34 Rare Single Gene variant
2
 15 18 Pinto D , et al. 2010 Edit
GEN678 ERBIN erbb2 interacting protein 5q12.3 Rare single gene variant
3
 6 9 Li J , et al. 2015 Edit
GEN404 ERG ERG, ETS transcription factor 21q22.2 Genetic association
1 1 Anney R , et al. 2012 Edit
GEN838 ERMN ermin 2q24.1 Rare single gene variant
3
 8 1 Homs A , et al. 2016 Edit
GEN082 ESR1 estrogen receptor 1 6q25.1-q25.2 Syndromic
0
 5 11 Chakrabarti B , et al. 2009 Edit
GEN083 ESR2 estrogen receptor 2 (ER beta) 14q23.2-q23.3 Syndromic
0
 5 9 Chakrabarti B , et al. 2009 Edit
GEN084 ESRRB estrogen-related receptor beta 14q24.3 Genetic Association
0
 6 9 Wang K , et al. 2009 Edit
GEN658 ETFB Electron-transfer-flavoprotein, beta polypeptide 19q13.41 Rare single gene variant
2
 12 5 O'Roak BJ , et al. 2012 Edit
GEN679 EXOC3 exocyst complex component 3 5p15.33 Rare single gene variant
2
 7 3 Li J , et al. 2015 Edit
GEN680 EXOC5 exocyst complex component 5 14q22.3 Rare single gene variant
2
 2 2 Li J , et al. 2015 Edit
GEN681 EXOC6 exocyst complex component 6 10q23.33 Rare single gene variant
2
 8 3 Li J , et al. 2015 Edit
GEN525 EXOC6B exocyst complex component 6B 2p13.2 Rare single gene variant
2
 7 5 Frhmesser A , et al. 2013 Edit
GEN361 EXT1 Exostosin 1 8q24.11 Rare single gene variant
3
 8 7 Li H , et al. 2002 Edit
GEN085 F13A1 coagulation factor XIII, A1 polypeptide 6p25.1 Functional
2
 7 8 Hu VW , et al. 2006 Edit
GEN620 FABP3 Fatty acid binding protein 3, muscle and heart (mammary-derived growth inhibitor) 1p35.2 Functional/rare single gene variant
0
 1 2 Shimamoto C , et al. 2014 Edit
GEN1223 FABP4 fatty acid binding protein 4 8q21.13 Rare single gene variant
2
 4 3 Maekawa M et al. 2020 Edit
GEN086 FABP5 fatty acid binding protein 5 (psoriasis-associated) 8q21.13 Rare Single Gene variant, Genetic Association
2
 5 8 Maekawa M , et al. 2010 Edit
GEN087 FABP7 fatty acid binding protein 7, brain 6q22.31 Genetic Association
0
 10 7 Maekawa M , et al. 2010 Edit
GEN428 FAM135B family with sequence similarity 135 member B 8q24.23 Genetic association
2
 7 3 Connolly JJ , et al. 2012 Edit
GEN895 FAM47A family with sequence similarity 47 member A Xp21.1 Rare single gene variant
2
 4 1 C Yuen RK et al. 2017 Edit
GEN1099 FAM98C family with sequence similarity 98 member C 19q13.2 Rare single gene variant
2
 5 4 De Rubeis S , et al. 2014 Edit
GEN589 FAN1 FANCD2/FANCI-associated nuclease 1 15q13.3 Rare single gene variant
2
 7 5 Ionita-Laza I , et al. 2013 Edit
GEN338 FAT1 FAT atypical cadherin 1 4q35.2 Rare Single Gene variant
3
 25 13 Neale BM , et al. 2012 Edit
GEN754 FBN1 Fibrillin 1 15q21.1 Rare single gene variant
3
 25 15 Iossifov I , et al. 2012 Edit
GEN1177 FBRSL1 fibrosin like 1 12q24.33 Syndromic
2
 5 3 Ufartes R et al. 2020 Edit
GEN1410 FBXL13 F-box and leucine rich repeat protein 13 7q22.1 Rare single gene variant
2
 6 2 Cirnigliaro M et al. 2023 Edit
GEN1027 FBXO11 F-box protein 11 2p16.3 Rare single gene variant
4
 80 12 Krumm N , et al. 2015 Edit
GEN315 FBXO15 F-box protein 15 18q22.3 Rare Single Gene variant
2
 6 5 Christian SL , et al. 2008 Edit
GEN088 FBXO33 F-box protein 33 14q21.1 Genetic Association
0
 3 4 Wang K , et al. 2009 Edit
GEN089 FBXO40 F-box protein 40 3q13.33 Genetic Association
2
 5 6 Glessner JT , et al. 2009 Edit
GEN946 FCRL6 Fc receptor like 6 1q23.2 Rare single gene variant
2
 29 4 Sanders SJ , et al. 2012 Edit
GEN429 FER FERtyrosine kinase 5q21.3 Genetic association
0
 3 2 Connolly JJ , et al. 2012 Edit
GEN090 FEZF2 FEZ family zinc finger 2 3p14.2 Genetic Association
3
 10 10 Wang K , et al. 2009 Edit
GEN585 FGA Fibrinogen alpha chain 4q31.3 Genetic association
0
 7 5 Ro M , et al. 2013 Edit
GEN287 FGD1 FYVE, RhoGEF and PH domain containing 1 Xp11.22 Rare Single Gene variant
2
 7 6 Orrico A , et al. 2005 Edit
GEN1237 FGF13 fibroblast growth factor 13 Xq26.3 Syndromic
2
 6 2 Fry AE et al. 2021 Edit
GEN1199 FGF14 fibroblast growth factor 14 13q33.1 Rare single gene variant
0
 8 2 Trost B et al. 2020 Edit
GEN299 FGFBP3 fibroblast growth factor binding protein 3 10q23.32 Rare Single Gene variant
1 1 Salyakina D , et al. 2011 Edit
GEN1205 FGFR1 fibroblast growth factor receptor 1 8p11.23 Rare single gene variant
2
 5 4 Matoba N et al. 2020 Edit
GEN1030 FGFR2 fibroblast growth factor receptor 2 10q26.13 Functional
3
 9 8 Szczurkowska J , et al. 2018 Edit
GEN091 FHIT fragile histidine triad gene 3p14.2 Genetic Association
0
 19 12 Sebat J , et al. 2007 Edit
GEN1402 FLNA filamin A Xq28 Multigenic CNV/Functional
2
 10 11 Miyake N et al. 2023 Edit
GEN1271 FLNC filamin C 7q32.1 Rare single gene variant
3
 8 3 Wilfert AB et al. 2021 Edit
GEN092 FLT1 fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular perme ability factor receptor) 13q12.3 Functional
2
 5 6 Hu VW , et al. 2006 Edit
GEN093 FMR1 fragile X mental retardation 1 Xq27.3 Functional
3
 50 67 Rogers SJ , et al. 2002 Edit
GEN413 FOLH1 folate hydrolase 1 11p11.12 Functional
0 2 Han L , et al. 2009 Edit
GEN094 FOXG1 Forkhead box G1 14q12 Syndromic
4
 88 57 Kortm F , et al. 2011 Edit
GEN095 FOXP1 forkhead box P1 3p13 Rare Single Gene variant
5
 191 72 O'Roak BJ , et al. 2011 Edit
GEN096 FOXP2 forkhead box P2 7q31.1 Rare single gene variant
3
 95 56 Gong X , et al. 2004 Edit
GEN1234 FRG1 FSHD region gene 1 4q35.2 Rare single gene variant
2
 3 2 Alonso-Gonzalez A et al. 2021 Edit
GEN097 FRK fyn-related kinase 6q22.1 Genetic Association
2
 3 3 Wang K , et al. 2009 Edit
GEN1434 FRMD5 FERM domain containing 5 15q15.3 Rare single gene variant
2
 12 5 et al. Edit
GEN098 FRMPD4 FERM and PDZ domain containing 4 Xp22.2 Rare Single Gene variant
2
 10 9 Piton A , et al. 2010 Edit
GEN1440 FRYL FRY like transcription coactivator 4p11 Rare single gene variant
4
 27 8 et al. Edit
GEN1198 FXN frataxin 9q21.11 Rare single gene variant
2
 9 2 Trost B et al. 2020 Edit
GEN1361 G3BP2 G3BP stress granule assembly factor 2 4q21.1 Rare single gene variant
3
 8 6 Iossifov I et al. 2014 Edit
GEN1272 GAB2 GRB2 associated binding protein 2 11q14.1 Rare single gene variant
2
 5 2 Wilfert AB et al. 2021 Edit
GEN1264 GABBR1 gamma-aminobutyric acid type B receptor subunit 1 6p22.1 Functional
3
 8 10 Satterstrom FK et al. 2020 Edit
GEN1010 GABBR2 gamma-aminobutyric acid type B receptor subunit 2 9q22.33 Functional
4
 20 15 EuroEPINOMICS-RES Consortium , et al. 2014 Edit
GEN624 GABRA1 Gamma-aminobutyric acid (GABA) A receptor, alpha 1 5q34 Functional
3
 13 13 Fatemi SH , et al. 2008 Edit
GEN481 GABRA3 Gamma-aminobutyric acid (GABA) A receptor, alpha 3 Xq28 Rare Single Gene variant
0
 9 3 Piton A , et al. 2012 Edit
GEN099 GABRA4 gamma-aminobutyric acid (GABA) A receptor, alpha 4 4p12 Genetic Association
2
 11 9 Ma DQ , et al. 2005 Edit
GEN827 GABRA5 gamma-aminobutyric acid type A receptor alpha5 subunit 15q12 Genetic association
2
 6 11 Fatemi SH , et al. 2010 Edit
GEN100 GABRB1 gamma-aminobutyric acid (GABA) A receptor, beta 1 4p12 Genetic Association
2
 9 9 Ma DQ , et al. 2005 Edit
GEN1166 GABRB2 gamma-aminobutyric acid type A receptor subunit beta2 5q34 Rare single gene variant
2
 7 6 Iossifov I et al. 2014 Edit
GEN101 GABRB3 gamma-aminobutyric acid (GABA) A receptor, beta 3 15q12 Genetic Association
4
 Yes 148 52 Cook EH Jr , et al. 1998 Edit
GEN1401 GABRG2 gamma-aminobutyric acid type A receptor subunit gamma 2 5q34 Genetic association
3
 25 11 Miyake N et al. 2023 Edit
GEN1032 GABRG3 gamma-aminobutyric acid type A receptor gamma3 subunit 15q12 Genetic association
3
 21 13 Menold MM , et al. 2002 Edit
GEN480 GABRQ Gamma-aminobutyric acid (GABA) A receptor, theta Xq28 Rare Single Gene variant
2
 4 4 Piton A , et al. 2012 Edit
GEN606 GAD1 Glutamate decarboxylase 1 (brain, 67kDa) 2q31.1 Functional
2
 4 7 Yip J , et al. 2007 Edit
GEN742 GADD45B Growth arrest and DNA-damage-inducible, beta 19p13.3 Functional
2
 2 5 Garbett K , et al. 2008 Edit
GEN1194 GALNT10 polypeptide N-acetylgalactosaminyltransferase 10 5q33.2 Genetic association
2
 9 7 Wu Y et al. 2020 Edit
GEN102 GALNT13 polypeptide N-acetylgalactosaminyltransferase 13 2q23.3-q24.1 Rare Single Gene variant
2
 7 5 Bucan M , et al. 2009 Edit
GEN396 GALNT14 polypeptide N-acetylgalactosaminyltransferase 14 2p23.1 Genetic association
2
 11 7 Anney R , et al. 2012 Edit
GEN1174 GALNT2 polypeptide N-acetylgalactosaminyltransferase 2 1q42.13 Syndromic
2
 10 6 Zilmer M et al. 2020 Edit
GEN1042 GALNT8 polypeptide N-acetylgalactosaminyltransferase 8 12p13.32 Rare single gene variant
2
 10 3 Kushima I , et al. 2018 Edit
GEN383 GAN Gigaxonin 16q23.2 Rare single gene variant
2
 3 3 Van der Aa N , et al. 2012 Edit
GEN414 GAP43 Growth associated protein 43 3q13.31 Functional
2
 1 2 Zaccaria KJ , et al. 2010 Edit
GEN373 GAS2 Growth arrest-specific 2 11p14.3 Genetic association
2 1 Weiss LA , et al. 2009 Edit
GEN617 GATM Glycine amidinotransferase (L-arginine:glycine amidinotransferase) 15q21.1 Syndromic
27 2 Mercimek-Mahmutoglu S , et al. 2006 Edit
GEN1288 GBE1 1,4-alpha-glucan branching enzyme 1 3p12.2 Rare single gene variant
2
 11 5 Fanjul-Fernández M et al. 2021 Edit
GEN682 GDA guanine deaminase 9q21.13 Rare single gene variant
0
 3 3 Li J , et al. 2015 Edit
GEN1158 GFAP glial fibrillary acidic protein 17q21.31 Rare single gene variant
2
 3 1 Satterstrom FK et al. 2020 Edit
GEN997 GGNBP2 gametogenetin binding protein 2 17q12 Rare single gene variant
3
 4 3 De Rubeis S , et al. 2014 Edit
GEN646 GIGYF1 GRB10 interacting GYF protein 1 7q22.1 Rare single gene variant
4
 98 20 Iossifov I et al. 2014 Edit
GEN721 GIGYF2 GRB10 interacting GYF protein 2 2q37.1 Rare single gene variant
3
 26 9 De Rubeis S , et al. 2014 Edit
GEN1273 GLG1 golgi glycoprotein 1 16q23.1 Rare single gene variant
2
 5 2 Wilfert AB et al. 2021 Edit
GEN781 GLIS1 GLIS family zinc finger 1 1p32.3 Genetic association
0
 4 3 Kuo PH , et al. 2015 Edit
GEN103 GLO1 glyoxalase I 6p21.2 Genetic Association
2
 7 10 Junaid MA , et al. 2004 Edit
GEN104 GLRA2 glycine receptor, alpha 2 Xp22.2 Rare Single Gene variant
3
 21 17 Piton A , et al. 2010 Edit
GEN347 GNA14 Guanine nucleotide binding protein (G protein), alpha 14 9q21.2 Rare Single Gene variant
0
 2 2 Talkowski ME , et al. 2012 Edit
GEN1154 GNAI1 G protein subunit alpha i1 7q21.11 Rare single gene variant
3
 31 6 De Rubeis S , et al. 2014 Edit
GEN105 GNAS GNAS complex locus 20q13.32 Rare Single Gene variant, Genetic Association
2
 14 9 Kim SJ , et al. 2000 Edit
GEN304 GNB1L guanine nucleotide binding protein (G protein), beta polypeptide 1-like 22q11.21 Rare Single Gene variant
2
 8 3 Chen YZ , et al. 2011 Edit
GEN1286 GNB2 G protein subunit beta 2 7q22.1 Rare single gene variant
2
 18 6 Tan NB et al. 2021 Edit
GEN038 GOLM2 golgi membrane protein 2 15q15.3 Rare Single Gene variant
2
 7 4 Pinto D , et al. 2010 Edit
GEN849 GPC4 glypican 4 Xq26.2 Rare single gene variant
Yes 2 2 Doan RN , et al. 2016 Edit
GEN1323 GPC5 glypican 5 13q31.3 Rare single gene variant
4
 31 9 Iossifov I et al. 2014 Edit
GEN106 GPC6 glypican 6 13q31.3-q32.1 Rare Single Gene variant
14 8 Pinto D , et al. 2010 Edit
GEN535 GPD2 glycerol-3-phosphate dehydrogenase 2 2q24.1 Rare single gene variant
2
 Yes 6 5 Barge-Schaapveld DQ , et al. 2013 Edit
GEN505 GPHN Gephyrin 14q23.3 Rare single gene variant
2
 18 10 Prasad A , et al. 2013 Edit
GEN107 GPR139 G protein-coupled receptor 139 16p12.3 Rare Single Gene variant
2
 2 6 O'Roak BJ , et al. 2011 Edit
GEN489 GPR37 G protein-coupled receptor 37 7q31.33 Rare single gene variant
3
 12 3 Fujita-Jimbo E , et al. 2012 Edit
GEN709 GPR85 G protein-coupled receptor 85 7q31.1 Genetic association, functional
2
 5 5 Fujita-Jimbo E , et al. 2015 Edit
GEN1083 GPRASP2 G protein-coupled receptor associated sorting protein 2 Xq22.1 Rare single gene variant
0
 2 3 Edfawy M , et al. 2019 Edit
GEN108 GPX1 glutathione peroxidase 1 3p21.31 Genetic Association
2
 2 6 Ming X , et al. 2009 Edit
GEN1344 GRB10 growth factor receptor bound protein 10 7p12.1 Functional
3
 24 12 Kim IB et al. 2022 Edit
GEN915 GRIA1 glutamate ionotropic receptor AMPA type subunit 1 5q33.2 Rare single gene variant
4
 21 12 De Rubeis S , et al. 2014 Edit
GEN1093 GRIA2 glutamate ionotropic receptor AMPA type subunit 2 4q32.1 Rare single gene variant
4
 43 12 De Rubeis S , et al. 2014 Edit
GEN1295 GRIA3 glutamate ionotropic receptor AMPA type subunit 3 Xq25 Syndromic
3
 45 16 Wu Y et al. 2007 Edit
GEN415 GRID1 Glutamate receptor, ionotropic, delta 1 10q23.1-q23.2 Genetic association
2
 7 7 Glessner JT , et al. 2009 Edit
GEN283 GRID2 glutamate receptor, ionotropic, delta 2 4q22.1-q22.2 Rare Single Gene variant
2
 25 11 Schaaf CP , et al. 2011 Edit
GEN683 GRID2IP Grid2 interacting protein 7p22.1 Rare single gene variant
2
 7 5 Li J , et al. 2015 Edit
GEN109 GRIK2 glutamate ionotropic receptor kainate type subunit 2 6q16.3 Genetic Association
3
 38 22 Jamain S , et al. 2002 Edit
GEN684 GRIK3 glutamate ionotropic receptor kainate type subunit 3 1p34.3 Genetic association
2
 5 7 Li J , et al. 2015 Edit
GEN775 GRIK4 Glutamate receptor, ionotropic, kainate 4 11q23.3 Rare single gene variant
2
 9 7 Aller MI , et al. 2015 Edit
GEN722 GRIK5 Glutamate receptor, ionotropic, kainate 5 19q13.2 Rare single gene variant
3
 11 10 De Rubeis S , et al. 2014 Edit
GEN626 GRIN1 Glutamate receptor, ionotropic, N-methyl D-aspartate 1 9q34.3 Functional
3
 Yes 81 28 Gandal MJ , et al. 2012 Edit
GEN110 GRIN2A glutamate receptor, ionotropic, N-methyl D-aspartate 2A 16p13.2 Genetic Association
4
 215 63 Barnby G , et al. 2005 Edit
GEN111 GRIN2B glutamate receptor, inotropic, N-methyl D-apartate 2B 12p13.1 Genetic Association
5
 242 85 O'Roak BJ , et al. 2011 Edit
GEN112 GRIP1 glutamate receptor interacting protein 1 12q14.3 Rare Single Gene variant, Genetic Association
3
 14 14 Mejias R , et al. 2011 Edit
GEN1324 GRK4 G protein-coupled receptor kinase 4 4p16.3 Rare single gene variant
3
 5 6 Iossifov I et al. 2014 Edit
GEN593 GRM1 glutamate metabotropic receptor 1 6q24.3 Rare single gene variant
2
 9 9 Waltes R , et al. 2014 Edit
GEN559 GRM4 Glutamate receptor, metabotropic 4 6p21.31 Functional
0 1 Iscru E , et al. 2013 Edit
GEN355 GRM5 glutamate metabotropic receptor 5 11q14.2-q14.3 Rare single gene variant
3
 25 11 Iossifov I , et al. 2012 Edit
GEN716 GRM7 Glutamate receptor, metabotropic 7 3p26.1 Genetic association
2
 25 18 Yang Y and Pan C 2012 Edit
GEN113 GRM8 glutamate receptor, metabotropic 8 7q31.33 Genetic Association
2
 14 11 Serajee FJ , et al. 2003 Edit
GEN114 GRPR Gastrin-releasing peptide receptor Xp22.2 Genetic Association
2
 6 8 Ishikawa-Brush Y , et al. 1997 Edit
GEN416 GSK3B Glycogen synthase kinase 3 beta 3q13.33 Functional
3
 3 5 Mines MA , et al. 2010 Edit
GEN387 GSN gelsolin 9q33.2 Rare single gene variant
2
 5 3 Awadalla P , et al. 2010 Edit
GEN115 GSTM1 glutathione S-transferase M1 1p13.3 Genetic Association
1 3 Buyske S , et al. 2006 Edit
GEN116 GTF2I general transcription factor IIi 7q11.23 Rare Single Gene variant
2
 5 11 Malenfant P , et al. 2011 Edit
GEN400 GUCY1A2 guanylate cyclase 1 soluble subunit alpha 2 11q22.3 Genetic association
2
 3 3 Anney R , et al. 2012 Edit
GEN1292 H1-4 H1.4 linker histone, cluster member 6p22.2 Syndromic
3
 48 10 Duffney LJ et al. 2018 Edit
GEN993 H2AZ1 H2A.Z variant histone 1 4q23 Genetic association
2 5 Shen T , et al. 2018 Edit
GEN1112 H2BC11 H2B clustered histone 11 6p22.1 Rare single gene variant
2
 2 3 Iossifov I et al. 2014 Edit
GEN1306 H4C11 H4 clustered histone 11 6p22.1 Rare single gene variant
2
 4 4 C Yuen RK et al. 2017 Edit
GEN1304 H4C3 H4 clustered histone 3 6p22.2 Syndromic
3
 8 2 Tessadori F et al. 2022 Edit
GEN1305 H4C5 H4 clustered histone 5 6p22.2 Rare single gene variant
3
 22 6 Ruzzo EK , et al. 2019 Edit
GEN1301 HACE1 HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 6q16.3 Rare single gene variant
3
 17 12 Iossifov I et al. 2014 Edit
GEN430 HCFC1 host cell factor C1 Xq28 Syndromic
2
 23 12 Huang L , et al. 2012 Edit
GEN611 HCN1 Hyperpolarization activated cyclic nucleotide-gated potassium channel 1 5p12 Rare single gene variant
3
 53 14 Nava C , et al. 2014 Edit
GEN843 HDAC3 histone deacetylase 3 5q31.3 Rare single gene variant
2
 3 6 Nott A , et al. 2016 Edit
GEN117 HDAC4 histone deacetylase 4 2q37.3 Syndromic
3
 19 18 Williams SR , et al. 2010 Edit
GEN482 HDAC6 histone deacetylase 6 Xp11.23 Rare Single Gene variant
2
 2 7 Piton A , et al. 2012 Edit
GEN1024 HDAC8 histone deacetylase 8 Xq13.1 Syndromic
2
 7 12 Deardorff MA , et al. 2012 Edit
GEN1280 HDAC9 histone deacetylase 9 7p21.1 Rare single gene variant
3
 8 6 Wilfert AB et al. 2021 Edit
GEN881 HDC histidine decarboxylase 15q21.2 Functional
2
 3 9 Castellan Baldan L , et al. 2014 Edit
GEN1004 HDLBP high density lipoprotein binding protein 2q37.3 Multigenic CNV
3
 8 6 O'Roak BJ , et al. 2012 Edit
GEN900 HECTD4 HECT domain E3 ubiquitin protein ligase 4 12q24.13 Rare single gene variant
4
 27 10 De Rubeis S , et al. 2014 Edit
GEN737 HECW2 HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 2q32.3 Rare single gene variant
3
 51 19 Krumm N , et al. 2015 Edit
GEN118 HEPACAM hepatic and glial cell adhesion molecule 11q24.2 Syndromic
2
 33 11 Lpez-Hernndez T , et al. 2011 Edit
GEN1294 HERC1 HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 15q22.31 Rare single gene variant
4
 18 14 Hashimoto R , et al. 2015 Edit
GEN431 HERC2 HECT and RLD domain containing E3 ubiquitin protein ligase 2 15q13.1 Rare single gene variant
3
 Yes 19 10 Puffenberger EG , et al. 2012 Edit
GEN1135 HIVEP2 HIVEP zinc finger 2 6q24.2 Functional
3
 23 13 Steinfeld H , et al. 2016 Edit
GEN870 HIVEP3 human immunodeficiency virus type I enhancer binding protein 3 1p34.2 Rare single gene variant
3
 9 9 Iossifov I et al. 2014 Edit
GEN119 HLA-A major histocompatibility complex, class I, A 6p22.1 Genetic Association
7 10 Torres AR , et al. 2006 Edit
GEN795 HLA-B Major histocompatibility complex, class I, B 6p21.33 Genetic association
7 5 Al-Hakbany M , et al. 2014 Edit
GEN1086 HLA-DPB1 major histocompatibility complex, class II, DP beta 1 6p21.32 Genetic association
2
 3 2 Nudel R , et al. 2019 Edit
GEN120 HLA-DRB1 major histocompatibility complex, class II, DR beta 1 6p21.32 Genetic association
9 11 Warren RP , et al. 1996 Edit
GEN973 HLA-G major histocompatibility complex, class I, G 6p22.1 Genetic association
3 4 Guerini FR , et al. 2014 Edit
GEN303 HMGN1 high mobility group nucleosome binding domain 1 21q22.2 Genetic Association
11 1 Abuhatzira L , et al. 2011 Edit
GEN1245 HNRNPD heterogeneous nuclear ribonucleoprotein D 4q21.22 Rare single gene variant
4
 15 5 Iossifov I et al. 2014 Edit
GEN1246 HNRNPF heterogeneous nuclear ribonucleoprotein F 10q11.21 Rare single gene variant
2
 4 4 Iossifov I et al. 2014 Edit
GEN121 HNRNPH2 heterogeneous nuclear ribonucleoprotein H2 Xq22.1 Rare Single Gene variant
4
 70 20 Piton A , et al. 2010 Edit
GEN1247 HNRNPK heterogeneous nuclear ribonucleoprotein K 9q21.32 Syndromic
3
 32 11 Gillentine MA et al. 2021 Edit
GEN1248 HNRNPR heterogeneous nuclear ribonucleoprotein R 1p36.12 Rare single gene variant
3
 14 7 Duijkers FA et al. 2019 Edit
GEN926 HNRNPU heterogeneous nuclear ribonucleoprotein U 1q44 Rare single gene variant
4
 131 40 Lim ET , et al. 2017 Edit
GEN1249 HNRNPUL2 heterogeneous nuclear ribonucleoprotein U like 2 11q12.3 Rare single gene variant
3
 20 4 Gillentine MA et al. 2021 Edit
GEN356 HOMER1 Homer homolog 1 (Drosophila) 5q14.1 Rare single gene variant
3
 8 6 Kelleher RJ 3rd , et al. 2012 Edit
GEN122 HOXA1 homeobox A1 7p15.2 Genetic Association
3
 22 16 Ingram JL , et al. 2000 Edit
GEN123 HOXB1 homeobox B1 17q21.32 Genetic Association
0
 1 9 Ingram JL , et al. 2000 Edit
GEN124 HRAS v-Ha-ras Harvey rat sarcoma viral oncogene homolog 11p15.5 Rare Single Gene variant
2
 18 12 Hrault J , et al. 1993 Edit
GEN125 HS3ST5 heparan sulfate (glucosamine) 3-O-sulfotransferase 5 6q21-q22.1 Genetic Association
2
 5 8 Wang K , et al. 2009 Edit
GEN126 HSD11B1 hydroxysteroid (11-beta) dehydrogenase 1 1q32.2 Syndromic
0
 2 9 Chakrabarti B , et al. 2009 Edit
GEN127 HTR1B 5-hydroxytryptamine (serotonin) receptor 1B 6q14.1 Genetic Association
0
 2 6 Orabona GM , et al. 2008 Edit
GEN128 HTR2A 5-hydroxytryptamine (serotonin) receptor 2A 13q14.2 Genetic Association
2
 13 11 Veenstra-VanderWeele J , et al. 2002 Edit
GEN129 HTR3A 5-hydroxytryptamine (serotonin) receptor 3A 11q23.2 Functional
2
 9 9 Anderson BM , et al. 2009 Edit
GEN130 HTR3C 5-hydroxytryptamine (serotonin) receptor 3, family member C 3q27.1 Genetic Association
2
 10 8 Rehnstrm K , et al. 2008 Edit
GEN131 HTR7 5-hydroxytryptamine (serotonin) receptor 7 (adenylate cyclase-coupled) 10q23.31 Genetic Association
2
 6 5 Lassig JP , et al. 1999 Edit
GEN432 HUWE1 HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase Xp11.22 Syndromic
4
 53 27 Nava C , et al. 2012 Edit
GEN514 HYDIN HYDIN, axonemal central pair apparatus protein 16q22.2 Multigenic CNV
2
 12 5 Girirajan S , et al. 2013 Edit
GEN296 ICA1 islet cell autoantigen 1 7p21.3 Rare single gene variant
2
 15 10 Salyakina D , et al. 2011 Edit
GEN840 IFNG interferon gamma 12q15 Functional
0 13 Singh VK 1996 Edit
GEN841 IFNGR1 interferon gamma receptor 1 6q23.3 Functional
0 1 Filiano AJ , et al. 2016 Edit
GEN1182 IGF1 insulin like growth factor 1 12q23.2 Functional
3
 20 8 Tran KT et al. 2020 Edit
GEN1345 IKZF1 IKAROS family zinc finger 1 7p12.2 Rare single gene variant
3
 9 6 De Rubeis S , et al. 2014 Edit
GEN685 IL16 interleukin 16 15q25.1 Rare single gene variant
2
 6 3 Li J , et al. 2015 Edit
GEN794 IL17A Interleukin 17A 6p12.2 Functional
2
 2 3 Choi GB , et al. 2016 Edit
GEN974 IL17RA interleukin 17 receptor A 22q11.1 Rare single gene variant
2
 5 6 Choi GB , et al. 2016 Edit
GEN132 IL1R2 interleukin 1 receptor, type II 2q11.2 Rare Single Gene variant
2
 5 8 O'Roak BJ , et al. 2011 Edit
GEN133 IL1RAPL1 interleukin 1 receptor accessory protein-like 1 Xp21.3-p21.2 Rare single gene variant
3
 33 27 Bhat SS , et al. 2007 Edit
GEN302 IL1RAPL2 interleukin 1 receptor accessory protein-like 2 Xq22.3 Genetic Association
4 2 Chung RH , et al. 2011 Edit
GEN804 IL6 interleukin 6 7p15.3 Functional
0 6 Smith SE , et al. 2007 Edit
GEN759 ILF2 Interleukin enhancer binding factor 2 1q21.3 Rare single gene variant
3
 6 6 Sanders SJ , et al. 2015 Edit
GEN134 IMMP2L IMP2 inner mitochondrial membrane peptidase-like (S. cerevisiae) 7q31.1 Rare single gene variant
2
 31 17 Petek E , et al. 2001 Edit
GEN135 INPP1 inositol polyphosphate-1-phosphatase 2q32.2 Genetic Association
2
 4 5 Serajee FJ , et al. 2003 Edit
GEN1056 INTS1 integrator complex subunit 1 7p22.3 Syndromic
3
 Yes 28 10 Krall M , et al. 2019 Edit
GEN755 INTS6 Integrator complex subunit 6 13q14.3 Rare single gene variant
3
 4 6 Iossifov I et al. 2014 Edit
GEN874 IQGAP3 IQ motif containing GTPase activating protein 3 1q22 Rare single gene variant
3
 12 6 Stessman HA , et al. 2017 Edit
GEN542 IQSEC2 IQ motif and Sec7 domain 2 Xp11.22 Syndromic
5
 158 51 Shoubridge C , et al. 2010 Edit
GEN763 IRF2BPL Interferon regulatory factor 2 binding protein-like 14q24.3 Rare single gene variant
4
 37 16 Sanders SJ , et al. 2015 Edit
GEN136 ITGA4 integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor) 2q31.3 Genetic Association
2
 11 7 Ramoz N , et al. 2008 Edit
GEN1325 ITGA8 integrin subunit alpha 8 10p13 Rare single gene variant
3
 15 7 Iossifov I et al. 2014 Edit
GEN137 ITGB3 integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61) 17q21.32 Genetic association
2
 16 22 Weiss LA , et al. 2006 Edit
GEN138 ITGB7 integrin, beta 7 12q13.13 Functional
2
 4 5 Hu VW , et al. 2006 Edit
GEN880 ITPR1 inositol 1,4,5-trisphosphate receptor type 1 3p26.1 Rare single gene variant
3
 26 17 De Rubeis S , et al. 2014 Edit
GEN1119 ITSN1 intersectin 1 21q22.11 Rare single gene variant
4
 45 10 De Rubeis S , et al. 2014 Edit
GEN790 JAKMIP1 Janus kinase and microtubule interacting protein 1 4p16.1 Functional
2
 9 10 Berg JM , et al. 2015 Edit
GEN374 JARID2 jumonji and AT-rich interaction domain containing 2 6p22.3 Genetic association
3
 38 18 Weiss LA , et al. 2009 Edit
GEN139 JMJD1C jumonji domain containing 1C 10q21.3 Rare single gene variant
3
 22 10 Castermans D , et al. 2007 Edit
GEN1274 JMY junction mediating and regulatory protein, p53 cofactor 5q14.1 Rare single gene variant
2
 5 2 Wilfert AB et al. 2021 Edit
GEN530 KANK1 KN motif and ankyrin repeat domains 1 9p24.3 Rare single gene variant
2
 19 12 Vanzo RJ , et al. 2013 Edit
GEN1136 KANSL1 KAT8 regulatory NSL complex subunit 1 17q21.31 Rare single gene variant
3
 32 13 Koolen DA , et al. 2015 Edit
GEN764 KAT2B K(lysine) acetyltransferase 2B 3p24.3 Rare single gene variant
3
 8 8 Sanders SJ , et al. 2015 Edit
GEN747 KAT6A K(lysine) acetyltransferase 6A 8p11.21 Rare single gene variant
4
 165 32 Iossifov I et al. 2014 Edit
GEN1231 KAT6B lysine acetyltransferase 6B 10q22.2 Rare single gene variant
3
 66 8 Wang T et al. 2020 Edit
GEN904 KATNAL1 katanin catalytic subunit A1 like 1 13q12.3 Rare single gene variant
2
 3 4 C Yuen RK et al. 2017 Edit
GEN369 KATNAL2 Katanin p60 subunit A-like 2 18q21.1 Rare Single Gene variant
3
 55 15 Sanders SJ , et al. 2012 Edit
GEN1290 KCNA2 potassium voltage-gated channel subfamily A member 2 1p13.3 Rare single gene variant
3
 23 11 Qaiser F et al. 2021 Edit
GEN1420 KCNA3 potassium voltage-gated channel subfamily A member 3 1p13.3 Rare single gene variant
3
 15 2 et al. Edit
GEN938 KCNB1 potassium voltage-gated channel subfamily B member 1 20q13.13 Rare single gene variant
4
 119 28 de Kovel CGF , et al. 2017 Edit
GEN1074 KCNC1 potassium voltage-gated channel subfamily C member 1 11p15.1 Rare single gene variant
2
 8 10 Iossifov I et al. 2014 Edit
GEN1314 KCNC2 potassium voltage-gated channel subfamily C member 2 12q21.1 Rare single gene variant
3
 42 13 Satterstrom FK et al. 2020 Edit
GEN433 KCND2 potassium voltage-gated channel subfamily D member 2 7q31.31 Rare single gene variant
3
 19 9 Connolly JJ , et al. 2012 Edit
GEN999 KCND3 potassium voltage-gated channel subfamily D member 3 1p13.2 Genetic association
2
 6 13 Iossifov I et al. 2014 Edit
GEN1392 KCNH5 potassium voltage-gated channel subfamily H member 5 14q23.2 Rare single gene variant
2
 4 5 Veeramah KR , et al. 2013 Edit
GEN140 KCNJ10 potassium voltage-gated channel subfamily J member 10 1q23.2 Genetic Association
3
 17 13 Sicca F , et al. 2011 Edit
GEN686 KCNJ12 potassium voltage-gated channel subfamily J member 12 17p11.2 Rare single gene variant
0
 4 2 Li J , et al. 2015 Edit
GEN687 KCNJ15 potassium voltage-gated channel subfamily J member 15 21q22.13-q22.2 Rare single gene variant
2
 3 3 Li J , et al. 2015 Edit
GEN614 KCNJ2 Potassium inwardly-rectifying channel, subfamily J, member 2 17q24.3 Rare Single Gene variant
3
 4 4 Ambrosini E , et al. 2014 Edit
GEN967 KCNK7 potassium two pore domain channel subfamily K member 7 11q13.1 Rare single gene variant
2
 6 3 Li J , et al. 2017 Edit
GEN141 KCNMA1 potassium large conductance calcium-activated channel, subfamily M, alpha member 1 10q22.3 Rare single gene variant
4
 39 31 Laumonnier F , et al. 2006 Edit
GEN553 KCNQ2 potassium voltage-gated channel subfamily Q member 2 20q13.33 Genetic association
4
 129 57 Jiang YH , et al. 2013 Edit
GEN536 KCNQ3 potassium voltage-gated channel subfamily Q member 3 8q24.22 Genetic association
4
 54 21 Gilling M , et al. 2013 Edit
GEN1058 KCNS3 potassium voltage-gated channel modifier subfamily S member 3 2p24.2 Rare single gene variant
2
 5 6 De Rubeis S , et al. 2014 Edit
GEN434 KCNT1 potassium sodium-activated channel subfamily T member 1 9q34.3 Rare single gene variant
2
 44 23 Heron SE , et al. 2012 Edit
GEN363 KCTD13 Potassium channel tetramerisation domain containing 13 16p11.2 Rare single gene variant
0
 4 9 Golzio C , et al. 2012 Edit
GEN1124 KDM1B lysine demethylase 1B 6p22.3 Rare single gene variant
2
 4 3 De Rubeis S , et al. 2014 Edit
GEN1326 KDM2A lysine demethylase 2A 11q13.2 Rare single gene variant
4
 25 9 Iossifov I et al. 2014 Edit
GEN1364 KDM2B lysine demethylase 2B 12q24.31 Syndromic
3
 28 10 Iossifov I et al. 2014 Edit
GEN1386 KDM3A lysine demethylase 3A 2p11.2 Rare single gene variant
3
 18 4 De Rubeis S , et al. 2014 Edit
GEN1137 KDM3B lysine demethylase 3B 5q31.2 Syndromic
3
 22 5 Diets IJ , et al. 2019 Edit
GEN819 KDM4B lysine demethylase 4B 19p13.3 Rare single gene variant
3
 25 6 De Rubeis S , et al. 2014 Edit
GEN1043 KDM4C lysine demethylase 4C 9p24.1 Rare single gene variant
2
 14 4 Kushima I , et al. 2018 Edit
GEN1232 KDM5A lysine demethylase 5A 12p13.33 Rare single gene variant/Functional
2
 Yes 10 5 El Hayek L et al. 2020 Edit
GEN647 KDM5B Lysine (K)-specific demethylase 5B 1q32.1 Rare single gene variant
4
 80 24 Iossifov I et al. 2014 Edit
GEN435 KDM5C lysine demethylase 5C Xp11.22 Syndromic
3
 59 41 Adegbola A , et al. 2008 Edit
GEN896 KDM6A lysine demethylase 6A Xp11.3 Syndromic
3
 18 14 C Yuen RK et al. 2017 Edit
GEN648 KDM6B Lysine (K)-specific demethylase 6B 17p13.1 Rare single gene variant
5
 132 22 Iossifov I , et al. 2012 Edit
GEN294 KHDRBS2 KH domain containing, RNA binding, signal transduction associated 2 6q11.1 Rare Single Gene variant
2
 6 4 Salyakina D , et al. 2011 Edit
GEN834 KHDRBS3 KH RNA binding domain containing, signal transduction associated 3 8q24.23 Functional
0 2 Traunmller L , et al. 2014 Edit
GEN1156 KIAA0232 KIAA0232 4p16.1 Rare single gene variant
3
 5 4 Iossifov I et al. 2014 Edit
GEN142 KIAA1586 KIAA1586 6p12.1 Rare Single Gene variant
2
 20 6 Bucan M , et al. 2009 Edit
GEN688 KIF13B Kinesin family member 13B 8p12 Rare single gene variant
2
 9 4 Li J , et al. 2015 Edit
GEN1044 KIF14 kinesin family member 14 1q32.1 Rare single gene variant
2
 10 7 Krumm N , et al. 2015 Edit
GEN1243 KIF1A kinesin family member 1A 2q37.3 Rare single gene variant
3
 20 14 Tomaselli PJ et al. 2017 Edit
GEN1018 KIF21B kinesin family member 21B 1q32.1 Functional
2
 6 7 Gromova KV , et al. 2018 Edit
GEN389 KIF5C Kinesin family member 5C 2q23.1-q23.2 Rare single gene variant
3
 36 14 Awadalla P , et al. 2010 Edit
GEN789 KIRREL3 Kin of IRRE like 3 (Drosophila) 11q24.2 Rare single gene variant
3
 33 19 Talkowski ME , et al. 2012 Edit
GEN522 KIT KIT proto-oncogene receptor tyrosine kinase 4q12 Syndromic
0
 2 2 Kilsby AJ , et al. 2013 Edit
GEN1240 KIZ kizuna centrosomal protein 20p11.23 Genetic association
1 2 Grove J , et al. 2019 Edit
GEN388 KLC2 Kinesin light chain 2 11q13.2 Rare single gene variant
2
 4 3 Awadalla P , et al. 2010 Edit
GEN920 KLF16 Kruppel like factor 16 19p13.3 Rare single gene variant
2
 2 1 Lim ET , et al. 2017 Edit
GEN1311 KLF7 Kruppel like factor 7 2q33.3 Multigenic CNV
3
 18 14 Powis Z et al. 2018 Edit
GEN1363 KLHL20 kelch like family member 20 1q25.1 Functional
2
 15 4 Satterstrom FK et al. 2020 Edit
GEN571 KMO kynurenine 3-monooxygenase 1q43 Functional
2
 2 3 McFarlane HG , et al. 2007 Edit
GEN700 KMT2A Lysine (K)-specific methyltransferase 2A 11q23.3 Syndromic
5
 215 50 De Rubeis S , et al. 2014 Edit
GEN659 KMT2C Lysine (K)-specific methyltransferase 2C 7q36.1 Rare single gene variant
5
 95 36 O'Roak BJ , et al. 2012 Edit
GEN636 KMT2E Lysine (K)-specific methyltransferase 2E 7q22.3 Rare single gene variant
4
 94 20 Dong S , et al. 2014 Edit
GEN336 KMT5B lysine methyltransferase 5B 11q13.2 Rare Single Gene variant
5
 98 27 Sanders SJ , et al. 2012 Edit
GEN1210 KNG1 kininogen 1 3q27.3 Rare single gene variant
2
 2 2 Luo Y et al. 2020 Edit
GEN586 KPTN kaptin, actin binding protein 19q13.32 Syndromic
2
 18 9 Baple EL , et al. 2013 Edit
GEN779 KRR1 KRR1, small subunit (SSU) processome component, homolog (yeast) 12q21.2 Genetic association
2
 5 3 Kuo PH , et al. 2015 Edit
GEN956 KRT26 keratin 26 17q21.2 Rare single gene variant
3
 40 4 Krumm N , et al. 2015 Edit
GEN403 LAMA1 Laminin, alpha 1 18p11.31 Genetic association
3
 19 12 Anney R , et al. 2012 Edit
GEN143 LAMB1 laminin, beta 1 7q31.1 Genetic Association
3
 21 11 Hutcheson HB , et al. 2004 Edit
GEN144 LAMC3 laminin, gamma 3 9q34.12 Rare Single Gene variant
3
 28 12 O'Roak BJ , et al. 2011 Edit
GEN1185 LAS1L LAS1 like ribosome biogenesis factor Xq12 Syndromic
0
 4 5 Tran KT et al. 2020 Edit
GEN979 LAT linker for activation of T-cells 16p11.2 Functional
0 2 Loviglio MN , et al. 2017 Edit
GEN1155 LDB1 LIM domain binding 1 10q24.32 Rare single gene variant
3
 6 4 De Rubeis S , et al. 2014 Edit
GEN1208 LDLR low density lipoprotein receptor 19p13.2 Rare single gene variant
2
 8 3 Luo Y et al. 2020 Edit
GEN1352 LEMD3 LEM domain containing 3 12q14.3 Rare single gene variant
2
 3 3 Zhou X et al. 2022 Edit
GEN1013 LEO1 LEO1 homolog, Paf1/RNA polymerase II complex component 15q21.2 Rare single gene variant
3
 23 4 De Rubeis S , et al. 2014 Edit
GEN496 LEP Leptin 7q32.1 Rare single gene variant
2 1 Prasad A , et al. 2013 Edit
GEN1399 LHX2 LIM homeobox 2 9q33.3 Rare single gene variant
3
 19 4 Schmid CM et al. 2023 Edit
GEN968 LILRB2 leukocyte immunoglobulin like receptor B2 19q13.42 Rare single gene variant
2
 8 3 Krumm N , et al. 2015 Edit
GEN632 LIN7B lin-7 homolog B, crumbs cell polarity complex component 19q13.33 Multigenic CNV/rare single gene variant
2
 3 3 Mizuno M , et al. 2014 Edit
GEN1357 LMTK3 lemur tyrosine kinase 3 19q13.33 Functional
3
 8 6 Zhou X et al. 2022 Edit
GEN272 LMX1B LIM homeobox transcription factor 1 beta 9q33.3 Genetic association/Functional
2 1 Thanseem I , et al. 2011 Edit
GEN1026 LNPK lunapark, ER junction formation factor 2q31.1 Syndromic
15 4 Breuss MW , et al. 2018 Edit
GEN689 LPL lipoprotein lipase 8p21.3 Rare single gene variant
2
 7 3 Li J , et al. 2015 Edit
GEN802 LRBA LPS-responsive vesicle trafficking, beach and anchor containing 4q31.3 Rare single gene variant
3
 21 9 Gai X , et al. 2011 Edit
GEN911 LRFN2 leucine rich repeat and fibronectin type III domain containing 2 6p21.2-p21.1 Rare single gene variant
3
 18 6 Morimura N , et al. 2017 Edit
GEN145 LRFN5 leucine rich repeat and fibronectin type III domain containing 5 14q21.1 Genetic Association
2
 7 7 Wang K , et al. 2009 Edit
GEN1088 LRP1 LDL receptor related protein 1 12q13.3 Rare single gene variant
4
 45 10 De Rubeis S , et al. 2014 Edit
GEN1275 LRP12 LDL receptor related protein 12 8q22.3 Rare single gene variant
2
 4 2 Wilfert AB et al. 2021 Edit
GEN362 LRP2 LDL receptor related protein 2 2q31.1 Rare single gene variant
4
 69 20 Ionita-Laza I , et al. 2012 Edit
GEN690 LRP2BP LRP2 binding protein 4q35.1 Rare single gene variant
2
 2 2 Li J , et al. 2015 Edit
GEN436 LRPPRC leucine rich pentatricopeptide repeat containing 2p21 Functional
2
 6 6 Anitha A , et al. 2012 Edit
GEN146 LRRC1 leucine rich repeat containing 1 6p12.1 Genetic Association
2
 6 7 Wang K , et al. 2009 Edit
GEN1020 LRRC4 leucine rich repeat containing 4 7q32.1 Rare single gene variant
3
 6 5 Jiang YH , et al. 2013 Edit
GEN1163 LRRC4C leucine rich repeat containing 4C 11p12 Rare single gene variant
2
 4 2 Satterstrom FK et al. 2020 Edit
GEN417 LRRC7 Leucine rich repeat containing 7 1p31.1 Functional
2
 4 5 Carlisle HJ , et al. 2011 Edit
GEN730 LZTR1 Leucine-zipper-like transcription regulator 1 22q11.21 Rare single gene variant
3
 26 18 Krumm N , et al. 2015 Edit
GEN147 LZTS2 leucine zipper, putative tumor suppressor 2 10q24.31 Genetic Association
2 4 Wang K , et al. 2009 Edit
GEN1390 MACF1 microtubule actin crosslinking factor 1 1p34.3 Rare single gene variant
3
 22 9 Iossifov I et al. 2014 Edit
GEN148 MACROD2 MACRO domain containing 2 20p12.1 Genetic Association
2
 19 22 Anney R , et al. 2010 Edit
GEN1427 MAGEC3 MAGE family member C3 Xq27.2 Rare single gene variant
2
 4 4 et al. Edit
GEN405 MAGED1 MAGE family member D1 Xp11.22 Functional
2
 2 3 Dombret C , et al. 2012 Edit
GEN578 MAGEL2 MAGE-like 2 15q11.2 Syndromic
4
 56 25 Schaaf CP , et al. 2013 Edit
GEN668 MAL mal, T-cell differentiation protein 2q11.1 Functional
0 2 Gupta S , et al. 2014 Edit
GEN149 MAOA monoamine oxidase A Xp11.3 Genetic Association
2
 17 20 Cohen IL , et al. 2003 Edit
GEN524 MAOB monoamine oxidase B Xp11.3 Multigenic CNV
0
 7 6 Saito M , et al. 2013 Edit
GEN1150 MAP1A microtubule associated protein 1A 15q15.3 Rare single gene variant
0
 1 4 Myers RA , et al. 2011 Edit
GEN1394 MAP1B microtubule associated protein 1B 5q13.2 Functional
4
 17 13 Spataro N et al. 2023 Edit
GEN150 MAP2 microtubule-associated protein 2 2q34 Rare Single Gene variant
2
 5 7 Mukaetova-Ladinska EB , et al. 2004 Edit
GEN1327 MAP4K1 mitogen-activated protein kinase kinase kinase kinase 1 19q13.2 Rare single gene variant
2
 4 5 Iossifov I et al. 2014 Edit
GEN1369 MAP4K4 mitogen-activated protein kinase kinase kinase kinase 4 2q11.2 Rare single gene variant
3
 4 2 Zhou X et al. 2022 Edit
GEN418 MAPK1 Mitogen-activated protein kinase 1 22q11.22 Functional
2
 11 5 Satoh Y , et al. 2011 Edit
GEN691 MAPK12 mitogen-activated protein kinase 12 22q13.33 Rare single gene variant
0
 3 2 Li J , et al. 2015 Edit
GEN284 MAPK3 mitogen-activated protein kinase 3 16p11.2 Rare Single Gene variant
3
 13 6 Schaaf CP , et al. 2011 Edit
GEN1300 MAPK8IP1 mitogen-activated protein kinase 8 interacting protein 1 11p11.2 Rare single gene variant
2
 3 4 Iossifov I et al. 2014 Edit
GEN419 MAPK8IP2 Mitogen-activated protein kinase 8 interacting protein 2 22q13.33 Functional
0 1 Giza J , et al. 2010 Edit
GEN1239 MAPT microtubule associated protein tau 17q21.31 Genetic association
2
 2 4 Grove J , et al. 2019 Edit
GEN1206 MAPT-AS1 MAPT antisense RNA 1 17q21.31 Genetic association
1 1 Matoba N et al. 2020 Edit
GEN151 MARK1 microtubule affinity regulating kinase 1 1q41 Genetic association/Functional
2
 15 12 Maussion G , et al. 2008 Edit
GEN1348 MARK2 microtubule affinity regulating kinase 2 11q13.1 Rare single gene variant
4
 18 5 Zhou X et al. 2022 Edit
GEN1302 MAST3 microtubule associated serine/threonine kinase 3 19p13.11 Functional
4
 20 7 Spinelli E et al. 2021 Edit
GEN152 MBD1 methyl-CpG binding domain protein 1 18q21.1 Rare Single Gene variant
2
 13 8 Li H , et al. 2005 Edit
GEN153 MBD3 methyl-CpG binding domain protein 3 19p13.3 Rare Single Gene variant, Genetic Association
2
 18 4 Cukier HN , et al. 2009 Edit
GEN154 MBD4 methyl-CpG binding domain protein 4 3q21.3 Rare Single Gene variant, Genetic Association
2
 12 7 Cukier HN , et al. 2009 Edit
GEN345 MBD5 Methyl-CpG binding domain protein 5 2q23.1 Rare single gene variant
4
 125 43 Wagenstaller J , et al. 2007 Edit
GEN437 MBD6 Methyl-CpG binding domain protein 6 12q13.3 Rare single gene variant
3
 17 3 Cukier HN , et al. 2012 Edit
GEN846 MBOAT7 membrane bound O-acyltransferase domain containing 7 19q13.42 Rare single gene variant
2
 Yes 49 20 Johansen A , et al. 2016 Edit
GEN551 MC4R Melanocortin 4 receptor 18q21.32 Functional
0 4 Xu P , et al. 2013 Edit
GEN325 MCC MCC, WNT signaling pathway regulator 5q22.2 Rare single gene variant
2
 12 7 Barber JC , et al. 1994 Edit
GEN811 MCM4 minichromosome maintenance complex component 4 8q11.21 Rare single gene variant
2
 4 4 Fromer M , et al. 2014 Edit
GEN1000 MCM6 minichromosome maintenance complex component 6 2q21.3 Rare single gene variant
3
 10 4 Iossifov I et al. 2014 Edit
GEN155 MCPH1 microcephalin 1 8p23.1 Rare Single Gene variant
3
 22 19 Ozgen HM , et al. 2009 Edit
GEN156 MDGA2 MAM domain containing glycosylphosphatidylinositol anchor 2 14q21.3 Genetic Association
2
 21 9 Bucan M , et al. 2009 Edit
GEN157 MECP2 Methyl CpG binding protein 2 Xq28 Syndromic
5
 288 130 Amir RE , et al. 1999 Edit
GEN158 MED12 mediator complex subunit 12 Xq13.1 Genetic Association
3
 48 32 Beyer KS , et al. 2002 Edit
GEN1090 MED12L mediator complex subunit 12L 3q25.1 Rare single gene variant
3
 16 7 Iossifov I et al. 2014 Edit
GEN884 MED13 mediator complex subunit 13 17q23.2 Rare single gene variant
4
 39 14 Iossifov I et al. 2014 Edit
GEN649 MED13L Mediator complex subunit 13-like 12q24.21 Rare single gene variant
4
 126 54 Iossifov I , et al. 2012 Edit
GEN1359 MED23 mediator complex subunit 23 6q23.2 Rare single gene variant
2
 4 4 Fu JM et al. 2022 Edit
GEN159 MEF2C myocyte enhancer factor 2C 5q14.3 Rare Single Gene variant
4
 Yes 99 53 Novara F , et al. 2010 Edit
GEN906 MEGF10 multiple EGF like domains 10 5q23.2 Genetic association
2
 9 8 Wu Z , et al. 2017 Edit
GEN930 MEGF11 multiple EGF like domains 11 15q22.31 Rare single gene variant
3
 8 9 Sanders SJ , et al. 2012 Edit
GEN1028 MEIS2 Meis homeobox 2 15q14 Syndromic
4
 40 13 Louw JJ , et al. 2015 Edit
GEN1091 MEMO1 mediator of cell motility 1 2p22.3 Rare single gene variant
2
 1 2 Iossifov I et al. 2014 Edit
GEN160 MET met proto-oncogene (hepatocyte growth factor receptor) 7q31.2 Genetic Association
2
 28 42 Campbell DB , et al. 2006 Edit
GEN1096 METTL26 methyltransferase like 26 16p13.3 Rare single gene variant
2
 2 2 Iossifov I et al. 2014 Edit
GEN765 MFRP Membrane frizzled-related protein 11q23.3 Rare single gene variant
3
 12 8 Sanders SJ , et al. 2015 Edit
GEN660 MIB1 Mindbomb E3 ubiquitin protein ligase 1 18q11.2 Rare single gene variant
3
 31 10 De Rubeis S , et al. 2014 Edit
GEN1328 MINK1 misshapen like kinase 1 17p13.2 Rare single gene variant
3
 17 8 Iossifov I et al. 2014 Edit
GEN1049 MIR137 microRNA 137 1p21.3 Rare single gene variant
0
 11 10 Carter MT , et al. 2010 Edit
GEN1149 MKX mohawk homeobox 10p12.1 Rare single gene variant
2
 4 3 Satterstrom FK et al. 2020 Edit
GEN1100 MLANA melan-A 9p24.1 Rare single gene variant
2
 3 4 Iossifov I et al. 2014 Edit
GEN780 MNT MAX network transcriptional repressor 17p13.3 Genetic association
2 1 Kuo PH , et al. 2015 Edit
GEN746 MOCOS Molybdenum cofactor sulfurase 18q12.2 Rare single gene variant
2
 7 7 Fron F , et al. 2015 Edit
GEN161 MRTFB myocardin related transcription factor B 16p13.12 Genetic Association
3
 13 12 Holt R , et al. 2010 Edit
GEN921 MSANTD2 Myb/SANT DNA binding domain containing 2 11q24.2 Rare single gene variant
2
 3 2 Lim ET , et al. 2017 Edit
GEN1404 MSL2 MSL complex subunit 2 3q22.3 Rare single gene variant
3
 9 5 Costa CIS et al. 2023 Edit
GEN1225 MSL3 MSL complex subunit 3 Xp22.2 Rare single gene variant
4
 36 6 Brunet T et al. 2020 Edit
GEN379 MSN Moesin Xq12 Functional
1 3 Kerin T , et al. 2012 Edit
GEN582 MSNP1AS Moesinpseudogene 1, antisense Genetic Association
6 13 Kerin T , et al. 2012 Edit
GEN335 MSR1 macrophage scavenger receptor 1 8p22 Rare Single Gene variant
2
 8 5 O'Roak BJ , et al. 2012 Edit
GEN1238 MSRA methionine sulfoxide reductase A 8p23.1 Genetic association
2
 7 13 Huang K et al. 2021 Edit
GEN1190 MSX2 msh homeobox 2 5q35.2 Rare single gene variant
2
 5 2 C Yuen RK et al. 2017 Edit
GEN162 MTF1 metal-regulatory transcription factor 1 1p34.3 Genetic Association
2
 4 6 Serajee FJ , et al. 2004 Edit
GEN163 MTHFR methylenetetrahydrofolate reductase (NAD(P)H) 1p36.22 Genetic Association
2
 20 24 James SJ , et al. 2006 Edit
GEN785 MTOR mechanistic target of rapamycin kinase 1p36.22 Rare single gene variant
4
 69 34 Mroske C , et al. 2015 Edit
GEN529 MTR 5-methyltetrahydrofolate-homocysteine methyltransferase 1q43 Functional
2
 9 8 Muratore CR , et al. 2013 Edit
GEN1391 MTSS2 MTSS I-BAR domain containing 2 16q22.1 Rare single gene variant
4
 13 5 Satterstrom FK et al. 2020 Edit
GEN438 MTX2 Metaxin 2 2q31.1 Functional
0 1 Anitha A , et al. 2012 Edit
GEN934 MUC12 mucin 12, cell surface associated 7q22.1 Rare single gene variant
2
 12 4 De Rubeis S , et al. 2014 Edit
GEN943 MUC4 mucin 4, cell surface associated 3q29 Rare single gene variant
3
 96 9 Iossifov I , et al. 2012 Edit
GEN1362 MYCBP2 MYC binding protein 2 13q22.3 Rare single gene variant
4
 29 9 De Rubeis S , et al. 2014 Edit
GEN1036 MYH10 myosin heavy chain 10 17p13.1 Rare single gene variant
3
 12 8 Willsey AJ , et al. 2013 Edit
GEN502 MYH4 Myosin, heavy chain 4, skeletal muscle 17p13.1 Rare single gene variant
2
 10 7 Prasad A , et al. 2013 Edit
GEN1230 MYH9 myosin heavy chain 9 22q12.3 Rare single gene variant
4
 62 8 Wang T et al. 2020 Edit
GEN1209 MYLK myosin light chain kinase 3q21.1 Rare single gene variant
2
 5 4 Luo Y et al. 2020 Edit
GEN164 MYO16 myosin XVI 13q33.3 Genetic Association
2
 19 10 Wang K , et al. 2009 Edit
GEN165 MYO1A myosin IA 12q13.3 Rare Single Gene variant
2
 22 12 O'Roak BJ , et al. 2011 Edit
GEN1001 MYO1E myosin IE 15q22.2 Rare single gene variant
3
 11 6 Iossifov I et al. 2014 Edit
GEN892 MYO5A myosin VA 15q21.2 Rare single gene variant
3
 15 7 De Rubeis S , et al. 2014 Edit
GEN932 MYO5C myosin VC 15q21.2 Rare single gene variant
2
 7 5 Iossifov I et al. 2014 Edit
GEN661 MYO9B Myosin IXB 19p13.11 Rare single gene variant
3
 34 6 De Rubeis S , et al. 2014 Edit
GEN1202 MYOCD myocardin 17p12 Rare single gene variant
2
 8 3 Trost B et al. 2020 Edit
GEN693 MYOZ1 myozenin 1 10q22.2 Rare single gene variant
2
 1 1 Li J , et al. 2015 Edit
GEN533 MYT1L Myelin transcription factor 1-like 2p25.3 Multigenic CNV
5
 147 39 Meyer KJ , et al. 2011 Edit
GEN1397 NAA10 N-alpha-acetyltransferase 10, NatA catalytic subunit Xq28 Syndromic/Functional
4
 83 13 Lyon GJ et al. 2023 Edit
GEN662 NAA15 N(alpha)-acetyltransferase 15, NatA auxiliary subunit 4q31.1 Rare single gene variant
4
 97 24 De Rubeis S , et al. 2014 Edit
GEN777 NAALADL2 N-acetylated alpha-linked acidic dipeptidase-like 2 3q26.31 Genetic association
2
 6 4 Kuo PH , et al. 2015 Edit
GEN868 NACC1 nucleus accumbens associated 1 19p13.13 Rare single gene variant
3
 16 11 Schoch K , et al. 2017 Edit
GEN1439 NASP nuclear autoantigenic sperm protein 1p34.1 Rare single gene variant
2
 5 3 et al. Edit
GEN814 NAV2 neuron navigator 2 11p15.1 Rare single gene variant
3
 26 13 Sanders SJ , et al. 2012 Edit
GEN1347 NAV3 neuron navigator 3 12q21.2 Rare single gene variant
4
 44 5 Zhou X et al. 2022 Edit
GEN166 NBEA neurobeachin 13q13.3 Rare single gene variant
4
 38 26 Castermans D , et al. 2003 Edit
GEN1212 NCAPH2 non-SMC condensin II complex subunit H2 22q13.33 Rare single gene variant
2
 2 1 Luo Y et al. 2020 Edit
GEN650 NCKAP1 NCK-associated protein 1 2q32.1 Rare single gene variant
4
 39 15 Iossifov I , et al. 2012 Edit
GEN492 NCKAP5 NCK-associated protein 5 2q21.2 Rare single gene variant
2
 10 3 Prasad A , et al. 2013 Edit
GEN350 NCKAP5L NCK-associated protein 5-like 12q13.12 Rare single gene variant
2
 Yes 12 4 Chahrour MH , et al. 2012 Edit
GEN1170 NCOA1 nuclear receptor coactivator 1 2p23.3 Rare single gene variant
3
 7 4 Iossifov I et al. 2014 Edit
GEN855 NCOR1 nuclear receptor corepressor 1 17p12-p11.2 Rare single gene variant
4
 60 12 Iossifov I , et al. 2012 Edit
GEN168 NDUFA5 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5, 13kDa 7q31.32 Genetic Association
2 3 Marui T , et al. 2010 Edit
GEN439 NEFL Neurofilament, light polypeptide 8p21.2 Genetic association/functional
0
 2 2 Anitha A , et al. 2012 Edit
GEN1029 NEGR1 neuronal growth regulator 1 1p31.1 Rare single gene variant
2 6 Singh K , et al. 2018 Edit
GEN440 NELL1 neural EGFL like 1 11p15.1 Genetic association
3 3 Connolly JJ , et al. 2012 Edit
GEN782 NEO1 Neogenin 1 15q24.1 Multigenic CNV, rare single gene variant
2
 Yes 10 3 Siu WK , et al. 2015 Edit
GEN1256 NEUROD2 neuronal differentiation 2 17q12 Rare single gene variant
4
 10 4 Sega AG et al. 2019 Edit
GEN538 NEXMIF neurite extension and migration factor Xq13.3 Rare single gene variant
4
 113 36 Cantagrel V , et al. 2004 Edit
GEN169 NF1 neurofibromin 1 (neurofibromatosis, von Recklinghausen disease, Watson disease) 17q11.2 Rare Single Gene variant, Genetic Association
5
 48 39 Marui T , et al. 2004 Edit
GEN1059 NFE2L3 nuclear factor, erythroid 2 like 3 7p15.2 Rare single gene variant
3
 5 6 Iossifov I et al. 2014 Edit
GEN290 NFIA nuclear factor I/A 1p31.3 Rare Single Gene variant
3
 30 18 Mikhail FM , et al. 2011 Edit
GEN1047 NFIB nuclear factor I B 9p23-p22.3 Rare single gene variant
3
 19 7 Iossifov I et al. 2014 Edit
GEN805 NFIX nuclear factor I/X (CCAAT-binding transcription factor) 19p13.13 Syndromic
2
 72 20 Malan V , et al. 2010 Edit
GEN766 NINL Ninein-like 20p11.21 Rare single gene variant
2
 11 10 Sanders SJ , et al. 2015 Edit
GEN318 NIPA1 non imprinted in Prader-Willi/Angelman syndrome 1 15q11.2 Rare single gene variant
2
 6 6 Leblond CS , et al. 2012 Edit
GEN319 NIPA2 non imprinted in Prader-Willi/Angelman syndrome 2 15q11.2 Multigenic CNV
2
 3 3 Leblond CS , et al. 2012 Edit
GEN278 NIPBL Nipped-B homolog (Drosophila) 5p13.2 Syndromic
2
 25 19 Krantz ID , et al. 2004 Edit
GEN1241 NKX2-2 NK2 homeobox 2 20p11.22 Genetic association
1 2 Grove J , et al. 2019 Edit
GEN170 NLGN1 neuroligin 1 3q26.31 Genetic Association
3
 17 21 Glessner JT , et al. 2009 Edit
GEN627 NLGN2 Neuroligin 2 17p13.1 Rare single gene variant
3
 7 13 Whr M , et al. 2012 Edit
GEN171 NLGN3 neuroligin 3 Xq13.1 Rare Single Gene variant
3
 37 49 Jamain S , et al. 2003 Edit
GEN172 NLGN4X neuroligin 4, X-linked Xp22.32-p22.31 Rare Single Gene variant
4
 55 44 Jamain S , et al. 2003 Edit
GEN173 NLGN4Y neuroligin 4, Y-linked Yq11.221 Genetic Association
2
 14 6 Ylisaukko-oja T , et al. 2005 Edit
GEN694 NOS1 nitric oxide synthase 1 12q24.22 Rare single gene variant
2
 7 6 Li J , et al. 2015 Edit
GEN174 NOS1AP nitric oxide synthase 1 (neuronal) adaptor protein 1q23.3 Rare single Gene variant
2
 3 7 Delorme R , et al. 2010 Edit
GEN175 NOS2 nitric oxide synthase 2 17q11.2 Genetic Association
2
 8 10 Kim HW , et al. 2008 Edit
GEN1428 NOTCH1 notch receptor 1 9q34.3 Rare single gene variant
3
 21 10 et al. Edit
GEN1019 NOTCH2NLA notch 2 N-terminal like A 1q21.1 Functional/Multigenic CNV
0 1 Fiddes IT , et al. 2018 Edit
GEN1172 NOVA2 NOVA alternative splicing regulator 2 19q13.32 Syndromic
3
 16 3 Mattioli F et al. 2020 Edit
GEN176 NPAS2 neuronal PAS domain protein 2 2q11.2 Genetic Association
3 4 Nicholas B , et al. 2007 Edit
GEN1329 NPFFR2 neuropeptide FF receptor 2 4q13.3 Rare single gene variant
3
 9 7 Iossifov I et al. 2014 Edit
GEN1431 NPTN neuroplastin 15q24.1 Rare single gene variant
2
 3 3 et al. Edit
GEN898 NR1D1 nuclear receptor subfamily 1 group D member 1 17q21.1 Rare single gene variant
2
 8 4 Yang Z , et al. 2015 Edit
GEN1009 NR1H2 nuclear receptor subfamily 1 group H member 2 19q13.33 Functional
2
 1 2 Cai Y , et al. 2018 Edit
GEN817 NR2F1 nuclear receptor subfamily 2 group F member 1 5q15 Rare single gene variant
4
 83 27 Bosch DG , et al. 2014 Edit
GEN663 NR3C2 Nuclear receptor subfamily 3, group C, member 2 4q31.23 Rare single gene variant
3
 22 12 De Rubeis S , et al. 2014 Edit
GEN1016 NR4A2 nuclear receptor subfamily 4 group A member 2 2q24.1 Rare single gene variant
3
 20 10 Lvy J , et al. 2018 Edit
GEN177 NRCAM neuronal cell adhesion molecule 7q31.1 Genetic Association
2
 9 6 Marui T , et al. 2008 Edit
GEN628 NRG1 Neuregulin 1 8p12 Functional
0 4 Ehrlichman RS , et al. 2009 Edit
GEN178 NRP2 neuropilin 2 2q33.3 Genetic Association
2
 6 10 Wu S , et al. 2007 Edit
GEN179 NRXN1 neurexin 1 2p16.3 Rare Single Gene variant
5
 Yes 361 113 Feng J , et al. 2006 Edit
GEN271 NRXN2 neurexin 2 11q13.1 Rare Single Gene variant
3
 28 17 Gauthier J , et al. 2011 Edit
GEN305 NRXN3 neurexin 3 14q24.3-q31.1 Rare Single Gene variant
3
 36 27 Vaags AK , et al. 2012 Edit
GEN279 NSD1 nuclear receptor binding SET domain protein 1 5q35.3 Syndromic
4
 61 34 Kurotaki N , et al. 2002 Edit
GEN1229 NSD2 nuclear receptor binding SET domain protein 2 4p16.3 Rare single gene variant
4
 37 13 Wang T et al. 2020 Edit
GEN167 NSMCE3 NSE3 homolog, SMC5-SMC6 complex component 15q13.1 Functional
0
 3 5 Chibuk TK , et al. 2002 Edit
GEN180 NTNG1 netrin G1 1p13.3 Syndromic
2
 5 8 Borg I , et al. 2005 Edit
GEN1117 NTNG2 netrin G2 9q34.13 Syndromic
2
 Yes 16 6 Abu-Libdeh B , et al. 2019 Edit
GEN181 NTRK1 neurotrophic tyrosine kinase, receptor, type 1 1q23.1 Rare Single Gene variant
2
 15 9 Chakrabarti B , et al. 2009 Edit
GEN986 NTRK2 neurotrophic receptor tyrosine kinase 2 9q21.33 Syndromic
3
 23 8 Hamdan FF , et al. 2017 Edit
GEN182 NTRK3 neurotrophic tyrosine kinase, receptor, type 3 15q25.3 Rare Single Gene variant, Genetic Association
2
 11 15 Chakrabarti B , et al. 2009 Edit
GEN756 NUAK1 NUAK family, SNF1-like kinase, 1 12q23.3 Rare single gene variant
2
 4 6 Iossifov I , et al. 2012 Edit
GEN1045 NUDCD2 NudC domain containing 2 5q34 Rare single gene variant
2
 11 4 C Yuen RK et al. 2017 Edit
GEN812 NUP133 nucleoporin 133kDa 1q42.13 Rare single gene variant
2
 4 5 Iossifov I , et al. 2012 Edit
GEN1164 NUP155 nucleoporin 155 5p13.2 Rare single gene variant
2
 4 4 Satterstrom FK et al. 2020 Edit
GEN1207 NXF1 nuclear RNA export factor 1 11q12.3 Rare single gene variant
0
 2 2 Luo Y et al. 2020 Edit
GEN483 NXF5 nuclear RNA export factor 5 Xq22.1 Rare Single Gene variant
0
 2 4 Piton A , et al. 2012 Edit
GEN297 NXPH1 neurexophilin 1 7p21.3 Rare Single Gene variant
2
 10 6 Salyakina D , et al. 2011 Edit
GEN818 OCRL oculocerebrorenal syndrome of Lowe Xq26.1 Syndromic
2
 7 10 Kenworthy L , et al. 1993 Edit
GEN907 ODAD4 outer dynein arm docking complex subunit 4 17q21.2 Genetic association
9 1 Vojinovic D , et al. 2017 Edit
GEN961 OFD1 OFD1, centriole and centriolar satellite protein Xp22.2 Rare single gene variant
3
 6 5 Krumm N , et al. 2015 Edit
GEN547 OGT O-linked N-acetylglucosamine (GlcNAc) transferase Xq13.1 Functional
0
 4 5 Howerton CL , et al. 2013 Edit
GEN184 OPHN1 oligophrenin 1 Xq12 Rare Single Gene variant
2
 23 19 Piton A , et al. 2010 Edit
GEN185 OPRM1 opioid receptor, mu 1 6q25.2 Functional
2
 3 6 Moles A , et al. 2004 Edit
GEN186 OR1C1 olfactory receptor, family 1, subfamily C, member 1 1q44 Rare Single Gene variant
2
 6 4 Bucan M , et al. 2009 Edit
GEN776 OR2M4 Olfactory receptor, family 2, subfamily M, member 4 1q44 Genetic association
4 1 Kuo PH , et al. 2015 Edit
GEN800 OR2T10 olfactory receptor family 2 subfamily T member 10 1q44 Rare single gene variant
2
 3 4 Iossifov I et al. 2014 Edit
GEN767 OR52M1 Olfactory receptor, family 52, subfamily M, member 1 11p15.4 Rare single gene variant
2
 2 3 Sanders SJ , et al. 2015 Edit
GEN1005 OTUD7A OTU deubiquitinase 7A 15q13.3 Multigenic CNV
2
 6 7 Uddin M , et al. 2018 Edit
GEN376 OTX1 orthodenticle homeobox 1 2p15 Genetic association
4 3 Liu X , et al. 2011 Edit
GEN828 OXT oxytocin/neurophysin I prepropeptide 20p13 Genetic association
2
 9 5 Ebstein RP , et al. 2009 Edit
GEN187 OXTR oxytocin receptor 3p25.3 Genetic Association
0
 53 50 Wu S , et al. 2005 Edit
GEN629 P2RX4 Purinergic receptor P2X, ligand-gated ion channel, 4 12q24.31 Functional
0 1 Wyatt LR , et al. 2013 Edit
GEN768 P2RX5 Purinergic receptor P2X, ligand gated ion channel, 5 17p13.2 Rare single gene variant
2
 4 5 Sanders SJ , et al. 2015 Edit
GEN723 P4HA2 Prolyl 4-hydroxylase, alpha polypeptide II 5q31.1 Rare single gene variant
3
 14 5 De Rubeis S , et al. 2014 Edit
GEN1336 PABPC1 poly(A) binding protein cytoplasmic 1 8q22.3 Rare single gene variant
3
 10 6 De Rubeis S , et al. 2014 Edit
GEN803 PACS1 phosphofurin acidic cluster sorting protein 1 11q13.1-q13.2 Syndromic
4
 54 20 Schuurs-Hoeijmakers JH , et al. 2016 Edit
GEN1012 PACS2 phosphofurin acidic cluster sorting protein 2 14q32.33 Rare single gene variant
4
 40 10 Olson HE , et al. 2018 Edit
GEN630 PAFAH1B1 Platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa) 17p13.3 Functional
0
 10 9 Sudarov A , et al. 2013 Edit
GEN1113 PAFAH1B2 platelet activating factor acetylhydrolase 1b catalytic subunit 2 11q23.3 Rare single gene variant
2
 4 4 Iossifov I et al. 2014 Edit
GEN527 PAH Phenylalanine hydroxylase 12q23.2 Rare single gene variant
2
 Yes 22 12 Yu TW , et al. 2013 Edit
GEN1127 PAK1 p21 (RAC1) activated kinase 1 11q13.5-q14.1 Syndromic
3
 13 7 Kernohan KD , et al. 2019 Edit
GEN1037 PAK2 p21 (RAC1) activated kinase 2 3q29 Rare single gene variant/Functional
2
 5 6 Wang Y , et al. 2018 Edit
GEN692 PALS2 protein associated with LIN7 2, MAGUK family member 7p15.3 Rare single gene variant
2
 5 4 Li J , et al. 2015 Edit
GEN1067 PAPOLG poly(A) polymerase gamma 2p16.1 Rare single gene variant
3
 10 6 De Rubeis S , et al. 2014 Edit
GEN391 PARD3B Par-3 partitioning defective 3 homolog B (C. elegans) 2q33.3 Genetic association
2
 13 9 Anney R , et al. 2012 Edit
GEN580 PATJ PATJ, crumbs cell polarity complex component 1p31.3 Rare single gene variant
2
 10 6 Kenny EM , et al. 2013 Edit
GEN667 PAX5 Paired box 5 9p13.2 Rare Single Gene variant
4
 25 10 Iossifov I , et al. 2012 Edit
GEN743 PAX6 Paired box 6 11p13 Multigenic CNV
2
 6 9 Umeda T , et al. 2011 Edit
GEN1073 PBX1 PBX homeobox 1 1q23.3 Rare single gene variant
4
 15 8 De Rubeis S , et al. 2014 Edit
GEN1330 PC pyruvate carboxylase 11q13.2 Rare single gene variant
3
 18 8 Iossifov I et al. 2014 Edit
GEN857 PCCA propionyl-CoA carboxylase alpha subunit 13q32.3 Syndromic
2
 22 13 Al-Owain M , et al. 2013 Edit
GEN858 PCCB propionyl-CoA carboxylase beta subunit 3q22.3 Syndromic
2
 35 12 Witters P , et al. 2016 Edit
GEN189 PCDH10 protocadherin 10 4q28.3 Rare Single Gene variant
2
 7 11 Morrow EM , et al. 2008 Edit
GEN894 PCDH11X protocadherin 11 X-linked Xq21.31 Rare single gene variant
2
 5 4 Lim ET , et al. 2013 Edit
GEN399 PCDH15 protocadherin related 15 10q21.1 Genetic association
3
 45 11 Anney R , et al. 2012 Edit
GEN190 PCDH19 protocadherin 19 Xq22.1 Syndromic
4
 238 59 Piton A , et al. 2010 Edit
GEN324 PCDH8 protocadherin 8 13q14.3 Rare Single Gene variant
2
 2 2 Leblond CS , et al. 2012 Edit
GEN191 PCDH9 protocadherin 9 13q21.32 Rare Single Gene variant
2
 13 11 Marshall CR , et al. 2008 Edit
GEN441 PCDHA1 Protocadherin alpha 1 5q31.3 Rare single gene variant
2
 7 4 Anitha A , et al. 2012 Edit
GEN450 PCDHA10 Protocadherin alpha 10 5q31.3 Rare single gene variant
2
 11 6 Anitha A , et al. 2012 Edit
GEN451 PCDHA11 Protocadherin alpha 11 5q31.3 Rare single gene variant
2
 10 6 Anitha A , et al. 2012 Edit
GEN452 PCDHA12 Protocadherin alpha 12 5q31.3 Rare single gene variant
2
 8 5 Anitha A , et al. 2012 Edit
GEN453 PCDHA13 Protocadherin alpha 13 5q31.3 Rare single gene variant
2
 7 5 Anitha A , et al. 2012 Edit
GEN442 PCDHA2 Protocadherin alpha 2 5q31.3 Rare single gene variant
2
 9 5 Anitha A , et al. 2012 Edit
GEN443 PCDHA3 Protocadherin alpha 3 5q31.3 Rare single gene variant
2
 8 5 Anitha A , et al. 2012 Edit
GEN444 PCDHA4 Protocadherin alpha 4 5q31.3 Rare single gene variant
2
 10 6 Anitha A , et al. 2012 Edit
GEN445 PCDHA5 Protocadherin alpha 5 5q31.3 Rare single gene variant
2
 11 7 Anitha A , et al. 2012 Edit
GEN446 PCDHA6 Protocadherin alpha 6 5q31.3 Rare single gene variant
2
 8 4 Anitha A , et al. 2012 Edit
GEN447 PCDHA7 Protocadherin alpha 7 5q31.3 Rare single gene variant
2
 10 7 Anitha A , et al. 2012 Edit
GEN448 PCDHA8 Protocadherin alpha 8 5q31.3 Rare single gene variant
2
 10 5 Anitha A , et al. 2012 Edit
GEN449 PCDHA9 Protocadherin alpha 9 5q31.3 Rare single gene variant
2
 7 4 Anitha A , et al. 2012 Edit
GEN454 PCDHAC1 Protocadherin alpha subfamily C, 1 5q31.3 Genetic association
2
 6 5 Anitha A , et al. 2012 Edit
GEN455 PCDHAC2 Protocadherin alpha subfamily C, 2 5q31.3 Genetic association
2
 4 4 Anitha A , et al. 2012 Edit
GEN342 PCDHGA11 protocadherin gamma subfamily A, 11 5q31.3 Rare Single Gene variant
2
 5 4 Sato D , et al. 2012 Edit
GEN1393 PCLO piccolo presynaptic cytomatrix protein 7q21.11 Genetic association
3
 15 11 Liu D et al. 2023 Edit
GEN1101 PCM1 pericentriolar material 1 8p22 Rare single gene variant
2
 7 6 Iossifov I et al. 2014 Edit
GEN948 PDCD1 programmed cell death 1 2q37.3 Rare single gene variant
2
 3 4 O'Roak BJ , et al. 2012 Edit
GEN309 PDE1C phosphodiesterase 1C 7p14.3 Rare Single Gene variant
2
 3 3 Vaags AK , et al. 2012 Edit
GEN1346 PDE3B phosphodiesterase 3B 11p15.2 Rare single gene variant
3
 24 8 Kim IB et al. 2022 Edit
GEN311 PDE4A phosphodiesterase 4A 19p13.2 Functional
2
 5 5 Braun NN , et al. 2007 Edit
GEN312 PDE4B phosphodiesterase 4B, cAMP-specific 1p31.3 Functional
2
 6 7 Braun NN , et al. 2007 Edit
GEN1429 PDHA1 pyruvate dehydrogenase E1 subunit alpha 1 Xp22.12 Rare single gene variant
2
 4 5 et al. Edit
GEN1068 PDK2 pyruvate dehydrogenase kinase 2 17q21.33 Rare single gene variant
2
 4 6 Iossifov I et al. 2014 Edit
GEN192 PDZD4 PDZ domain containing 4 Xq28 Rare Single Gene variant
0
 4 5 Piton A , et al. 2010 Edit
GEN1308 PDZD8 PDZ domain containing 8 10q25.3-q26.11 Functional
2
 5 3 Al-Amri AH et al. 2022 Edit
GEN1215 PEBP4 phosphatidylethanolamine binding protein 4 8p21.3 Rare single gene variant
2
 2 2 Luo Y et al. 2020 Edit
GEN276 PECR peroxisomal trans-2-enoyl-CoA reductase 2q35 Rare Single Gene variant
0
 Yes 4 3 Najmabadi H , et al. 2011 Edit
GEN193 PER1 period homolog 1 (Drosophila) 17p13.1 Genetic Association
2
 12 9 Nicholas B , et al. 2007 Edit
GEN899 PER2 period circadian clock 2 2q37.3 Rare single gene variant
3
 14 8 Iossifov I et al. 2014 Edit
GEN326 PEX7 peroxisomal biogenesis factor 7 6q23.3 Genetic Association
2
 Yes 6 5 Ro M , et al. 2012 Edit
GEN859 PGLYRP2 peptidoglycan recognition protein 2 19p13.12 Rare single gene variant
2
 5 6 Arentsen T , et al. 2016 Edit
GEN910 PHB1 prohibitin 1 17q21.33 Genetic association
1 1 Cantor RM , et al. 2017 Edit
GEN1151 PHF12 PHD finger protein 12 17q11.2 Rare single gene variant
4
 25 5 Satterstrom FK et al. 2020 Edit
GEN1298 PHF14 PHD finger protein 14 7p21.3 Rare single gene variant
3
 20 6 Feliciano P et al. 2019 Edit
GEN651 PHF2 PHD finger protein 2 9q22.31 Rare single gene variant
3
 9 8 Iossifov I , et al. 2012 Edit
GEN1070 PHF21A PHD finger protein 21A 11p11.2 Syndromic
4
 29 17 Iossifov I et al. 2014 Edit
GEN885 PHF3 PHD finger protein 3 6q12 Rare single gene variant
3
 11 5 Iossifov I et al. 2014 Edit
GEN1228 PHF7 PHD finger protein 7 3p21.1 Rare single gene variant
2
 15 4 Wang T et al. 2020 Edit
GEN456 PHF8 PHD finger protein 8 Xp11.22 Syndromic
3
 33 13 Nava C , et al. 2012 Edit
GEN856 PHIP pleckstrin homology domain interacting protein 6q14.1 Rare single gene variant
4
 132 25 Iossifov I et al. 2014 Edit
GEN1388 PHLPP1 PH domain and leucine rich repeat protein phosphatase 1 18q21.33 Rare single gene variant
2
 9 5 Wilfert AB et al. 2021 Edit
GEN738 PHRF1 PHD and ring finger domains 1 11p15.5 Rare single gene variant
2
 6 5 De Rubeis S , et al. 2014 Edit
GEN1260 PIDD1 p53-induced death domain protein 1 11p15.5 Syndromic
2
 Yes 11 4 Zaki MS et al. 2021 Edit
GEN1255 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha 3q26.32 Rare single gene variant
3
 12 8 Turner TN et al. 2016 Edit
GEN194 PIK3CG phosphoinositide-3-kinase, catalytic, gamma polypeptide 7q22.3 Genetic Association
2
 2 5 Serajee FJ , et al. 2003 Edit
GEN552 PIK3R2 phosphoinositide-3-kinase regulatory subunit 2 19p13.11 Syndromic
2
 12 10 Rivire JB , et al. 2012 Edit
GEN195 PINX1 PIN2/TERF1 interacting, telomerase inhibitor 1 8p23.1 Rare Single Gene variant
2
 4 7 Pinto D , et al. 2010 Edit
GEN196 PITX1 paired-like homeodomain 1 5q31.1 Genetic Association
2
 9 6 Philippi A , et al. 2007 Edit
GEN1189 PJA1 praja ring finger ubiquitin ligase 1 Xq13.1 Syndromic
2
 7 1 Suzuki T et al. 2020 Edit
GEN371 PLAUR Plasminogen activator, urokinase receptor 19q13.31 Genetic association
2
 4 3 Campbell DB , et al. 2009 Edit
GEN316 PLCB1 phospholipase C, beta 1 (phosphoinositide-specific) 20p12.3 Rare Single Gene variant
2
 18 9 Christian SL , et al. 2008 Edit
GEN197 PLCD1 phospholipase C, delta 1 3p22.2 Rare Single Gene variant
2
 6 11 O'Roak BJ , et al. 2011 Edit
GEN1114 PLCD4 phospholipase C delta 4 2q35 Rare single gene variant
2
 4 5 De Rubeis S , et al. 2014 Edit
GEN1411 PLEKHA8 pleckstrin homology domain containing A8 7p14.3 Rare single gene variant
2
 3 2 Cirnigliaro M et al. 2023 Edit
GEN198 PLN phospholamban 6q22.31 Rare Single Gene variant
1 4 Marshall CR , et al. 2008 Edit
GEN972 PLPPR4 phospholipid phosphatase related 4 1p21.3-p21.2 Functional
2
 7 7 Vogt J , et al. 2015 Edit
GEN1257 PLXNA1 plexin A1 3q21.3 Rare single gene variant
3
 Yes 24 9 De Rubeis S , et al. 2014 Edit
GEN962 PLXNA3 plexin A3 Xq28 Rare single gene variant
3
 26 8 Krumm N , et al. 2015 Edit
GEN497 PLXNA4 Plexin A4 7q32.3 Functional
2
 5 6 Prasad A , et al. 2013 Edit
GEN872 PLXNB1 plexin B1 3p21.31 Rare single gene variant
3
 9 5 De Rubeis S , et al. 2014 Edit
GEN1015 PNPLA7 patatin like phospholipase domain containing 7 9q34.3 Rare single gene variant
2
 11 6 O'Roak BJ , et al. 2012 Edit
GEN368 POGZ Pogo transposable element with ZNF domain 1q21.3 Rare single gene variant
5
 208 61 Neale BM , et al. 2012 Edit
GEN922 POLA2 DNA polymerase alpha 2, accessory subunit 11q13.1 Rare single gene variant
2
 7 7 Iossifov I et al. 2014 Edit
GEN1312 POLR2A RNA polymerase II subunit A 17p13.1 Rare single gene variant
3
 39 11 Neale BM , et al. 2012 Edit
GEN1187 POLR3A RNA polymerase III subunit A 10q22.3 Syndromic
3
 Yes 14 11 C Yuen RK et al. 2017 Edit
GEN528 POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) 1p34.1 Syndromic
2
 Yes 22 10 Yu TW , et al. 2013 Edit
GEN942 POMT1 protein O-mannosyltransferase 1 9q34.13 Rare single gene variant
2
 17 4 Krumm N , et al. 2015 Edit
GEN199 PON1 paraoxonase 1 7q21.3 Genetic Association
2 5 D'Amelio M , et al. 2005 Edit
GEN495 POT1 Protection of telomeres 1 homolog (S. pombe) 7q31.33 Rare single gene variant
2
 4 3 Prasad A , et al. 2013 Edit
GEN806 POU3F2 POU class 3 homeobox 2 6q16.1 Functional
2
 22 9 Belinson H , et al. 2016 Edit
GEN1092 POU3F3 POU class 3 homeobox 3 2q12.1 Syndromic
3
 41 4 Snijders Blok L , et al. 2019 Edit
GEN512 PPFIA1 PTPRF interacting protein alpha 1 11q13.3 Rare single gene variant
2
 6 5 Schluth-Bolard C , et al. 2013 Edit
GEN1432 PPFIA3 PTPRF interacting protein alpha 3 19q13.33 Rare single gene variant
3
 26 8 et al. Edit
GEN901 PPM1D protein phosphatase, Mg2+/Mn2+ dependent 1D 17q23.2 Rare single gene variant
2
 64 10 Sanders SJ , et al. 2012 Edit
GEN359 PPP1R1B Protein phosphatase 1, regulatory (inhibitor) subunit 1B 17q12 Genetic association
2
 4 2 Hettinger JA , et al. 2012 Edit
GEN200 PPP1R3F protein phosphatase 1, regulatory (inhibitor) subunit 3F Xp11.23 Rare Single Gene variant
2
 18 7 Piton A , et al. 2010 Edit
GEN1165 PPP1R9B protein phosphatase 1 regulatory subunit 9B 17q21.33 Rare single gene variant
2
 8 4 Satterstrom FK et al. 2020 Edit
GEN1055 PPP2CA protein phosphatase 2 catalytic subunit alpha 5q31.1 Syndromic
3
 20 4 Reynhout S , et al. 2019 Edit
GEN810 PPP2R1B protein phosphatase 2 regulatory subunit A, beta 11q23.1 Rare single gene variant
2
 8 8 Sanders SJ , et al. 2012 Edit
GEN786 PPP2R5D Protein phosphatase 2, regulatory subunit B', delta 6p21.1 Rare single gene variant
4
 74 33 Shang L , et al. 2015 Edit
GEN1251 PPP3CA protein phosphatase 3 catalytic subunit alpha 4q24 Syndromic
3
 29 13 Myers CT et al. 2017 Edit
GEN1161 PPP5C protein phosphatase 5 catalytic subunit 19q13.32 Rare single gene variant
2
 4 3 Iossifov I et al. 2014 Edit
GEN791 PREX1 Phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1 20q13.13 Genetic association/Rare single gene variant/Functional
3
 11 6 Li J , et al. 2015 Edit
GEN588 PRICKLE1 Prickle homolog 1 (Drosophila) 12q12 Syndromic
2
 9 7 Paemka L , et al. 2013 Edit
GEN545 PRICKLE2 prickle planar cell polarity protein 2 3p14.1 Rare single gene variant/multigenic CNV
3
 14 8 Sowers LP , et al. 2013 Edit
GEN1102 PRKAR1B protein kinase cAMP-dependent type I regulatory subunit beta 7p22.3 Rare single gene variant
4
 20 7 De Rubeis S , et al. 2014 Edit
GEN1072 PRKCA protein kinase C alpha 17q24.2 Rare single gene variant
2
 7 7 De Rubeis S , et al. 2014 Edit
GEN201 PRKCB protein kinase C beta 16p12.2-p12.1 Genetic Association
2
 7 8 Philippi A , et al. 2005 Edit
GEN457 PRKD1 Protein kinase D1 14q12 Syndromic
2
 11 7 Ellaway CJ , et al. 2012 Edit
GEN1128 PRKD2 protein kinase D2 19q13.32 Rare single gene variant
3
 4 4 De Rubeis S , et al. 2014 Edit
GEN839 PRKDC protein kinase, DNA-activated, catalytic polypeptide 8q11.21 Syndromic
3
 17 9 Filiano AJ , et al. 2016 Edit
GEN188 PRKN parkin RBR E3 ubiquitin protein ligase 6q26 Genetic Association
2
 50 20 Glessner JT , et al. 2009 Edit
GEN639 PRODH Proline dehydrogenase (oxidase) 1 22q11.21 Syndromic
24 8 Afenjar A , et al. 2007 Edit
GEN1421 PRPF19 pre-mRNA processing factor 19 11q12.2 Rare single gene variant
3
 9 3 et al. Edit
GEN953 PRPF39 pre-mRNA processing factor 39 14q21.2 Rare single gene variant
2
 4 3 De Rubeis S , et al. 2014 Edit
GEN1337 PRPF8 pre-mRNA processing factor 8 17p13.3 Rare single gene variant
3
 25 9 Iossifov I et al. 2014 Edit
GEN1008 PRR12 proline rich 12 19q13.33 Syndromic
4
 35 7 Leduc MS , et al. 2018 Edit
GEN1378 PRR14L proline rich 14 like 22q12.2 Rare single gene variant
3
 5 5 C Yuen RK et al. 2017 Edit
GEN1412 PRR25 proline rich 25 16p13.3 Rare single gene variant
2
 6 2 Cirnigliaro M et al. 2023 Edit
GEN458 PRSS38 serine protease 38 1q42.13 Genetic association
2
 5 4 Connolly JJ , et al. 2012 Edit
GEN310 PRUNE2 prune homolog 2 9q21.2 Rare Single Gene variant
3
 15 12 Vaags AK , et al. 2012 Edit
GEN329 PSD3 pleckstrin and Sec7 domain containing 3 8p22 Rare Single Gene variant
2
 11 7 Pinto D , et al. 2010 Edit
GEN202 PSMD10 proteasome (prosome, macropain) 26S subunit, non-ATPase, 10 Xq22.3 Rare Single Gene variant
2
 2 7 Piton A , et al. 2010 Edit
GEN1372 PSMD11 proteasome 26S subunit, non-ATPase 11 17q11.2 Rare single gene variant
2
 4 2 Zhou X et al. 2022 Edit
GEN867 PSMD12 proteasome 26S subunit, non-ATPase 12 17q24.2 Syndromic
3
 16 5 Kry S , et al. 2017 Edit
GEN1374 PSMD6 proteasome 26S subunit, non-ATPase 6 3p14.1 Rare single gene variant
2
 3 3 Satterstrom FK et al. 2020 Edit
GEN848 PTBP2 polypyrimidine tract binding protein 2 1p21.3 Rare single gene variant
2
 Yes 6 8 Doan RN , et al. 2016 Edit
GEN203 PTCHD1 patched domain containing 1 Xp22.11 Rare Single Gene variant
3
 69 22 Marshall CR , et al. 2008 Edit
GEN1129 PTCHD1-AS PTCHD1antisense RNA (head to head) Xp22.11 Rare single gene variant
3 3 Noor A , et al. 2010 Edit
GEN1307 PTDSS1 phosphatidylserine synthase 1 8q22.1 Syndromic
2
 5 6 Yuen RK , et al. 2015 Edit
GEN204 PTEN phosphatase and tensin homolog (mutated in multiple advanced cancers 1) 10q23.31 Syndromic
5
 177 100 Goffin A , et al. 2001 Edit
GEN540 PTGER3 prostaglandin E receptor 3 1p31.1 Rare single gene variant
2
 Yes 2 2 Nava C , et al. 2013 Edit
GEN205 PTGS2 prostaglandin-endoperoxide synthase 2 1q31.1 Genetic Association
2
 3 8 Yoo HJ , et al. 2008 Edit
GEN769 PTK7 Protein tyrosine kinase 7 (inactive) 6p21.1 Rare single gene variant
3
 9 8 Sanders SJ , et al. 2015 Edit
GEN277 PTPN11 protein tyrosine phosphatase, non-receptor type 11 12q24.13 Syndromic
3
 44 27 Tartaglia M , et al. 2001 Edit
GEN1293 PTPN4 protein tyrosine phosphatase non-receptor type 4 2q14.2 Syndromic
2
 10 5 Chmielewska JJ et al. 2021 Edit
GEN605 PTPRB protein tyrosine phosphatase, receptor type B 12q15 Genetic association
2
 6 6 Wittkowski KM , et al. 2014 Edit
GEN206 PTPRC protein tyrosine phosphatase, receptor type, C 1q31.3-q32.1 Genetic Association
2
 10 11 Pinto D , et al. 2010 Edit
GEN314 PTPRT protein tyrosine phosphatase, receptor type, T 20q12-q13.11 Rare Single Gene variant
2
 13 11 Christian SL , et al. 2008 Edit
GEN734 PVALB Parvalbumin 22q12.3 Functional
0 2 Whr M , et al. 2015 Edit
GEN534 PXDN peroxidasin 2p25.3 Multigenic CNV
2
 12 8 Meyer KJ , et al. 2011 Edit
GEN724 PYHIN1 Pyrin and HIN domain family, member 1 1q23.1 Rare single gene variant
2
 4 4 De Rubeis S , et al. 2014 Edit
GEN919 QRICH1 glutamine rich 1 3p21.31 Rare single gene variant
4
 57 14 De Rubeis S , et al. 2014 Edit
GEN370 RAB11FIP5 RAB11 family interacting protein 5 2p13.2 Rare single gene variant
2
 5 6 Roohi J , et al. 2008 Edit
GEN511 RAB19 RAB19, member RAS oncogene family 7q34 Rare single gene variant
2
 3 3 Schluth-Bolard C , et al. 2013 Edit
GEN807 RAB2A RAB2A, member RAS oncogene family 8q12.1-q12.2 Rare single gene variant
2
 5 8 Sanders SJ , et al. 2012 Edit
GEN207 RAB39B RAB39B, member RAS oncogene family Xq28 Rare Single Gene variant
3
 17 19 Giannandrea M , et al. 2010 Edit
GEN725 RAB43 RAB43, member RAS oncogene family 3q21.3 Rare single gene variant
2
 2 2 Krumm N , et al. 2015 Edit
GEN984 RAC1 Rac family small GTPase 1 7p22.1 Functional
2
 18 10 Duffney LJ , et al. 2015 Edit
GEN1025 RAD21 RAD21cohesin complex component 8q24.11 Syndromic
0
 3 7 Deardorff MA , et al. 2012 Edit
GEN951 RAD21L1 RAD21 cohesin complex component like 1 20p13 Rare single gene variant
2
 4 3 Iossifov I , et al. 2012 Edit
GEN208 RAI1 retinoic acid induced 1 17p11.2 Syndromic
4
 32 36 Nakamine A , et al. 2007 Edit
GEN1075 RALA RAS like proto-oncogene A 7p14.1 Rare single gene variant
3
 15 6 Hiatt SM , et al. 2018 Edit
GEN1054 RALGAPB Ral GTPase activating protein non-catalytic beta subunit 20q11.23 Rare single gene variant
4
 16 6 De Rubeis S , et al. 2014 Edit
GEN760 RANBP17 RAN binding protein 17 5q35.1 Rare single gene variant
3
 11 9 Sanders SJ , et al. 2015 Edit
GEN209 RAPGEF4 Rap guanine nucleotide exchange factor (GEF) 4 2q31.1 Rare Single Gene variant, Genetic Association
3
 10 18 Bacchelli E , et al. 2003 Edit
GEN560 RASD1 ras related dexamethasone induced 1 17p11.2 Functional
0 1 Lacaria M , et al. 2013 Edit
GEN394 RASSF5 Ras association domain family member 5 1q32.1 Genetic association
2
 4 4 Anney R , et al. 2012 Edit
GEN210 RB1CC1 RB1-inducible coiled-coil 1 8q11.23 Rare Single Gene variant
3
 11 7 Marshall CR , et al. 2008 Edit
GEN1358 RBBP5 RB binding protein 5, histone lysine methyltransferase complex subunit 1q32.1 Functional
2
 4 5 Zhou X et al. 2022 Edit
GEN001 RBFOX1 RNA binding protein, fox-1 homolog (C. elegans) 1 16p13.3 Genetic Association
2
 86 44 Sebat J , et al. 2007 Edit
GEN1276 RBL2 RB transcriptional corepressor like 2 16q12.2 Syndromic
3
 9 5 Wilfert AB et al. 2021 Edit
GEN726 RBM27 RNA binding motif protein 27 5q32 Rare single gene variant
2
 4 4 Krumm N , et al. 2015 Edit
GEN519 RBM8A RNA binding motif protein 8A 1q21.1 Multigenic CNV
2
 2 6 Nguyen LS , et al. 2013 Edit
GEN211 RBMS3 RNA binding motif, single stranded interacting protein 3 3p24.1 Rare Single Gene variant
2
 2 3 O'Roak BJ , et al. 2011 Edit
GEN212 REEP3 receptor accessory protein 3 10q21.3 Rare single gene variant
1 3 Castermans D , et al. 2007 Edit
GEN213 RELN Reelin 7q22.1 Genetic Association
4
 239 65 Persico AM , et al. 2001 Edit
GEN491 RERE Arginine-glutamic acid dipeptide (RE) repeats 1p36.23 Rare single gene variant
4
 38 17 Prasad A , et al. 2013 Edit
GEN940 RFX3 regulatory factor X3 9p24.2 Rare single gene variant
4
 31 11 De Rubeis S , et al. 2014 Edit
GEN1235 RFX4 regulatory factor X4 12q23.3 Rare single gene variant
2
 Yes 5 2 Harris HK et al. 2021 Edit
GEN1236 RFX7 regulatory factor X7 15q21.3 Rare single gene variant
4
 21 4 De Rubeis S , et al. 2014 Edit
GEN215 RGS7 regulator of G-protein signaling 7 1q43 Rare Single Gene variant
Yes 6 6 Pinto D , et al. 2010 Edit
GEN983 RHEB Ras homolog, mTORC1 binding 7q36.1 Syndromic
0
 3 3 Reijnders MRF , et al. 2017 Edit
GEN216 RHOXF1 Rhox homeobox family, member 1 Xq24 Genetic Association
2 3 Wang K , et al. 2009 Edit
GEN1266 RIF1 replication timing regulatory factor 1 2q23.3 Rare single gene variant
3
 13 3 Wilfert AB et al. 2021 Edit
GEN637 RIMS1 Regulating synaptic membrane exocytosis 1 6q13 Rare single gene variant
3
 17 11 Dong S , et al. 2014 Edit
GEN1180 RIMS2 regulating synaptic membrane exocytosis 2 8q22.3 Genetic association
3
 14 6 Mechaussier S et al. 2020 Edit
GEN217 RIMS3 regulating synaptic membrane exocytosis 3 1p34.2 Rare single gene variant
3
 7 4 Kumar RA , et al. 2009 Edit
GEN815 RIT2 Ras-like without CAAX 2 18q12.3 Genetic association
6 3 Liu X , et al. 2015 Edit
GEN708 RLIM Ring finger protein, LIM domain interacting Xq13.2 Rare single gene variant
2
 19 6 Tnne E , et al. 2015 Edit
GEN774 RNF135 Ring finger protein 135 17q11.2 Syndromic
0
 11 5 Tastet J , et al. 2015 Edit
GEN1122 RNF25 ring finger protein 25 2q35 Rare single gene variant
2
 3 3 Iossifov I et al. 2014 Edit
GEN960 RNF38 ring finger protein 38 9p13.2 Rare single gene variant
2
 2 2 Sanders SJ , et al. 2012 Edit
GEN486 RNF8 ring finger protein 8 6p21.2 Rare Single Gene variant
Yes 1 2 Morrow EM , et al. 2008 Edit
GEN521 RNPS1 RNA binding protein with serine rich domain 1 16p13.3 Multigenic CNV
1 1 Nguyen LS , et al. 2013 Edit
GEN218 ROBO1 roundabout, axon guidance receptor, homolog 1 (Drosophila) 3p12.3 Functional
3
 15 15 Hu VW , et al. 2006 Edit
GEN493 ROBO2 roundabout guidance receptor 2 3p12.3 Functional
2
 11 10 Prasad A , et al. 2013 Edit
GEN219 RORA RAR-related orphan receptor A 15q22.2 Functional
4
 27 25 Nguyen A , et al. 2010 Edit
GEN1138 RORB RAR related orphan receptor B 9q21.13 Functional
4
 56 15 Iossifov I et al. 2014 Edit
GEN936 RP11-1407O15.2 Rare single gene variant
2
 2 1 Lim ET , et al. 2017 Edit
GEN1407 RPH3A rabphilin 3A 12q24.13 Rare single gene variant
3
 13 7 Pavinato L et al. 2023 Edit
GEN220 RPL10 ribosomal protein L10 Xq28 Rare single gene variant
3
 10 14 Klauck SM , et al. 2006 Edit
GEN375 RPP25 ribonuclease P and MRP subunit p25 15q24.2 Functional
0
 1 2 Huang HS , et al. 2010 Edit
GEN1131 RPS10P2-AS1 ribosomal protein S10 pseudogene 2 anti-sense 1 20p12.1 Genetic association
3 4 Anney R , et al. 2010 Edit
GEN221 RPS6KA2 ribosomal protein S6 kinase, 90kDa, polypeptide 2 6q27 Rare Single Gene variant
2
 4 5 Marshall CR , et al. 2008 Edit
GEN591 RPS6KA3 Ribosomal protein S6 kinase, 90kDa, polypeptide 3 Xp22.12 Syndromic
3
 17 19 O'Roak BJ , et al. 2012 Edit
GEN1173 RSRC1 arginine and serine rich coiled-coil 1 3q25.32 Syndromic
Yes 13 7 Perez Y et al. 2018 Edit
GEN1381 RUNX1T1 RUNX1 partner transcriptional co-repressor 1 8q21.3 Rare single gene variant
3
 3 3 Satterstrom FK et al. 2020 Edit
GEN1265 RUSC2 RUN and SH3 domain containing 2 9p13.3 Rare single gene variant
3
 18 5 Wilfert AB et al. 2021 Edit
GEN1419 SACS sacsin molecular chaperone 13q12.12 Rare single gene variant
3
 10 7 et al. Edit
GEN503 SAE1 SUMO1 activating enzyme subunit 1 19q13.32 Rare single gene variant
0
 7 4 Prasad A , et al. 2013 Edit
GEN1050 SAMD11 sterile alpha motif domain containing 11 1p36.33 Rare single gene variant
2
 11 4 Chapman NH , et al. 2015 Edit
GEN931 SASH1 SAM and SH3 domain containing 1 6q24.3-q25.1 Rare single gene variant
3
 7 4 Iossifov I et al. 2014 Edit
GEN1160 SATB1 SATB homeobox 1 3p24.3 Rare single gene variant
4
 40 4 Satterstrom FK et al. 2020 Edit
GEN346 SATB2 SATB homeobox 2 2q33.1 Syndromic
4
 228 45 Talkowski ME , et al. 2012 Edit
GEN473 SBF1 SET binding factor 1 22q13.33 Rare Single Gene variant
3
 12 11 O'Roak BJ , et al. 2012 Edit
GEN1349 SCAF1 SR-related CTD associated factor 1 19q13.33 Rare single gene variant
3
 26 4 Zhou X et al. 2022 Edit
GEN1203 SCAF4 SR-related CTD associated factor 4 21q22.11 Rare single gene variant
3
 18 6 Fliedner A et al. 2020 Edit
GEN222 SCFD2 sec1 family domain containing 2 4q12 Rare Single Gene variant
0
 6 4 Pinto D , et al. 2010 Edit
GEN1384 SCGN secretagogin, EF-hand calcium binding protein 6p22.2 Functional
2
 3 4 Liu Z et al. 2023 Edit
GEN1263 SCN10A sodium voltage-gated channel alpha subunit 10 3p22.2 Rare single gene variant
2
 Yes 29 8 Kambouris M et al. 2016 Edit
GEN223 SCN1A sodium channel, voltage-gated, type I, alpha subunit 2q24.3 Rare Single Gene variant
4
 269 99 Weiss LA , et al. 2003 Edit
GEN224 SCN2A sodium channel, voltage-gated, type II, alpha subunit 2q24.3 Rare Single Gene variant
5
 426 126 Weiss LA , et al. 2003 Edit
GEN739 SCN4A Sodium channel, voltage gated, type IV alpha subunit 17q23.3 Rare single gene variant
2
 7 6 Iossifov I et al. 2014 Edit
GEN695 SCN5A sodium voltage-gated channel alpha subunit 5 3p22.2 Rare single gene variant
2
 8 5 Li J , et al. 2015 Edit
GEN485 SCN7A sodium voltage-gated channel alpha subunit 7 2q24.3 Rare Single Gene variant
3
 Yes 10 7 Morrow EM , et al. 2008 Edit
GEN327 SCN8A sodium channel, voltage gated, type VIII, alpha subunit 12q13.13 Rare single gene variant
4
 226 61 Veeramah KR , et al. 2012 Edit
GEN861 SCN9A sodium voltage-gated channel alpha subunit 9 2q24.3 Rare single gene variant
3
 36 10 Rubinstein M , et al. 2016 Edit
GEN954 SCP2 sterol carrier protein 2 1p32.3 Rare single gene variant
2
 5 3 Sanders SJ , et al. 2012 Edit
GEN225 SDC2 syndecan 2 (heparan sulfate proteoglycan 1, cell surface-associated, fibroglycan ) 8q22.1 Genetic association
2 4 Ishikawa-Brush Y , et al. 1997 Edit
GEN459 SDK1 sidekick cell adhesion molecule 1 7p22.2 Genetic association
3
 18 10 Connolly JJ , et al. 2012 Edit
GEN1077 SEMA3F semaphorin 3F 3p21.31 Functional
2
 5 4 Li Z , et al. 2019 Edit
GEN226 SEMA5A sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A 5p15.31 Functional
3
 17 20 Melin M , et al. 2006 Edit
GEN1296 SENP1 SUMO specific peptidase 1 12q13.11 Rare single gene variant
2
 3 3 Yang K et al. 2021 Edit
GEN1430 SENP6 SUMO specific peptidase 6 6q14.1 Rare single gene variant
3
 3 4 et al. Edit
GEN372 SERPINE1 serpin family E member 1 7q22.1 Genetic association
1 2 Campbell DB , et al. 2009 Edit
GEN1057 SET SETnuclear proto-oncogene 9q34.11 Rare single gene variant
3
 12 6 C Yuen RK et al. 2017 Edit
GEN640 SETBP1 SET binding protein 1 18q12.3 Rare single gene variant
4
 99 32 O'Roak BJ , et al. 2012 Edit
GEN1176 SETD1A SET domain containing 1A, histone lysine methyltransferase 16p11.2 Rare single gene variant
3
 31 11 C Yuen RK et al. 2017 Edit
GEN994 SETD1B SET domain containing 1B 12q24.31 Syndromic
4
 60 20 Iossifov I et al. 2014 Edit
GEN474 SETD2 SET domain containing 2 3p21.31 Rare Single Gene variant
4
 84 26 O'Roak BJ , et al. 2012 Edit
GEN607 SETD5 SET domain containing 5 3p25.3 Rare Single Gene variant
4
 141 40 Grozeva D , et al. 2014 Edit
GEN460 SETDB1 SET domain, bifurcated 1 1q21.3 Rare single gene variant
3
 16 5 Cukier HN , et al. 2012 Edit
GEN461 SETDB2 SET domain, bifurcated 2 13q14.2 Syndromic
3
 11 3 Cukier HN , et al. 2012 Edit
GEN227 SEZ6L2 SEZ6L2 seizure related 6 homolog (mouse)-like 2 16p11.2 Rare Single Gene variant
2
 11 7 Kumar RA , et al. 2009 Edit
GEN1071 SF3B1 splicing factor 3b subunit 1 2q33.1 Rare single gene variant
3
 10 6 De Rubeis S , et al. 2014 Edit
GEN601 SGSH N-sulfoglucosamine sulfohydrolase 17q25.3 Syndromic
0
 8 8 Rumsey RK , et al. 2014 Edit
GEN475 SGSM3 Small G protein signaling modulator 3 22q13.1 Rare Single Gene variant
2
 17 8 O'Roak BJ , et al. 2012 Edit
GEN228 SH3KBP1 SH3-domain kinase binding protein 1 Xp22.12 Rare Single Gene variant
2
 3 5 Piton A , et al. 2010 Edit
GEN1315 SH3RF1 SH3 domain containing ring finger 1 4q32.3-q33 Rare single gene variant
3
 21 5 Satterstrom FK et al. 2020 Edit
GEN1076 SH3RF2 SH3 domain containing ring finger 2 5q32 Functional
2
 6 5 Wang S , et al. 2018 Edit
GEN1125 SH3RF3 SH3 domain containing ring finger 3 2q13 Rare single gene variant
2
 3 3 Iossifov I et al. 2014 Edit
GEN340 SHANK1 SH3 and multiple ankyrin repeat domains 1 19q13.33 Rare Single Gene variant
4
 60 16 Sato D , et al. 2012 Edit
GEN229 SHANK2 SH3 and multiple ankyrin repeat domains 2 11q13.3-q13.4 Rare Single Gene variant
4
 144 54 Berkel S , et al. 2010 Edit
GEN230 SHANK3 SH3 and multiple ankyrin repeat domains 3 22q13.33 Rare Single Gene variant
5
 422 154 Durand CM , et al. 2006 Edit
GEN821 SHOX short stature homeobox Yp11.2 Rare single gene variant
2
 28 3 Tropeano M , et al. 2016 Edit
GEN712 SIK1 Salt-inducible kinase 1 21q22.3 Rare single gene variant
2
 10 8 Hansen J , et al. 2015 Edit
GEN837 SIN3A SIN3 transcription regulator family member A 15q24.2 Rare single gene variant
4
 77 17 Witteveen JS , et al. 2016 Edit
GEN1242 SIN3B SIN3 transcription regulator family member B 19p13.11 Rare single gene variant
3
 15 6 Iossifov I et al. 2014 Edit
GEN1281 SIPA1L1 signal induced proliferation associated 1 like 1 14q24.2 Rare single gene variant
3
 8 5 Wilfert AB et al. 2021 Edit
GEN1153 SKI SKIproto-oncogene 1p36.33-p36.32 Rare single gene variant
4
 10 7 De Rubeis S , et al. 2014 Edit
GEN783 SLC12A5 Solute carrier family 12 (potassium/chloride transporter), member 5 20q13.12 Rare single gene variant
3
 18 9 Merner ND , et al. 2015 Edit
GEN1085 SLC13A4 solute carrier family 13 member 4 7q33 Functional
2
 4 3 Zhang Z , et al. 2019 Edit
GEN331 SLC16A3 solute carrier family 16, member 3 (monocarboxylic acid transporter 4) 17q25.3 Rare Single Gene variant
2
 5 3 Pinto D , et al. 2010 Edit
GEN462 SLC16A7 Solute carrier family 16, member 7 (monocarboxylic acid transporter 2) 12q14.1 Rare single gene variant
2
 4 4 Winiowiecka-Kowalnik B , et al. 2012 Edit
GEN231 SLC1A1 solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1 9p24.2 Genetic association
2
 Yes 15 14 Brune CW , et al. 2009 Edit
GEN706 SLC1A2 Solute carrier family 1 (glial high affinity glutamate transporter), member 2 11p13 Multigenic CNV
2
 26 10 Aida T , et al. 2015 Edit
GEN393 SLC22A15 Solute carrier family 22, member 15 1p13.1 Genetic association
1 1 Anney R , et al. 2012 Edit
GEN1052 SLC22A3 solute carrier family 22 member 3 6q25.3 Functional
0
 1 4 Garbarino VR , et al. 2018 Edit
GEN809 SLC22A9 solute carrier family 22 member 9 11q12.3 Rare single gene variant
2
 6 6 Sanders SJ , et al. 2012 Edit
GEN1331 SLC23A1 solute carrier family 23 member 1 5q31.2 Rare single gene variant
2
 7 5 Iossifov I et al. 2014 Edit
GEN506 SLC24A2 solute carrier family 24 member 2 9p22.1 Rare single gene variant
2
 3 4 Prasad A , et al. 2013 Edit
GEN232 SLC25A12 solute carrier family 25 (mitochondrial carrier, Aralar), member 12 2q31.1 Genetic Association
0
 20 26 Ramoz N , et al. 2004 Edit
GEN463 SLC25A14 Solute carrier family 25 (mitochondrial carrier, brain), member 14 Xq26.1 Functional
2
 2 3 Anitha A , et al. 2012 Edit
GEN464 SLC25A24 Solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 24 1p13.3 Functional
2
 5 4 Anitha A , et al. 2012 Edit
GEN465 SLC25A27 solute carrier family 25 member 27 6p12.3 Genetic association/functional
1 1 Anitha A , et al. 2012 Edit
GEN952 SLC25A39 solute carrier family 25 member 39 17q21.31 Rare single gene variant
2
 12 3 Iossifov I , et al. 2012 Edit
GEN784 SLC27A4 Solute carrier family 27 (fatty acid transporter), member 4 9q34.11 Rare single gene variant, genetic association
2
 5 3 Maekawa M , et al. 2015 Edit
GEN622 SLC29A4 solute carrier family 29 member 4 7p22.1 Rare single gene variant
2
 5 2 Adamsen D , et al. 2014 Edit
GEN835 SLC30A3 solute carrier family 30 member 3 2p23.3 Functional
0 2 Yoo MH , et al. 2016 Edit
GEN233 SLC30A5 solute carrier family 30 5q13.1-q13.2 Rare Single Gene variant
2
 3 5 O'Roak BJ , et al. 2011 Edit
GEN832 SLC33A1 solute carrier family 33 member 1 3q25.31 Functional
0 4 Hullinger R , et al. 2016 Edit
GEN575 SLC35A3 solute carrier family 35 member A3 1p21.2 Rare single gene variant
2
 Yes 3 3 Edvardson S , et al. 2013 Edit
GEN908 SLC35B1 solute carrier family 35 member B1 17q21.33 Genetic association
2 1 Cantor RM , et al. 2017 Edit
GEN1406 SLC35G1 solute carrier family 35 member G1 10q23.33 Rare single gene variant
2
 5 4 Wang J et al. 2023 Edit
GEN270 SLC38A10 solute carrier family 38, member 10 17q25.3 Rare Single Gene variant
2
 5 3 Celestino-Soper PB , et al. 2011 Edit
GEN402 SLC39A11 solute carrier family 39 member 11 17q24.3-q25.1 Genetic association
2
 2 2 Anney R , et al. 2012 Edit
GEN905 SLC45A1 solute carrier family 45 member 1 1p36.23 Rare single gene variant
2
 Yes 8 6 Srour M , et al. 2017 Edit
GEN234 SLC4A10 solute carrier family 4, sodium bicarbonate transporter-like, member 10 2q24.2 Genetic Association
3
 U 23 10 Sebat J , et al. 2007 Edit
GEN714 SLC6A1 Solute carrier family 6 (neurotransmitter transporter), member 1 3p25.3 Rare single gene variant
5
 169 55 Sanders SJ , et al. 2012 Edit
GEN568 SLC6A3 Solute carrier family 6 (neurotransmitter transporter), member 3 5p15.33 Rare single gene variant
3
 14 16 Hamilton PJ , et al. 2013 Edit
GEN235 SLC6A4 solute carrier family 6 (neurotransmitter transporter, serotonin), member 4 17q11.2 Genetic Association
2
 51 31 Cook EH Jr , et al. 1997 Edit
GEN236 SLC6A8 solute carrier family 6 (neurotransmitter transporter, creatine), member 8 Xq28 Rare Single Gene variant
3
 28 25 Po-Argelles P , et al. 2006 Edit
GEN744 SLC7A3 Solute carrier family 7 (cationic amino acid transporter, y+ system), member 3 Xq13.1 Rare single gene variant
2
 4 2 Nava C , et al. 2015 Edit
GEN860 SLC7A5 solute carrier family 7 member 5 16q24.2 Functional/syndromic
2
 Yes 10 6 Tafrlungeanu DC , et al. 2016 Edit
GEN957 SLC7A7 solute carrier family 7 member 7 14q11.2 Rare single gene variant
2
 7 6 O'Roak BJ , et al. 2012 Edit
GEN237 SLC9A6 solute carrier family 9 (sodium/hydrogen exchanger), member 6 Xq26.3 Syndromic
2
 36 22 Garbern JY , et al. 2010 Edit
GEN238 SLC9A9 solute carrier family 9 (sodium/hydrogen exchanger), member 9 3q24 Rare Single Gene variant
3
 23 17 Morrow EM , et al. 2008 Edit
GEN704 SLCO1B3 Solute carrier organic anion transporter family, member 1B3 12p12.2 Rare single gene variant
3
 21 6 De Rubeis S , et al. 2014 Edit
GEN1413 SLFN5 schlafen family member 5 17q12 Rare single gene variant
2
 9 4 Cirnigliaro M et al. 2023 Edit
GEN597 SLIT3 slit guidance ligand 3 5q34-q35.1 Multigenic CNV
2
 8 5 Cukier HN , et al. 2014 Edit
GEN1339 SLITRK2 SLIT and NTRK like family member 2 Xq27.3 Rare single gene variant
3
 16 8 El Chehadeh S et al. 2022 Edit
GEN558 SLITRK5 SLIT and NTRK like family member 5 13q31.2 Functional
3
 12 10 Shmelkov SV , et al. 2010 Edit
GEN916 SMAD4 SMAD family member 4 18q21.2 Rare single gene variant
3
 14 11 Iossifov I et al. 2014 Edit
GEN731 SMARCA2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 9p24.3 Genetic association/functional
3
 45 29 Wolff D , et al. 2012 Edit
GEN923 SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 19p13.2 Syndromic
4
 59 23 De Rubeis S , et al. 2014 Edit
GEN1282 SMARCC1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 1 3p21.31 Rare single gene variant
2
 7 4 Wilfert AB et al. 2021 Edit
GEN732 SMARCC2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2 12q13.2 Functional
4
 88 19 Neale BM , et al. 2012 Edit
GEN913 SMC1A structural maintenance of chromosomes 1A Xp11.22 Syndromic
2
 34 18 Huisman S , et al. 2017 Edit
GEN877 SMC3 structural maintenance of chromosomes 3 10q25.2 Syndromic
3
 28 14 Iossifov I et al. 2014 Edit
GEN520 SMG6 SMG6, nonsense mediated mRNA decay factor 17p13.3 Multigenic CNV
3
 9 4 Nguyen LS , et al. 2013 Edit
GEN1103 SMURF1 SMAD specific E3 ubiquitin protein ligase 1 7q22.1 Rare single gene variant
2
 2 2 De Rubeis S , et al. 2014 Edit
GEN701 SNAP25 Synaptosomal-associated protein, 25kDa 20p12.2 Genetic association
0
 10 10 Braida D , et al. 2015 Edit
GEN1414 SNCAIP synuclein alpha interacting protein 5q23.2 Rare single gene variant
2
 5 3 Cirnigliaro M et al. 2023 Edit
GEN239 SND1 staphylococcal nuclease and tudor domain containing 1 7q32.1 Genetic Association
2
 4 10 Holt R , et al. 2010 Edit
GEN343 SNRPN small nuclear ribonucleoprotein polypeptide N 15q11.2 Rare Single Gene variant
6 5 Talkowski ME , et al. 2012 Edit
GEN360 SNTG2 syntrophin gamma 2 2p25.3 Rare single gene variant
2
 6 7 Rosenfeld JA , et al. 2010 Edit
GEN717 SNX14 Sorting nexin 14 6q14.3 Syndromic
2
 27 10 Akizu N , et al. 2015 Edit
GEN466 SNX19 sorting nexin 19 11q24.3-q25 Rare single gene variant
0
 3 3 Winiowiecka-Kowalnik B , et al. 2012 Edit
GEN1064 SNX5 sorting nexin 5 20p11.23 Rare single gene variant
2
 4 5 Iossifov I et al. 2014 Edit
GEN604 SOD1 superoxide dismutase 1 21q22.11 Functional
2
 3 3 Kova J , et al. 2013 Edit
GEN1139 SON SONDNA binding protein 21q22.11 Rare single gene variant
4
 85 24 Iossifov I et al. 2014 Edit
GEN1192 SORCS3 sortilin related VPS10 domain containing receptor 3 10q25.1 Rare single gene variant
0
 6 6 Wu Y et al. 2020 Edit
GEN1283 SOS2 SOS Ras/Rho guanine nucleotide exchange factor 2 14q21.3 Syndromic
2
 5 6 Wilfert AB et al. 2021 Edit
GEN366 SOX5 SRY-box 5 12p12.1 Rare single gene variant
4
 80 22 Rosenfeld JA , et al. 2010 Edit
GEN1178 SOX6 SRY-box transcription factor 6 11p15.2 Syndromic
2
 19 3 Tolchin D et al. 2020 Edit
GEN793 SPARCL1 SPARC like 1 4q22.1 Functional
2
 15 5 De Rubeis S , et al. 2014 Edit
GEN348 SPAST Spastin 2p22.3 Rare Single Gene variant
3
 16 17 Talkowski ME , et al. 2012 Edit
GEN1061 SPEN spenfamily transcriptional repressor 1p36.21-p36.13 Rare single gene variant
5
 97 16 Iossifov I et al. 2014 Edit
GEN947 SPP2 secreted phosphoprotein 2 2q37.1 Rare single gene variant
2
 5 4 Neale BM , et al. 2012 Edit
GEN1356 SPRY2 sprouty RTK signaling antagonist 2 13q31.1 Functional
3
 3 3 Zhou X et al. 2022 Edit
GEN1244 SPTBN1 spectrin beta, non-erythrocytic 1 2p16.2 Rare single gene variant
4
 55 11 Iossifov I et al. 2014 Edit
GEN871 SRCAP Snf2 related CREBBP activator protein 16p11.2 Rare single gene variant
5
 65 14 Iossifov I et al. 2014 Edit
GEN556 SRD5A2 steroid 5 alpha-reductase 2 2p23.1 Genetic association
2
 3 4 Zettergren A , et al. 2013 Edit
GEN879 SRGAP3 SLIT-ROBO Rho GTPase activating protein 3 3p25.3 Rare single gene variant
3
 8 6 Iossifov I et al. 2014 Edit
GEN1147 SRPRA SRP receptor subunit alpha 11q24.2 Rare single gene variant
3
 6 3 Iossifov I et al. 2014 Edit
GEN1338 SRRM2 serine/arginine repetitive matrix 2 16p13.3 Rare single gene variant
4
 41 13 De Rubeis S , et al. 2014 Edit
GEN671 SRRM4 Serine/arginine repetitive matrix 4 12q24.23 Functional
2
 3 7 Irimia M , et al. 2014 Edit
GEN1395 SRSF1 serine and arginine rich splicing factor 1 17q22 Rare single gene variant
2
 19 4 Bogaert E et al. 2023 Edit
GEN886 SRSF11 serine and arginine rich splicing factor 11 1p31.1 Rare single gene variant
2
 7 6 De Rubeis S , et al. 2014 Edit
GEN740 SSPOP SCO-spondin, pseudogene 7q36.1 Rare single gene variant
2
 13 7 Krumm N , et al. 2015 Edit
GEN977 SSRP1 structure specific recognition protein 1 11q12.1 Rare single gene variant
2
 3 3 Iossifov I et al. 2014 Edit
GEN240 ST7 suppression of tumorigenicity 7 7q31.2 Rare Single Gene variant
2
 5 4 Vincent JB , et al. 2000 Edit
GEN420 ST8SIA2 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2 15q26.1 Genetic association
2
 13 12 Anney R , et al. 2010 Edit
GEN863 STAG1 stromal antigen 1 3q22.3 Syndromic
3
 25 10 Lehalle D , et al. 2017 Edit
GEN842 STAT1 signal transducer and activator of transcription 1 2q32.2 Rare single gene variant
2
 2 3 Filiano AJ , et al. 2016 Edit
GEN241 STK39 serine threonine kinase 39 (STE20/SPS1 homolog, yeast) 2q24.3 Genetic Association
3 5 Ramoz N , et al. 2008 Edit
GEN600 STX1A Syntaxin 1A (brain) 7q11.23 Genetic association
2
 15 7 Nakamura K , et al. 2008 Edit
GEN390 STXBP1 Syntaxin binding protein 1 9q34.11 Syndromic
5
 323 75 Campbell IM , et al. 2012 Edit
GEN598 STXBP5 Syntaxin binding protein 5 (tomosyn) 6q24.3 Rare single gene variant
3
 20 7 Cukier HN , et al. 2014 Edit
GEN778 STYK1 Serine/threonine/tyrosine kinase 1 12p13.2 Genetic association
2
 7 4 Kuo PH , et al. 2015 Edit
GEN242 SUCLG2 succinate-CoA ligase, GDP-forming, beta subunit 3p14.1 Rare Single Gene variant
2
 6 6 Bucan M , et al. 2009 Edit
GEN1145 SUPT16H SPT16 homolog, facilitates chromatin remodeling subunit 14q11.2 Rare single gene variant
2
 9 8 Iossifov I et al. 2014 Edit
GEN504 SYAP1 Synapse associated protein 1 Xp22.2 Rare single gene variant
3 2 Prasad A , et al. 2013 Edit
GEN1175 SYBU syntabulin 8q23.2 Rare single gene variant/Functional
2
 1 1 Xiong GJ et al. 2020 Edit
GEN1213 SYCE1 synaptonemal complex central element protein 1 10q26.3 Rare single gene variant
2
 7 3 Luo Y et al. 2020 Edit
GEN243 SYN1 Synapsin 1 Xp11.3-p11.23 Rare Single Gene variant
4
 42 28 Fassio A , et al. 2011 Edit
GEN563 SYN2 Synapsin II 3p25.2 Genetic association
2
 5 7 Corradi A , et al. 2013 Edit
GEN564 SYN3 Synapsin III 22q12.3 Functional
2
 6 5 Greco B , et al. 2013 Edit
GEN1053 SYNCRIP synaptotagmin binding cytoplasmic RNA interacting protein 6q14.3 Rare single gene variant
4
 33 10 Krumm N , et al. 2015 Edit
GEN244 SYNE1 spectrin repeat containing, nuclear envelope 1 6q25.2 Rare Single Gene variant
3
 46 23 O'Roak BJ , et al. 2011 Edit
GEN245 SYNGAP1 synaptic Ras GTPase activating protein 1 6p21.32 Rare Single Gene variant
5
 238 101 Hamdan FF , et al. 2011 Edit
GEN929 SYNJ1 synaptojanin 1 21q22.11 Rare single gene variant
2
 7 3 Lim ET , et al. 2017 Edit
GEN1184 SYP synaptophysin Xp11.23 Rare single gene variant
2
 3 4 Satterstrom FK et al. 2020 Edit
GEN1034 SYT1 synaptotagmin 1 12q21.2 Rare single gene variant
3
 34 11 De Rubeis S , et al. 2014 Edit
GEN246 SYT17 synaptotagmin XVII 16p12.3 Genetic Association
2 2 Wang K , et al. 2009 Edit
GEN341 SYT3 synaptotagmin 3 19q13.33 Rare Single Gene variant
2
 4 3 Sato D , et al. 2012 Edit
GEN792 TAF1 TATA-box binding protein associated factor 1 Xq13.1 Rare single gene variant
3
 66 17 O'Rawe JA , et al. 2015 Edit
GEN392 TAF1C TATA-box binding protein associated factor, RNA polymerase I subunit C 16q24.1 Genetic association
2
 3 3 Anney R , et al. 2012 Edit
GEN247 TAF1L TAF1 RNA polymerase II 9p21.1 Rare Single Gene variant
2
 9 6 O'Roak BJ , et al. 2011 Edit
GEN1353 TAF4 TATA-box binding protein associated factor 4 20q13.33 Rare single gene variant
4
 17 5 Zhou X et al. 2022 Edit
GEN1277 TAF5 TATA-box binding protein associated factor 5 10q24.33 Rare single gene variant
2
 7 3 Wilfert AB et al. 2021 Edit
GEN893 TAF6 TATA-box binding protein associated factor 6 7q22.1 Rare single gene variant
3
 12 7 Iossifov I et al. 2014 Edit
GEN995 TAFA2 TAFA chemokine like family member 2 12q14.1 Functional/multigenic CNV
4 1 Choi JH , et al. 2018 Edit
GEN992 TAFA3 TAFA chemokine like family member 3 1p13.2 Multigenic CNV
1 2 Kim S , et al. 2017 Edit
GEN878 TANC2 etratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 17q23.2-q23.3 Rare single gene variant
4
 42 16 Iossifov I et al. 2014 Edit
GEN1140 TAOK1 TAO kinase 1 17q11.2 Rare single gene variant
4
 55 13 De Rubeis S , et al. 2014 Edit
GEN1006 TAOK2 TAO kinase 2 16p11.2 Rare single gene variant
4
 25 8 C Yuen RK et al. 2017 Edit
GEN980 TBC1D23 TBC1 domain family member 23 3q12.1-q12.2 Syndromic
2
 11 6 Marin-Valencia I , et al. 2017 Edit
GEN727 TBC1D31 TBC1 domain family, member 31 8q24.13 Rare single gene variant
3
 7 7 Iossifov I et al. 2014 Edit
GEN248 TBC1D5 TBC1 domain family, member 5 3p24.3 Rare Single Gene variant
2
 8 10 Pinto D , et al. 2010 Edit
GEN543 TBC1D7 TBC1 domain family member 7 6p24.1 Functional
3 5 Dibble CC , et al. 2012 Edit
GEN1371 TBCEL tubulin folding cofactor E like 11q23.3 Rare single gene variant
3
 3 3 Satterstrom FK et al. 2020 Edit
GEN1141 TBCK TBC1 domain containing kinase 4q24 Syndromic
2
 19 5 Bhoj EJ , et al. 2016 Edit
GEN301 TBL1X transducin (beta)-like 1X-linked Xp22.31-p22.2 Genetic Association
3 1 Chung RH , et al. 2011 Edit
GEN476 TBL1XR1 transducin beta like 1 X-linked receptor 1 3q26.32 Rare Single Gene variant
4
 51 34 O'Roak BJ , et al. 2012 Edit
GEN477 TBR1 T-box, brain, 1 2q24.2 Rare Single Gene variant
5
 80 43 O'Roak BJ , et al. 2012 Edit
GEN286 TBX1 T-box 1 22q11.21 Syndromic
2
 4 7 Paylor R , et al. 2006 Edit
GEN1181 TBX22 T-box transcription factor 22 Xq21.1 Rare single gene variant
2
 3 2 Iossifov I et al. 2014 Edit
GEN1367 TCEAL1 transcription elongation factor A like 1 Xq22.2 Syndromic
2
 13 4 Hijazi H et al. 2022 Edit
GEN633 TCF20 Transcription factor 20 (AR1) 22q13.2 Rare single gene variant
5
 101 27 Babbs C , et al. 2014 Edit
GEN592 TCF4 Transcription factor 4 18q21.2 Syndromic
4
 79 73 Van Balkom ID , et al. 2012 Edit
GEN652 TCF7L2 Transcription factor 7-like 2 (T-cell specific, HMG-box) 10q25.2-q25.3 Rare single gene variant
4
 37 13 Iossifov I et al. 2014 Edit
GEN249 TDO2 tryptophan 2,3-dioxygenase 4q32.1 Genetic Association
5 4 Nabi R , et al. 2004 Edit
GEN933 TECTA tectorin alpha 11q23.3 Rare single gene variant
3
 12 9 Sanders SJ , et al. 2012 Edit
GEN1168 TEK TEKreceptortyrosine kinase 9p21.2 Rare single gene variant
2
 5 3 Satterstrom FK et al. 2020 Edit
GEN027 TERB2 telomere repeat binding bouquet formation protein 2 15q21.1 Rare Single Gene variant
1 1 Pinto D , et al. 2010 Edit
GEN757 TERF2 Telomeric repeat binding factor 2 16q22.1 Rare single gene variant
3
 7 8 Iossifov I et al. 2014 Edit
GEN823 TERT telomerase reverse transcriptase 5p15.33 Rare single gene variant
2
 2 3 Kim KC , et al. 2015 Edit
GEN728 TET2 Tet methylcytosine dioxygenase 2 4q24 Rare single gene variant
3
 9 7 Iossifov I et al. 2014 Edit
GEN1144 TET3 tet methylcytosine dioxygenase 3 2p13.1 Rare single gene variant
3
 20 7 Beck DB , et al. 2020 Edit
GEN1179 TFB2M transcription factor B2, mitochondrial 1q44 Rare single gene variant
Yes 1 1 Park CB et al. 2018 Edit
GEN1291 TFE3 transcription factor binding to IGHM enhancer 3 Xp11.23 Syndromic
3
 21 5 Villegas F et al. 2019 Edit
GEN1415 TGM1 transglutaminase 1 14q12 Rare single gene variant
3
 24 3 Cirnigliaro M et al. 2023 Edit
GEN250 TGM3 transglutaminase 3 20p13 Rare Single Gene variant
2
 8 9 O'Roak BJ , et al. 2011 Edit
GEN251 TH tyrosine hydroxylase 11p15.5 Genetic Association
2
 8 21 Comings DE , et al. 1995 Edit
GEN696 THAP8 THAP domain containing 8 19q13.12 Rare single gene variant
2
 2 2 Li J , et al. 2015 Edit
GEN638 THBS1 Thrombospondin 1 15q14 Genetic association/rare single gene variant
3
 10 5 Lu L , et al. 2014 Edit
GEN421 THRA thyroid hormone receptor alpha 17q21.1 Functional
2
 3 5 Pilhatsch M , et al. 2010 Edit
GEN1380 TLE3 TLE family member 3, transcriptional corepressor 15q23 Rare single gene variant
3
 5 5 Iossifov I et al. 2014 Edit
GEN252 TLK2 tousled-like kinase 2 17q23.2 Rare Single Gene variant
4
 65 22 O'Roak BJ , et al. 2011 Edit
GEN959 TM4SF19 transmembrane 4 L six family member 19 3q29 Rare single gene variant
2
 3 4 Iossifov I , et al. 2012 Edit
GEN566 TM4SF20 Transmembrane 4 L six family member 20 2q36.3 Rare single gene variant
2
 18 4 Wiszniewski W , et al. 2013 Edit
GEN1152 TM9SF4 transmembrane 9 superfamily member 4 20q11.21 Rare single gene variant
2
 4 5 De Rubeis S , et al. 2014 Edit
GEN1278 TMEM132D transmembrane protein 132D 12q24.33 Genetic association/Functional
2
 6 4 Wilfert AB et al. 2021 Edit
GEN1217 TMEM134 transmembrane protein 134 11q13.2 Rare single gene variant
2
 3 3 Luo Y et al. 2020 Edit
GEN467 TMEM231 transmembrane protein 231 16q23.1 Syndromic
2
 9 5 Srour M , et al. 2012 Edit
GEN1104 TMEM39B transmembrane protein 39B 1p35.2 Rare single gene variant
2
 4 5 De Rubeis S , et al. 2014 Edit
GEN269 TMLHE trimethyllysine hydroxylase, epsilon Xq28 Rare Single Gene variant
3
 14 10 Celestino-Soper PB , et al. 2011 Edit
GEN295 TNIP2 TNFAIP3 interacting protein 2 4p16.3 Rare Single Gene variant
2
 3 2 Salyakina D , et al. 2011 Edit
GEN697 TNN tenascin N 1q25.1 Rare single gene variant
2
 9 6 Li J , et al. 2015 Edit
GEN1262 TNPO2 transportin 2 19p13.13 Rare single gene variant
3
 21 4 Goodman LD et al. 2021 Edit
GEN1355 TNPO3 transportin 3 7q32.1 Rare single gene variant
3
 10 8 Zhou X et al. 2022 Edit
GEN653 TNRC6B Trinucleotide repeat containing 6B 22q13.1 Rare single gene variant
4
 59 19 Dong S , et al. 2014 Edit
GEN1299 TNRC6C trinucleotide repeat containing adaptor 6C 17q25.3 Rare single gene variant
3
 16 6 Iossifov I et al. 2014 Edit
GEN1216 TNS2 tensin 2 12q13.13 Rare single gene variant
2
 8 4 Luo Y et al. 2020 Edit
GEN468 TOMM20 Translocase of outer mitochondrial membrane 20 homolog (yeast) 1q42.3 Functional
0 1 Anitha A , et al. 2012 Edit
GEN569 TOP1 Topoisomerase (DNA) I 20q12 Rare Single Gene variant
2
 3 7 King IF , et al. 2013 Edit
GEN1354 TOP2B DNA topoisomerase II beta 3p24.2 Functional
3
 6 7 Zhou X et al. 2022 Edit
GEN561 TOP3B Topoisomerase (DNA) III beta 22q11.22 Rare single gene variant
3
 9 7 Xu D , et al. 2013 Edit
GEN1284 TP53BP1 tumor protein p53 binding protein 1 15q15.3 Rare single gene variant
3
 6 4 Wilfert AB et al. 2021 Edit
GEN254 TPH2 tryptophan hydroxylase 2 12q21.1 Genetic Association
2
 12 15 Coon H , et al. 2005 Edit
GEN381 TPO Thyroid peroxidase 2p25.3 Genetic association
2 1 Ramos PS , et al. 2012 Edit
GEN1022 TRAF7 TNF receptor associated factor 7 16p13.3 Rare single gene variant
4
 68 10 Neale BM , et al. 2012 Edit
GEN1218 TRAPPC2L trafficking protein particle complex 2 like 16q24.3 Syndromic
2
 9 4 Luo Y et al. 2020 Edit
GEN914 TRAPPC6B trafficking protein particle complex 6B 14q21.1 Rare single gene variant
2
 30 9 Marin-Valencia I , et al. 2017 Edit
GEN945 TRAPPC9 trafficking protein particle complex 9 8q24.3 Syndromic
3
 68 25 De Rubeis S , et al. 2014 Edit
GEN1162 TRIM23 tripartite motif containing 23 5q12.3 Rare single gene variant
3
 6 8 De Rubeis S , et al. 2014 Edit
GEN1142 TRIM32 tripartite motif containing 32 9q33.1 Rare single gene variant/multigenic CNV
0
 30 5 Zhu JW , et al. 2019 Edit
GEN584 TRIM33 Tripartite motif containing 33 1p13.2 Genetic association/Functional
0
 5 2 Xia K , et al. 2013 Edit
GEN1400 TRIM8 tripartite motif containing 8 10q24.32 Rare single gene variant
4
 20 5 Miyake N et al. 2023 Edit
GEN664 TRIO Trio Rho guanine nucleotide exchange factor 5p15.2 Rare Single Gene variant
4
 177 44 De Rubeis S , et al. 2014 Edit
GEN354 TRIP12 Thyroid hormone receptor interactor 12 2q36.3 Rare single gene variant
4
 Yes 131 38 Chahrour MH , et al. 2012 Edit
GEN1433 TRPC4 transient receptor potential cation channel subfamily C member 4 13q13.3 Genetic association
2
 4 5 et al. Edit
GEN1366 TRPC5 transient receptor potential cation channel subfamily C member 5 Xq23 Rare single gene variant
2
 8 7 de Ligt J , et al. 2012 Edit
GEN666 TRPC6 Transient receptor potential cation channel, subfamily C, member 6 11q22.1 Rare single gene variant/functional
3
 19 6 Griesi-Oliveira K , et al. 2014 Edit
GEN513 TRPM1 transient receptor potential cation channel subfamily M member 1 15q13.3 Rare single gene variant
2
 14 6 Girirajan S , et al. 2013 Edit
GEN1385 TRPM3 transient receptor potential cation channel subfamily M member 3 9q21.12 Rare single gene variant
3
 37 14 Dyment DA et al. 2019 Edit
GEN1332 TRPM6 transient receptor potential cation channel subfamily M member 6 9q21.13 Rare single gene variant
3
 13 6 Iossifov I et al. 2014 Edit
GEN1069 TRRAP transformation/transcription domain associated protein 7q22.1 Rare single gene variant
4
 61 14 Iossifov I et al. 2014 Edit
GEN255 TSC1 tuberous sclerosis 1 9q34.13 Rare Single Gene variant
4
 53 37 Smalley SL 1998 Edit
GEN256 TSC2 tuberous sclerosis 2 16p13.3 Genetic Association
5
 120 56 Smalley SL 1998 Edit
GEN1370 TSHZ1 teashirt zinc finger homeobox 1 18q22.3 Syndromic
3
 9 6 C Yuen RK et al. 2017 Edit
GEN850 TSHZ3 teashirt zinc finger homeobox 3 19 Rare single gene variant
2
 10 5 Caubit X , et al. 2016 Edit
GEN258 TSN translin 2q14.3 Functional
0 3 Stein JM , et al. 2006 Edit
GEN950 TSPAN17 tetraspanin 17 5q35.2 Rare single gene variant
2
 7 4 O'Roak BJ , et al. 2012 Edit
GEN1105 TSPAN4 tetraspanin 4 11p15.5 Rare single gene variant
2
 4 5 Iossifov I et al. 2014 Edit
GEN259 TSPAN7 tetraspanin 7 Xp11.4 Rare Single Gene variant
2
 9 9 Piton A , et al. 2010 Edit
GEN026 TSPOAP1 TSPO associated protein 1 17q22 Rare Single Gene variant
2
 15 7 Bucan M , et al. 2009 Edit
GEN565 TTI2 TELO2 interacting protein 2 8p12 Syndromic
2
 3 3 Langout M , et al. 2013 Edit
GEN260 TTN titin 2q31.2 Rare Single Gene variant
4
 164 33 O'Roak BJ , et al. 2011 Edit
GEN321 TUBGCP5 tubulin, gamma complex associated protein 5 15q11.2 Multigenic CNV
2
 8 6 Leblond CS , et al. 2012 Edit
GEN422 TYR tyrosinase 11q14.3 Functional
3 3 Hamilton SM , et al. 2010 Edit
GEN1422 U2AF2 U2 small nuclear RNA auxiliary factor 2 19q13.42 Rare single gene variant
3
 52 7 et al. Edit
GEN546 UBA6 Ubiquitin-like modifier activating enzyme 6 4q13.2 Functional
2
 6 5 Lee PC , et al. 2013 Edit
GEN1360 UBAP2L ubiquitin associated protein 2 like 1q21.3 Rare single gene variant
3
 15 5 Iossifov I et al. 2014 Edit
GEN261 UBE2H ubiquitin-conjugating enzyme E2H (UBC8 homolog, yeast) 7q32.2 Genetic Association
2 2 Vourc'h P , et al. 2003 Edit
GEN262 UBE3A ubiquitin protein ligase E3A 15q11.2 Genetic Association
4
 44 45 Nurmi EL , et al. 2001 Edit
GEN351 UBE3B ubiquitin protein ligase E3B 12q24.11 Rare single gene variant
2
 Yes 30 11 Chahrour MH , et al. 2012 Edit
GEN478 UBE3C Ubiquitin protein ligase E3C 7q36.3 Rare Single Gene variant
2
 7 6 O'Roak BJ , et al. 2012 Edit
GEN300 UBL7 ubiquitin-like 7 (bone marrow stromal cell-derived) 15q24.1 Rare Single Gene variant
1 1 Salyakina D , et al. 2011 Edit
GEN887 UBN2 ubinuclein 2 7q34 Rare single gene variant
3
 25 5 Iossifov I et al. 2014 Edit
GEN1167 UBR1 ubiquitin protein ligase E3 component n-recognin 1 15q15.2 Rare single gene variant
2
 2 3 Satterstrom FK et al. 2020 Edit
GEN469 UBR5 ubiquitin protein ligase E3 component n-recognin 5 8q22.3 Rare single gene variant
4
 15 11 Kato T , et al. 2012 Edit
GEN275 UBR7 ubiquitin protein ligase E3 component n-recognin 7 (putative) 14q32.12 Rare Single Gene variant
2
 Yes 4 3 Najmabadi H , et al. 2011 Edit
GEN845 UCN3 urocortin 3 10p15.1 Functional
0 1 Shemesh Y , et al. 2016 Edit
GEN1106 UIMC1 ubiquitin interaction motif containing 1 5q35.2 Rare single gene variant
3
 28 6 Iossifov I et al. 2014 Edit
GEN869 UNC13A unc-13 homolog A 19p13.11 Rare single gene variant
3
 15 10 Lipstein N , et al. 2017 Edit
GEN1220 UNC5D unc-5 netrin receptor D 8p12 Rare single gene variant
2
 Yes 9 5 Schmitz-Abe K et al. 2020 Edit
GEN976 UNC79 unc-79 homolog, NALCN channel complex subunit 14q32.12 Rare single gene variant
4
 22 9 Iossifov I et al. 2014 Edit
GEN873 UNC80 unc-80 homolog, NALCN activator 2q34 Rare single gene variant
3
 22 12 Iossifov I et al. 2014 Edit
GEN509 UPB1 beta-ureidopropionase 1 22q11.23 Rare single gene variant
2
 4 4 Prasad A , et al. 2013 Edit
GEN518 UPF2 UPF2, regulator of nonsense mediated mRNA decay 10p14 Multigenic CNV
3
 13 10 Nguyen LS , et al. 2013 Edit
GEN364 UPF3B UPF3B, regulator of nonsense mediated mRNA decay Xq24 Syndromic
3
 31 18 Tarpey PS , et al. 2007 Edit
GEN935 USH2A usherin 1q41 Rare single gene variant
3
 24 10 Neale BM , et al. 2012 Edit
GEN903 USP15 ubiquitin specific peptidase 15 12q14.1 Rare single gene variant
3
 4 4 O'Roak BJ , et al. 2012 Edit
GEN1437 USP27X ubiquitin specific peptidase 27 X-linked Xp11.23 Rare single gene variant
3
 15 6 et al. Edit
GEN1333 USP30 ubiquitin specific peptidase 30 12q24.11 Rare single gene variant
2
 3 3 Iossifov I et al. 2014 Edit
GEN770 USP45 Ubiquitin specific peptidase 45 6q16.2 Rare single gene variant
2
 7 6 Sanders SJ , et al. 2015 Edit
GEN758 USP7 Ubiquitin specific peptidase 7 (herpes virus-associated) 16p13.2 Rare single gene variant
2
 38 15 Hao YH , et al. 2015 Edit
GEN1126 USP9X ubiquitin specific peptidase 9 X-linked Xp11.4 Syndromic
3
 72 17 Homan CC , et al. 2014 Edit
GEN313 USP9Y ubiquitin specific peptidase 9, Y-linked Yq11.221 Genetic Association
2
 2 2 Wang K , et al. 2009 Edit
GEN698 UTRN utrophin 6q24.2 Rare single gene variant
3
 16 7 Li J , et al. 2015 Edit
GEN1082 VAMP2 vesicle associated membrane protein 2 17p13.1 Rare single gene variant
2
 8 4 Salpietro V , et al. 2019 Edit
GEN263 VASH1 vasohibin 1 14q24.3 Genetic Association
2 4 Wang K , et al. 2009 Edit
GEN1418 VCP valosin containing protein 9p13.3 Rare single gene variant
3
 16 4 et al. Edit
GEN1051 VDR vitamin D receptor 12q13.11 Genetic association
12 10 Schmidt RJ , et al. 2015 Edit
GEN1157 VEZF1 vascular endothelial zinc finger 1 17q22 Rare single gene variant
2
 2 3 De Rubeis S , et al. 2014 Edit
GEN665 VIL1 Villin 1 2q35 Rare single gene variant
2
 19 4 De Rubeis S , et al. 2014 Edit
GEN554 VIP vasoactive intestinal peptide 6q25.2 Functional
2
 3 7 Hill JM , et al. 2007 Edit
GEN787 VLDLR Very low density lipoprotein receptor 9p24.2 Functional
2
 8 6 Fatemi SH , et al. 2005 Edit
GEN281 VPS13B vacuolar protein sorting 13 homolog B (yeast) 8q22.2 Syndromic
4
 Yes 85 29 Kolehmainen J , et al. 2003 Edit
GEN1416 VPS54 VPS54subunit of GARP complex 2p15-p14 Rare single gene variant
2
 4 3 Cirnigliaro M et al. 2023 Edit
GEN978 VRK3 vaccinia related kinase 3 19q13.33 Functional
1 2 Kang MS , et al. 2017 Edit
GEN751 VSIG4 V-set and immunoglobulin domain containing 4 Xq12 Rare single gene variant
2
 3 3 Lim ET , et al. 2013 Edit
GEN1211 VWA7 von Willebrand factor A domain containing 7 6p21.33 Rare single gene variant
2
 9 3 Luo Y et al. 2020 Edit
GEN654 WAC WW domain containing adaptor with coiled-coil 10p12.1 Syndromic
4
 68 30 Iossifov I et al. 2014 Edit
GEN1021 WASF1 WAS protein family member 1 6q21 Syndromic
2
 12 4 Ito Y , et al. 2018 Edit
GEN635 WDFY3 WD repeat and FYVE domain containing 3 4q21.23 Rare Single Gene variant
5
 75 24 Iossifov I , et al. 2012 Edit
GEN1065 WDFY4 WDFY family member 4 10q11.23 Rare single gene variant
3
 16 11 Iossifov I et al. 2014 Edit
GEN918 WDR26 WD repeat domain 26 1q42.11-q42.12 Rare single gene variant
3
 33 10 Skraban CM , et al. 2017 Edit
GEN1424 WDR37 WD repeat domain 37 10p15.3 Rare single gene variant
2
 15 6 et al. Edit
GEN1368 WDR5 WD repeat domain 5 9q34.2 Rare single gene variant
2
 14 3 Snijders Blok L et al. 2022 Edit
GEN699 WDR93 WD repeat domain 93 15q26.1 Rare single gene variant
0
 Yes 3 3 Alazami AM , et al. 2015 Edit
GEN264 WNK3 WNK lysine deficient protein kinase 3 Xp11.22 Rare Single Gene variant
2
 3 7 Piton A , et al. 2010 Edit
GEN572 WNT1 Wingless-type MMTV integration site family, member 1 12q13.12 Genetic association
2
 5 6 Martin PM , et al. 2013 Edit
GEN265 WNT2 wingless-type MMTV integration site family member 2 7q31.2 Genetic Association
0
 15 11 Wassink TH , et al. 2001 Edit
GEN851 WWOX WW domain containing oxidoreductase 16 Rare single gene variant
2
 42 15 Leppa VM , et al. 2016 Edit
GEN1197 WWP1 WW domain containing E3 ubiquitin protein ligase 1 8q21.3 Rare single gene variant
2
 10 2 Novelli G et al. 2020 Edit
GEN266 XIRP1 xin actin-binding repeat containing 1 3p22.2 Rare Single Gene variant
3
 14 11 O'Roak BJ , et al. 2011 Edit
GEN267 XPC xeroderma pigmentosum, complementation group C 3p25.1 Rare Single Gene variant
2
 8 12 Khan SG , et al. 1998 Edit
GEN377 XPO1 exportin 1 2p15 Genetic association
2
 10 8 Liu X , et al. 2011 Edit
GEN1188 XRCC6 X-ray repair cross complementing 6 22q13.2 Rare single gene variant
2
 5 2 Sjaarda CP et al. 2020 Edit
GEN397 YEATS2 YEATS domain containing 2 3q27.1 Genetic association
3
 7 4 Anney R , et al. 2012 Edit
GEN339 YTHDC2 YTH domain containing 2 5q22.2 Rare Single Gene variant
3
 10 7 O'Roak BJ , et al. 2012 Edit
GEN501 YWHAE tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon 17p13.3 Multigenic CNV
3 5 Prasad A , et al. 2013 Edit
GEN1146 YWHAG tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma 7q11.23 Syndromic
2
 19 13 De Rubeis S , et al. 2014 Edit
GEN1335 YWHAZ tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta 8q22.3 Genetic association
3
 18 16 Toma C , et al. 2013 Edit
GEN910 YY1 YY1transcription factor 14q32.2 Functional
3
 40 9 Gabriele M , et al. 2017 Edit
GEN401 ZBTB16 Zinc finger and BTB domain containing 16 11q23.2 Genetic association
2
 2 3 Anney R , et al. 2012 Edit
GEN1387 ZBTB18 zinc finger and BTB domain containing 18 1q44 Rare single gene variant
3
 31 13 Feliciano P et al. 2019 Edit
GEN619 ZBTB20 Zinc finger and BTB domain containing 20 3q13.31 Multigenic CNV
4
 71 31 Cordeddu V , et al. 2014 Edit
GEN1377 ZBTB21 zinc finger and BTB domain containing 21 21q22.3 Rare single gene variant
3
 4 4 Iossifov I et al. 2014 Edit
GEN1417 ZBTB47 zinc finger and BTB domain containing 47 3p22.1 Rare single gene variant
2
 U 5 1 et al. Edit
GEN1287 ZBTB7A zinc finger and BTB domain containing 7A 19p13.3 Syndromic
3
 13 2 von der Lippe C et al. 2022 Edit
GEN1115 ZC3H11A zinc finger CCCH-type containing 11A 1q32.1 Rare single gene variant
2
 4 4 De Rubeis S , et al. 2014 Edit
GEN875 ZC3H4 zinc finger CCCH-type containing 4 19q13.32 Rare single gene variant
3
 27 6 Iossifov I et al. 2014 Edit
GEN1438 ZFHX3 zinc finger homeobox 3 16q22.2-q22.3 Rare single gene variant
4
 71 12 et al. Edit
GEN1436 ZFX zinc finger protein X-linked Xp22.11 Rare single gene variant
3
 19 4 et al. Edit
GEN1116 ZFYVE26 zinc finger FYVE-type containing 26 14q24.1 Rare single gene variant
3
 9 7 De Rubeis S , et al. 2014 Edit
GEN1143 ZMIZ1 zinc finger MIZ-type containing 1 10q22.3 Syndromic
3
 27 11 Liu Y , et al. 2018 Edit
GEN1226 ZMYM2 zinc finger MYM-type containing 2 13q12.11 Rare single gene variant
3
 46 10 Connaughton DM et al. 2020 Edit
GEN1383 ZMYM3 zinc finger MYM-type containing 3 Xq13.1 Syndromic
3
 29 8 Hiatt SM et al. 2023 Edit
GEN641 ZMYND11 Zinc finger, MYND-type containing 11 10p15.3 Rare single gene variant
4
 53 14 Iossifov I , et al. 2012 Edit
GEN1159 ZMYND8 zinc finger MYND-type containing 8 20q13.12 Rare single gene variant
4
 20 8 Iossifov I et al. 2014 Edit
GEN352 ZNF18 zinc finger protein 18 17p12 Rare single gene variant
2
 Yes 7 2 Chahrour MH , et al. 2012 Edit
GEN854 ZNF292 zinc finger protein 292 6q14.3 Rare single gene variant
4
 52 12 Neale BM , et al. 2012 Edit
GEN602 ZNF385B Zinc finger protein 385B 2q31.2-q31.3 Genetic association
2
 8 3 Maestrini E , et al. 2009 Edit
GEN484 ZNF407 zinc finger protein 407 18q22.3 Rare Single Gene variant
2
 24 8 Ren CM , et al. 2012 Edit
GEN729 ZNF462 Zinc finger protein 462 9q31.2 Rare single gene variant
4
 36 13 De Rubeis S , et al. 2014 Edit
GEN499 ZNF517 Zinc finger protein 517 8q24.3 Rare single gene variant
2
 7 5 Prasad A , et al. 2013 Edit
GEN965 ZNF548 zinc finger protein 548 19q13.43 Rare single gene variant
2
 11 4 Krumm N , et al. 2015 Edit
GEN773 ZNF559 Zinc finger protein 559 19p13.2 Rare single gene variant
3
 33 9 Sanders SJ , et al. 2015 Edit
GEN944 ZNF626 zinc finger protein 626 19p12 Rare single gene variant
2
 28 4 Krumm N , et al. 2015 Edit
GEN1285 ZNF638 zinc finger protein 638 2p13.2 Rare single gene variant
3
 8 4 Wilfert AB et al. 2021 Edit
GEN1297 ZNF711 zinc finger protein 711 Xq21.1 Rare single gene variant
2
 10 5 van der Werf IM et al. 2017 Edit
GEN634 ZNF713 Zinc finger protein 713 7p11.2 Rare single gene variant
2
 4 3 Metsu S , et al. 2014 Edit
GEN705 ZNF774 Zinc finger protein 774 15q26.1 Rare single gene variant
2
 15 4 De Rubeis S , et al. 2014 Edit
GEN618 ZNF804A Zinc finger protein 804A 2q32.1 Genetic association
2
 24 16 Anitha A , et al. 2014 Edit
GEN398 ZNF827 Zinc finger protein 827 4q31.21-q31.22 Genetic association
2
 4 3 Anney R , et al. 2012 Edit
GEN293 ZSWIM5 zinc finger, SWIM-type containing 5 1p34.1 Rare Single Gene variant
2
 4 3 Salyakina D , et al. 2011 Edit
GEN990 ZSWIM6 zinc finger SWIM-type containing 6 5q12.1 Syndromic
3
 12 6 Palmer EE , et al. 2017 Edit
GEN798 ZWILCH zwilchkinetochore protein 15q22.31 Rare single gene variant
2
 6 5 Iossifov I et al. 2014 Edit

 

CNV Search Results

Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
 
10
Deletion-Duplication
 17
 
 
10
Duplication
 1
 
 
10
Deletion-Duplication
 2
 
 
10
Deletion
 2
 
 
10
Deletion-Duplication
 9
 
 
10
Deletion
 1
 
 
10
Deletion
 3
 
 
10
Deletion-Duplication
 18
 
 
10
Deletion-Duplication
 14
 
 
10
Deletion-Duplication
 1
 
 
10
Deletion-Duplication
 14
 
 
10
Deletion
 1
 
 
10
Deletion
 1
 
 
10
Deletion
 4
 
 
10
Deletion
 7
 
 
10
Duplication
 1
 
 
10
Deletion-Duplication
 24
 
 
10
Duplication
 2
 
 
10
Duplication
 1
 
 
10
Duplication
 1
 
 
10
Duplication
 1
 
 
10
Deletion
 3
 
 
10
Deletion-Duplication
 3
 
 
10
Deletion
 4
 
 
10
Duplication
 6
 
 
10
Deletion
 1
 
 
10
Deletion-Duplication
 14
 
 
10
Duplication
 4
 
 
10
Deletion
 1
 
 
10
Deletion-Duplication
 23
 
 
10
Duplication
 17
 
 
10
Duplication
 5
 
 
10
Duplication
 3
 
 
10
Deletion-Duplication
 28
 
 
10
Deletion
 1
 
 
10
Duplication
 1
 
 
10
Deletion-Duplication
 5
 
 
10
Deletion
 2
 
 
10
Deletion
 1
 
 
10
Deletion-Duplication
 44
 
 
10
Duplication
 2
 
 
10
Deletion
 9
 
 
10
Deletion
 1
 
 
10
Deletion
 1
 
 
10
Deletion-Duplication
 11
 
 
10
Deletion
 2
 
 
10
Deletion-Duplication
 16
 
 
10
Deletion-Duplication
 5
 
 
10
Deletion-Duplication
 25
 
 
10
Deletion
 2
 
 
10
Deletion
 10
 
 
10
Deletion
 1
 
 
10
Deletion
 8
 
 
10
Duplication
 1
 
 
10
Duplication
 1
 
 
10
Deletion
 3
 
 
10
Duplication
 2
 
 
10
Deletion-Duplication
 15
 
 
10
Deletion
 1
 
 
10
Deletion
 1
 
 
10
Duplication
 1
 
 
10
Duplication
 2
 
 
10
Deletion
 1
 
 
10
Duplication
 2
 
 
10
Deletion-Duplication
 12
 
 
10
Deletion
 1
 
 
10
Duplication
 1
 
 
10
Deletion-Duplication
 10
 
 
10
Deletion
 1
 
 
10
Duplication
 2
 
 
10
Deletion-Duplication
 7
 
 
10
Duplication
 1
 
 
10
Duplication
 1
 
 
10
Deletion-Duplication
 13
 
 
10
Duplication
 1
 
 
10
Deletion
 4
 
 
10
Deletion
 2
 
 
10
Deletion-Duplication
 10
 
 
10
Deletion
 1
 
 
10
Deletion
 6
 
 
10
Deletion-Duplication
 10
 
 
10
Deletion-Duplication
 16
 
 
10
Deletion-Duplication
 43
 
 
11
Deletion-Duplication
 13
 
 
11
Deletion-Duplication
 15
 
 
11
Duplication
 1
 
 
11
Deletion-Duplication
 15
 
 
11
Deletion
 2
 
 
11
Deletion-Duplication
 29
 
 
11
Deletion
 2
 
 
11
Deletion-Duplication
 4
 
 
11
Deletion-Duplication
 5
 
 
11
Deletion
 1
 
 
11
Deletion
 3
 
 
11
Deletion
 4
 
 
11
Deletion
 1
 
 
11
Deletion
 2
 
 
11
Deletion-Duplication
 18
 
 
11
Deletion
 1
 
 
11
Deletion
 2
 
 
11
Deletion
 2
 
 
11
Deletion
 1
 
 
11
Duplication
 4
 
 
11
Deletion-Duplication
 20
 
 
11
Deletion
 1
 
 
11
Deletion
 1
 
 
11
Deletion
 1
 
 
11
Duplication
 11
 
 
11
Deletion
 2
 
 
11
Deletion-Duplication
 34
 
 
11
Deletion-Duplication
 23
 
 
11
Duplication
 1
 
 
11
Duplication
 1
 
 
11
Deletion-Duplication
 11
 
 
11
Duplication
 5
 
 
11
Deletion-Duplication
 7
 
 
11
Deletion-Duplication
 11
 
 
11
Deletion
 1
 
 
11
Deletion
 12
 
 
11
Deletion-Duplication
 1
 
 
11
Deletion-Duplication
 18
 
 
11
Deletion
 1
 
 
11
Deletion
 3
 
 
11
Duplication
 1
 
 
11
Deletion
 7
 
 
11
Duplication
 3
 
 
11
Deletion-Duplication
 17
 
 
11
Deletion
 1
 
 
11
Deletion
 1
 
 
11
Deletion
 1
 
 
11
Deletion-Duplication
 34
 
 
11
Duplication
 2
 
 
11
Deletion
 1
 
 
11
Deletion
 1
 
 
11
Deletion-Duplication
 10
 
 
11
Deletion
 3
 
 
11
Deletion-Duplication
 9
 
 
11
Deletion-Duplication
 2
 
 
11
Deletion
 1
 
 
11
Deletion-Duplication
 18
 
 
11
Duplication
 1
 
 
11
Deletion-Duplication
 26
 
 
11
Deletion-Duplication
 5
 
 
11
Deletion
 3
 
 
11
Duplication
 2
 
 
11
Deletion-Duplication
 19
 
 
11
Duplication
 1
 
 
11
Deletion
 9
 
 
11
Duplication
 1
 
 
11
Deletion-Duplication
 5
 
 
11
Deletion-Duplication
 13
 
 
11
Deletion
 2
 
 
11
Deletion
 9
 
 
11
Deletion-Duplication
 11
 
 
11
Deletion
 9
 
 
12
Deletion-Duplication
 9
 
 
12
Deletion-Duplication
 10
 
 
12
Deletion
 3
 
 
12
Deletion-Duplication
 15
 
 
12
Deletion
 1
 
 
12
Deletion
 2
 
 
12
Deletion
 1
 
 
12
Deletion-Duplication
 10
 
 
12
Deletion
 1
 
 
12
Deletion
 11
 
 
12
Deletion-Duplication
 18
 
 
12
Deletion
 4
 
 
12
Deletion
 2
 
 
12
Duplication
 1
 
 
12
Deletion
 11
 
 
12
Deletion
 1
 
 
12
Deletion
 1
 
 
12
Deletion
 1
 
 
12
Deletion-Duplication
 15
 
 
12
Deletion
 2
 
 
12
Deletion
 4
 
 
12
Deletion-Duplication
 27
 
 
12
Deletion-Duplication
 12
 
 
12
Duplication
 1
 
 
12
Deletion-Duplication
 36
 
 
12
Duplication
 5
 
 
12
Deletion
 1
 
 
12
Duplication
 2
 
 
12
Duplication
 1
 
 
12
Duplication
 3
 
 
12
Deletion
 9
 
 
12
Duplication
 1
 
 
12
Duplication
 1
 
 
12
Deletion-Duplication
 20
 
 
12
Deletion
 2
 
 
12
Duplication
 1
 
 
12
Deletion-Duplication
 7
 
 
12
Deletion-Duplication
 8
 
 
12
Deletion-Duplication
 16
 
 
12
Deletion
 7
 
 
12
Duplication
 3
 
 
12
Duplication
 2
 
 
12
Deletion-Duplication
 9
 
 
12
Deletion
 4
 
 
12
Deletion
 2
 
 
12
Deletion
 1
 
 
12
Deletion
 1
 
 
12
Deletion-Duplication
 13
 
 
12
Duplication
 1
 
 
12
Deletion-Duplication
 7
 
 
12
Deletion
 1
 
 
12
Deletion-Duplication
 9
 
 
12
Deletion
 2
 
 
12
Deletion-Duplication
 10
 
 
12
Deletion
 1
 
 
12
Duplication
 3
 
 
12
Deletion
 1
 
 
12
Deletion-Duplication
 11
 
 
12
Duplication
 2
 
 
12
Deletion-Duplication
 10
 
 
12
Duplication
 6
 
 
12
Deletion
 2
 
 
12
Deletion-Duplication
 6
 
 
12
Deletion
 1
 
 
12
Deletion-Duplication
 19
 
 
12
Deletion
 1
 
 
12
Deletion-Duplication
 9
 
 
12
Deletion
 1
 
 
12
Deletion
 1
 
 
12
Deletion-Duplication
 11
 
 
12
Deletion
 7
 
 
12
Deletion-Duplication
 10
 
 
12
Duplication
 2
 
 
12
Duplication
 1
 
 
12
Duplication
 3
 
 
12
Duplication
 6
 
 
12
Duplication
 1
 
 
12
Deletion-Duplication
 5
 
 
12
Duplication
 1
 
 
12
Duplication
 1
 
 
12
Deletion-Duplication
 26
 
 
12
Duplication
 1
 
 
12
Deletion-Duplication
 2
 
 
12
Deletion-Duplication
 10
 
 
12
Duplication
 4
 
 
12
Deletion-Duplication
 31
 
 
12
Deletion
 1
 
 
13
Duplication
 3
 
 
13
Duplication
 1
 
 
13
Deletion
 1
 
 
13
Duplication
 1
 
 
13
Deletion-Duplication
 20
 
 
13
Deletion-Duplication
 3
 
 
13
Duplication
 2
 
 
13
N/A
 1
 
 
13
Deletion
 1
 
 
13
Duplication
 2
 
 
13
Deletion-Duplication
 24
 
 
13
Deletion
 8
 
 
13
Deletion-Duplication
 6
 
 
13
Deletion
 2
 
 
13
Deletion
 2
 
 
13
Deletion
 1
 
 
13
Duplication
 1
 
 
13
Duplication
 1
 
 
13
Deletion
 6
 
 
13
Duplication
 2
 
 
13
Deletion-Duplication
 6
 
 
13
Duplication
 2
 
 
13
Duplication
 1
 
 
13
Deletion
 13
 
 
13
Deletion
 1
 
 
13
Deletion
 1
 
 
13
Deletion
 1
 
 
13
Deletion
 1
 
 
13
Duplication
 1
 
 
13
Deletion
 1
 
 
13
Duplication
 1
 
 
13
Deletion-Duplication
 13
 
 
13
Deletion
 1
 
 
13
Deletion-Duplication
 11
 
 
13
Duplication
 1
 
 
13
Deletion
 1
 
 
13
Deletion-Duplication
 18
 
 
13
Deletion
 1
 
 
13
N/A
 1
 
 
13
Deletion-Duplication
 11
 
 
13
Deletion
 1
 
 
13
Deletion-Duplication
 15
 
 
13
Duplication
 2
 
 
13
Duplication
 1
 
 
13
Deletion
 1
 
 
13
Deletion
 3
 
 
13
Deletion-Duplication
 15
 
 
13
Deletion
 1
 
 
13
Duplication
 1
 
 
13
Deletion-Duplication
 2
 
 
13
Deletion-Duplication
 7
 
 
13
Duplication
 6
 
 
13
Deletion
 1
 
 
13
Deletion
 1
 
 
13
Deletion-Duplication
 15
 
 
13
Deletion-Duplication
 2
 
 
13
Duplication
 1
 
 
13
Duplication
 1
 
 
13
Deletion
 1
 
 
13
Deletion-Duplication
 10
 
 
13
Duplication
 1
 
 
13
Deletion
 1
 
 
13
Deletion-Duplication
 4
 
 
13
Deletion
 4
 
 
13
Deletion-Duplication
 1
 
 
13
Duplication
 1
 
 
13
Deletion-Duplication
 2
 
 
13
Deletion-Duplication
 8
 
 
13
Deletion
 6
 
 
13
Deletion-Duplication
 3
 
 
13
Deletion-Duplication
 2
 
 
13
Deletion-Duplication
 3
 
 
13
Deletion
 1
 
 
13
Deletion-Duplication
 25
 
 
14
Duplication
 1
 
 
14
Deletion-Duplication
 51
 
 
14
Duplication
 4
 
 
14
Duplication
 1
 
 
14
Deletion
 2
 
 
14
Deletion
 1
 
 
14
Deletion-Duplication
 22
 
 
14
Deletion
 1
 
 
14
Duplication
 1
 
 
14
Deletion
 1
 
 
14
Deletion
 2
 
 
14
Deletion-Duplication
 13
 
 
14
Deletion-Duplication
 12
 
 
14
Deletion-Duplication
 5
 
 
14
Deletion-Duplication
 14
 
 
14
Deletion
 2
 
 
14
Deletion-Duplication
 6
 
 
14
Deletion
 1
 
 
14
Deletion-Duplication
 16
 
 
14
Deletion
 4
 
 
14
Deletion-Duplication
 19
 
 
14
Duplication
 2
 
 
14
Deletion-Duplication
 7
 
 
14
Deletion-Duplication
 10
 
 
14
Duplication
 3
 
 
14
Duplication
 1
 
 
14
Deletion-Duplication
 19
 
 
14
Deletion
 7
 
 
14
Duplication
 1
 
 
14
Deletion
 16
 
 
14
Duplication
 1
 
 
14
Deletion
 1
 
 
14
Duplication
 2
 
 
14
Duplication
 1
 
 
14
Deletion
 1
 
 
14
Deletion
 7
 
 
14
Duplication
 1
 
 
14
Duplication
 2
 
 
14
Duplication
 1
 
 
14
Deletion-Duplication
 22
 
 
14
Deletion
 1
 
 
14
Deletion
 6
 
 
14
Deletion
 1
 
 
14
Deletion
 4
 
 
14
Deletion-Duplication
 11
 
 
14
Duplication
 2
 
 
14
Deletion-Duplication
 4
 
 
14
Deletion
 3
 
 
14
Deletion-Duplication
 31
 
 
15
Duplication
 10
  construct
 
15
Duplication
 1
 
 
15
Duplication
 6
 
 
15
Duplication
 3
 
 
15
Duplication
 9
 
 
15
Duplication
 2
 
 
15
Duplication
 5
 
 
15
Deletion
 1
 
 
15
Deletion-Duplication
 114
 
 
15
Duplication
 10
 
 
15
Duplication
 81
  construct
 
15
Duplication
 9
 
 
15
Duplication
 19
 
 
15
Duplication
 3
 
 
15
Deletion-Duplication
 12
 
 
15
Duplication
 5
 
 
15
Duplication
 1
 
 
15
Duplication
 1
 
 
15
Deletion-Duplication
 14
 
 
15
Deletion-Duplication
 15
 
 
15
Deletion
 21
 
 
15
Deletion-Duplication
 16
 
 
15
Deletion-Duplication
 53
 
 
15
Deletion-Duplication
 78
  construct
 
15
Deletion-Duplication
 2
 
 
15
Deletion
 1
 
 
15
Deletion-Duplication
 24
 
 
15
Duplication
 1
 
 
15
Deletion-Duplication
 9
 
 
15
Deletion
 4
 
 
15
Deletion-Duplication
 10
 
 
15
Deletion-Duplication
 8
 
 
15
Deletion
 2
 
 
15
Deletion-Duplication
 10
 
 
15
Deletion
 1
 
 
15
Duplication
 1
 
 
15
Deletion-Duplication
 19
 
 
15
Deletion
 6
 
 
15
Deletion
 1
 
 
15
Deletion-Duplication
 11
 
 
15
Deletion-Duplication
 11
 
 
15
Deletion
 1
 
 
15
Deletion-Duplication
 13
 
 
15
Deletion
 9
 
 
15
Deletion
 3
 
 
15
Deletion
 1
 
 
15
Duplication
 2
 
 
15
Deletion-Duplication
 13
 
 
15
Deletion
 12
 
 
15
Duplication
 2
 
 
15
Deletion
 9
 
 
15
Duplication
 1
 
 
15
Duplication
 2
 
 
15
Duplication
 1
 
 
15
Deletion-Duplication
 7
 
 
15
Deletion
 1
 
 
15
Duplication
 2
 
 
15
Deletion-Duplication
 16
 
 
15
Deletion-Duplication
 29
 
 
15
Duplication
 4
 
 
15
Duplication
 3
 
 
15
Deletion-Duplication
 4
 
 
15
Deletion-Duplication
 36
 
 
16
Deletion-Duplication
 139
  construct
 
16
Deletion-Duplication
 20
 
 
16
Duplication
 4
 
 
16
Deletion
 1
 
 
16
Deletion
 1
 
 
16
Deletion-Duplication
 25
 
 
16
Duplication
 15
 
 
16
Deletion-Duplication
 19
 
 
16
Duplication
 1
 
 
16
Deletion-Duplication
 14
 
 
16
Deletion
 1
 
 
16
Deletion-Duplication
 42
 
 
16
Deletion
 4
 
 
16
Deletion-Duplication
 68
 
 
16
Duplication
 3
 
 
16
Deletion-Duplication
 2
 
 
16
Deletion
 5
 
 
16
Deletion-Duplication
 1
 
 
16
Deletion-Duplication
 10
 
 
16
Deletion
 1
 
 
16
Deletion-Duplication
 13
 
 
16
Duplication
 1
 
 
16
Duplication
 1
 
 
16
Deletion-Duplication
 18
 
 
16
Deletion
 3
 
 
16
Duplication
 1
 
 
16
Duplication
 1
 
 
16
Deletion-Duplication
 23
 
 
16
Deletion
 3
 
 
16
Duplication
 4
 
 
16
Deletion
 1
 
 
16
Duplication
 2
 
 
16
Deletion
 4
 
 
16
Deletion
 2
 
 
16
Duplication
 1
 
 
16
Deletion-Duplication
 9
 
 
16
Duplication
 4
 
 
16
Deletion
 1
 
 
16
Deletion-Duplication
 47
 
 
16
Deletion
 3
 
 
16
Deletion
 1
 
 
16
Duplication
 6
 
 
16
Deletion-Duplication
 14
 
 
16
Deletion
 2
 
 
16
Deletion
 6
 
 
16
Duplication
 1
 
 
16
Deletion-Duplication
 22
 
 
16
Deletion
 5
 
 
16
Deletion
 1
 
 
16
Duplication
 1
 
 
16
Deletion-Duplication
 21
 
 
16
Deletion
 2
 
 
16
Deletion-Duplication
 3
 
 
16
Deletion-Duplication
 10
 
 
16
Deletion
 12
 
 
16
Deletion-Duplication
 34
 
 
17
Deletion-Duplication
 63
  construct
 
17
Deletion-Duplication
 4
 
 
17
Deletion-Duplication
 36
 
 
17
Duplication
 7
 
 
17
Duplication
 1
 
 
17
Duplication
 1
 
 
17
Deletion-Duplication
 29
 
 
17
Duplication
 2
 
 
17
Deletion-Duplication
 20
 
 
17
Duplication
 8
 
 
17
Deletion-Duplication
 51
 
 
17
Duplication
 1
 
 
17
Duplication
 3
 
 
17
Deletion-Duplication
 5
 
 
17
Duplication
 9
 
 
17
Duplication
 1
 
 
17
Duplication
 1
 
 
17
Deletion
 6
 
 
17
Duplication
 3
 
 
17
Duplication
 2
 
 
17
Deletion-Duplication
 27
 
 
17
Deletion
 2
 
 
17
Deletion-Duplication
 74
 
 
17
Duplication
 1
 
 
17
Duplication
 1
 
 
17
Deletion
 2
 
 
17
Duplication
 1
 
 
17
Duplication
 49
 
 
17
Deletion
 5
 
 
17
Duplication
 1
 
 
17
Deletion
 2
 
 
17
Duplication
 1
 
 
17
Deletion-Duplication
 8
 
 
17
Deletion
 1
 
 
17
Duplication
 1
 
 
17
Deletion-Duplication
 20
 
 
17
Deletion
 1
 
 
17
Deletion
 8
 
 
17
Duplication
 1
 
 
17
Duplication
 1
 
 
17
Deletion-Duplication
 11
 
 
17
Deletion
 2
 
 
17
Duplication
 1
 
 
17
Deletion
 1
 
 
17
Deletion
 13
 
 
17
Deletion
 2
 
 
17
Deletion-Duplication
 7
 
 
17
Deletion
 1
 
 
17
Duplication
 1
 
 
17
Deletion-Duplication
 24
 
 
17
Duplication
 1
 
 
17
Duplication
 3
 
 
17
Deletion-Duplication
 5
 
 
17
Deletion-Duplication
 29
 
 
18
Deletion-Duplication
 14
 
 
18
Duplication
 2
 
 
18
Deletion
 3
 
 
18
Duplication
 11
 
 
18
Duplication
 11
 
 
18
Deletion
 2
 
 
18
Deletion
 3
 
 
18
Deletion-Duplication
 11
 
 
18
Duplication
 2
 
 
18
Duplication
 2
 
 
18
Duplication
 1
 
 
18
Duplication
 1
 
 
18
Duplication
 2
 
 
18
Deletion-Duplication
 13
 
 
18
Duplication
 1
 
 
18
Deletion
 1
 
 
18
Deletion-Duplication
 17
 
 
18
Deletion
 3
 
 
18
Deletion-Duplication
 1
 
 
18
Duplication
 1
 
 
18
Deletion-Duplication
 19
 
 
18
Deletion
 2
 
 
18
Deletion-Duplication
 16
 
 
18
N/A
 3
 
 
18
Deletion-Duplication
 16
 
 
18
Duplication
 2
 
 
18
Deletion-Duplication
 14
 
 
18
Deletion
 2
 
 
18
Duplication
 1
 
 
18
Deletion
 2
 
 
18
Deletion
 5
 
 
18
Deletion-Duplication
 10
 
 
18
Deletion
 4
 
 
18
Deletion-Duplication
 10
 
 
18
Deletion
 2
 
 
18
Deletion
 8
 
 
18
Deletion-Duplication
 5
 
 
18
Deletion-Duplication
 5
 
 
18
Deletion-Duplication
 8
 
 
18
Deletion
 3
 
 
18
Deletion
 1
 
 
18
Deletion-Duplication
 18
 
 
18
Deletion-Duplication
 5
 
 
18
Deletion
 1
 
 
19
Deletion-Duplication
 25
 
 
19
Duplication
 1
 
 
19
Deletion-Duplication
 17
 
 
19
Duplication
 1
 
 
19
Deletion-Duplication
 18
 
 
19
Duplication
 1
 
 
19
Deletion
 5
 
 
19
Duplication
 1
 
 
19
Deletion
 6
 
 
19
Duplication
 1
 
 
19
Deletion
 2
 
 
19
Deletion
 2
 
 
19
Deletion-Duplication
 31
 
 
19
Duplication
 2
 
 
19
Deletion-Duplication
 6
 
 
19
Deletion-Duplication
 3
 
 
19
Deletion-Duplication
 36
 
 
19
Duplication
 1
 
 
19
Duplication
 1
 
 
19
Deletion-Duplication
 10
 
 
19
Deletion-Duplication
 11
 
 
19
Duplication
 3
 
 
19
Deletion
 1
 
 
19
Duplication
 1
 
 
19
Deletion-Duplication
 17
 
 
19
Deletion
 6
 
 
19
Deletion
 2
 
 
19
Deletion-Duplication
 19
 
 
19
Deletion-Duplication
 13
 
 
19
Duplication
 2
 
 
19
Duplication
 1
 
 
19
Deletion-Duplication
 19
 
 
19
Deletion-Duplication
 4
 
 
19
Duplication
 1
 
 
19
Deletion-Duplication
 30
 
 
19
Duplication
 6
 
 
19
Deletion-Duplication
 20
 
 
1
Duplication
 1
 
 
1
Deletion
 1
 
 
1
Deletion-Duplication
 1
 
 
1
Deletion-Duplication
 13
 
 
1
Duplication
 1
 
 
1
Deletion-Duplication
 24
 
 
1
Duplication
 1
 
 
1
Duplication
 2
 
 
1
Deletion-Duplication
 23
 
 
1
Deletion
 2
 
 
1
Duplication
 2
 
 
1
Deletion-Duplication
 16
 
 
1
Deletion
 3
 
 
1
Deletion
 1
 
 
1
Deletion
 8
 
 
1
Deletion
 1
 
 
1
Deletion
 1
 
 
1
Deletion
 1
 
 
1
Deletion
 4
 
 
1
Deletion-Duplication
 31
 
 
1
Duplication
 1
 
 
1
Deletion
 1
 
 
1
Deletion-Duplication
 24
 
 
1
Deletion
 3
 
 
1
Deletion
 1
 
 
1
Duplication
 4
 
 
1
Deletion-Duplication
 6
 
 
1
Deletion
 1
 
 
1
Deletion-Duplication
 14
 
 
1
Duplication
 1
 
 
1
Deletion
 1
 
 
1
Deletion-Duplication
 17
 
 
1
Duplication
 1
 
 
1
Deletion-Duplication
 16
 
 
1
Deletion-Duplication
 16
 
 
1
Duplication
 1
 
 
1
Deletion
 1
 
 
1
Deletion-Duplication
 11
 
 
1
Duplication
 1
 
 
1
Deletion
 3
 
 
1
Deletion-Duplication
 13
 
 
1
Duplication
 2
 
 
1
Deletion-Duplication
 1
 
 
1
Deletion
 6
 
 
1
Deletion
 1
 
 
1
Deletion-Duplication
 15
 
 
1
Duplication
 1
 
 
1
Deletion
 3
 
 
1
Deletion-Duplication
 9
 
 
1
Deletion-Duplication
 1
 
 
1
Deletion-Duplication
 1
 
 
1
Deletion-Duplication
 15
 
 
1
Deletion
 1
 
 
1
Deletion
 2
 
 
1
Duplication
 5
 
 
1
Deletion
 9
 
 
1
Deletion
 1
 
 
1
Deletion
 1
 
 
1
Duplication
 2
 
 
1
Deletion-Duplication
 15
 
 
1
Duplication
 1
 
 
1
Duplication
 1
 
 
1
Deletion
 1
 
 
1
Deletion-Duplication
 2
 
 
1
Deletion-Duplication
 15
 
 
1
Deletion
 1
 
 
1
Deletion
 2
 
 
1
Deletion
 3
 
 
1
Deletion
 1
 
 
1
Deletion-Duplication
 1
 
 
1
Deletion-Duplication
 26
 
 
1
Duplication
 1
 
 
1
Deletion
 4
 
 
1
Deletion
 6
 
 
1
Deletion
 4
 
 
1
Deletion
 17
 
 
1
Deletion-Duplication
 63
 
 
1
Duplication
 44
 
 
1
Duplication
 1
 
 
1
Duplication
 1
 
 
1
Deletion-Duplication
 18
 
 
1
Duplication
 2
 
 
1
Deletion-Duplication
 23
 
 
1
Deletion
 3
 
 
1
Duplication
 1
 
 
1
Deletion-Duplication
 11
 
 
1
Duplication
 3
 
 
1
Deletion-Duplication
 11
 
 
1
Duplication
 1
 
 
1
Duplication
 1
 
 
1
Deletion
 1
 
 
1
Deletion-Duplication
 11
 
 
1
Deletion
 1
 
 
1
Deletion
 2
 
 
1
Deletion
 2
 
 
1
Deletion
 1
 
 
1
Duplication
 1
 
 
1
Deletion
 2
 
 
1
Deletion
 2
 
 
1
Deletion
 2
 
 
1
Deletion
 2
 
 
1
Deletion-Duplication
 13
 
 
1
Duplication
 1
 
 
1
Deletion
 2
 
 
1
Deletion
 1
 
 
1
Deletion-Duplication
 18
 
 
1
Deletion
 3
 
 
1
Deletion-Duplication
 19
 
 
1
Duplication
 2
 
 
1
Duplication
 1
 
 
1
Deletion-Duplication
 17
 
 
1
Deletion
 1
 
 
1
Deletion-Duplication
 19
 
 
1
Duplication
 3
 
 
1
Duplication
 1
 
 
1
Deletion
 2
 
 
1
Deletion-Duplication
 16
 
 
1
Deletion
 3
 
 
1
Deletion
 2
 
 
1
Duplication
 1
 
 
1
Duplication
 2
 
 
1
Deletion
 4
 
 
1
Deletion
 1
 
 
1
Duplication
 1
 
 
1
Deletion-Duplication
 13
 
 
1
Deletion
 7
 
 
1
Deletion
 2
 
 
1
Deletion-Duplication
 20
 
 
1
Deletion
 1
 
 
1
Deletion
 2
 
 
1
Deletion
 11
 
 
1
Duplication
 1
 
 
1
Deletion-Duplication
 27
 
 
1
Duplication
 10
 
 
1
Deletion-Duplication
 58
 
 
20
Deletion-Duplication
 13
 
 
20
Duplication
 5
 
 
20
Duplication
 1
 
 
20
Deletion-Duplication
 13
 
 
20
Deletion
 1
 
 
20
Deletion-Duplication
 43
 
 
20
Deletion
 1
 
 
20
Duplication
 1
 
 
20
Deletion-Duplication
 22
 
 
20
Duplication
 4
 
 
20
Deletion-Duplication
 33
 
 
20
Duplication
 1
 
 
20
Duplication
 1
 
 
20
Duplication
 1
 
 
20
Duplication
 3
 
 
20
Duplication
 1
 
 
20
Duplication
 1
 
 
20
Deletion-Duplication
 18
 
 
20
Duplication
 1
 
 
20
Deletion
 1
 
 
20
Duplication
 1
 
 
20
Deletion-Duplication
 7
 
 
20
Duplication
 2
 
 
20
Deletion-Duplication
 21
 
 
20
Duplication
 2
 
 
20
Deletion-Duplication
 2
 
 
20
Deletion-Duplication
 8
 
 
20
Duplication
 1
 
 
20
Deletion-Duplication
 14
 
 
20
Deletion-Duplication
 1
 
 
20
Duplication
 1
 
 
20
Deletion-Duplication
 15
 
 
20
Duplication
 1
 
 
20
Duplication
 1
 
 
20
Deletion-Duplication
 33
 
 
21
Duplication
 3
 
 
21
Deletion
 2
 
 
21
Deletion
 1
 
 
21
Duplication
 11
 
 
21
Deletion
 1
 
 
21
Duplication
 2
 
 
21
Deletion
 2
 
 
21
Deletion-Duplication
 16
 
 
21
Deletion-Duplication
 13
 
 
21
Deletion-Duplication
 1
 
 
21
Deletion
 1
 
 
21
Duplication
 4
 
 
21
Deletion
 2
 
 
21
Deletion-Duplication
 9
 
 
21
Deletion
 3
 
 
21
Deletion
 3
 
 
21
Deletion-Duplication
 8
 
 
21
Deletion
 5
 
 
21
Deletion-Duplication
 43
 
 
22
Deletion-Duplication
 1
 
 
22
Deletion-Duplication
 16
 
 
22
Duplication
 11
 
 
22
Duplication
 1
 
 
22
Duplication
 7
  construct
 
22
Duplication
 1
 
 
22
Deletion-Duplication
 111
  construct
 
22
Deletion-Duplication
 14
 
 
22
Deletion
 7
 
 
22
Duplication
 2
 
 
22
Deletion-Duplication
 26
 
 
22
Duplication
 13
 
 
22
Deletion-Duplication
 33
 
 
22
Duplication
 1
 
 
22
Deletion-Duplication
 3
 
 
22
Duplication
 2
 
 
22
Deletion-Duplication
 7
 
 
22
Deletion-Duplication
 23
 
 
22
Deletion
 4
 
 
22
Duplication
 1
 
 
22
Deletion-Duplication
 27
 
 
22
Duplication
 1
 
 
22
Duplication
 3
 
 
22
Deletion-Duplication
 16
 
 
22
Duplication
 1
 
 
22
Deletion-Duplication
 12
 
 
22
Deletion
 2
 
 
22
Deletion-Duplication
 16
 
 
22
Deletion-Duplication
 33
 
 
22
Duplication
 26
 
 
22
Deletion-Duplication
 74
 
 
2
Deletion-Duplication
 27
 
 
2
Duplication
 1
 
 
2
Deletion-Duplication
 20
 
 
2
Deletion-Duplication
 8
 
 
2
Deletion-Duplication
 10
 
 
2
Deletion
 8
 
 
2
Deletion
 2
 
 
2
Deletion
 1
 
 
2
Deletion
 3
 
 
2
Deletion-Duplication
 14
 
 
2
Deletion-Duplication
 18
 
 
2
Deletion-Duplication
 2
 
 
2
Deletion-Duplication
 20
 
 
2
Deletion
 1
 
 
2
Deletion
 10
 
 
2
Deletion-Duplication
 14
 
 
2
Deletion-Duplication
 81
 
 
2
Deletion-Duplication
 3
 
 
2
Deletion-Duplication
 28
 
 
2
Deletion
 5
 
 
2
Duplication
 1
 
 
2
Deletion-Duplication
 37
 
 
2
Duplication
 1
 
 
2
Deletion
 7
 
 
2
N/A
 2
 
 
2
Deletion
 13
 
 
2
Duplication
 1
 
 
2
Deletion-Duplication
 10
 
 
2
Deletion-Duplication
 8
 
 
2
Deletion-Duplication
 12
 
 
2
Deletion
 2
 
 
2
Deletion-Duplication
 7
 
 
2
Deletion
 4
 
 
2
Deletion-Duplication
 4
 
 
2
Deletion-Duplication
 45
 
 
2
Duplication
 1
 
 
2
Duplication
 1
 
 
2
Duplication
 1
 
 
2
Duplication
 3
 
 
2
Duplication
 4
 
 
2
Duplication
 8
 
 
2
Deletion
 3
 
 
2
Duplication
 1
 
 
2
Deletion-Duplication
 24
 
 
2
Duplication
 1
 
 
2
Duplication
 4
 
 
2
Deletion-Duplication
 1
 
 
2
Deletion
 1
 
 
2
Deletion
 2
 
 
2
Duplication
 2
 
 
2
Duplication
 1
 
 
2
Deletion-Duplication
 2
 
 
2
Deletion-Duplication
 46
 
 
2
Duplication
 1
 
 
2
Deletion-Duplication
 15
 
 
2
Duplication
 2
 
 
2
Deletion
 1
 
 
2
Deletion-Duplication
 14
 
 
2
Duplication
 1
 
 
2
Deletion-Duplication
 18
 
 
2
Duplication
 1
 
 
2
Duplication
 14
 
 
2
Duplication
 2
 
 
2
Deletion
 8
 
 
2
Deletion
 2
 
 
2
Deletion
 2
 
 
2
Duplication
 1
 
 
2
Duplication
 1
 
 
2
Deletion
 5
 
 
2
Deletion-Duplication
 4
 
 
2
Duplication
 1
 
 
2
Duplication
 1
 
 
2
Deletion
 7
 
 
2
Duplication
 2
 
 
2
Deletion
 5
 
 
2
Deletion
 1
 
 
2
Deletion-Duplication
 26
 
 
2
Deletion
 2
 
 
2
Deletion
 1
 
 
2
Deletion
 10
 
 
2
Deletion
 5
 
 
2
Deletion
 1
 
 
2
Deletion-Duplication
 16
 
 
2
Deletion-Duplication
 7
 
 
2
Deletion
 3
 
 
2
Deletion
 1
 
 
2
Deletion-Duplication
 17
 
 
2
Deletion
 5
 
 
2
Deletion
 1
 
 
2
Deletion
 19
 
 
2
Deletion
 3
 
 
2
Deletion
 1
 
 
2
Deletion-Duplication
 16
 
 
2
Deletion
 3
 
 
2
Deletion
 2
 
 
2
Deletion
 1
 
 
2
Deletion
 2
 
 
2
Deletion
 1
 
 
2
Deletion-Duplication
 17
 
 
2
Deletion
 1
 
 
2
Deletion
 1
 
 
2
Deletion-Duplication
 7
 
 
2
Deletion
 1
 
 
2
Duplication
 1
 
 
2
Deletion-Duplication
 27
 
 
2
Duplication
 2
 
 
2
Duplication
 1
 
 
2
Deletion-Duplication
 12
 
 
2
Duplication
 5
 
 
2
Duplication
 1
 
 
2
Deletion-Duplication
 24
 
 
2
Deletion
 2
 
 
2
Deletion
 3
 
 
2
Deletion
 3
 
 
2
Deletion
 1
 
 
2
Deletion
 1
 
 
2
Deletion-Duplication
 10
 
 
2
Deletion
 3
 
 
2
Deletion-Duplication
 25
 
 
2
Duplication
 3
 
 
2
Duplication
 1
 
 
2
Deletion-Duplication
 14
 
 
2
Deletion-Duplication
 1
 
 
2
Deletion
 2
 
 
2
Duplication
 2
 
 
2
Duplication
 1
 
 
2
Deletion
 5
 
 
2
Deletion
 1
 
 
2
Deletion-Duplication
 22
 
 
2
Deletion
 1
 
 
2
Deletion-Duplication
 2
 
 
2
Deletion-Duplication
 20
 
 
2
Duplication
 1
 
 
2
Deletion
 10
 
 
2
Deletion-Duplication
 9
 
 
2
Deletion
 9
 
 
2
Deletion-Duplication
 59
 
 
3
Deletion-Duplication
 8
 
 
3
Deletion-Duplication
 11
 
 
3
Deletion
 2
 
 
3
Deletion
 1
 
 
3
Duplication
 2
 
 
3
Deletion-Duplication
 23
 
 
3
Deletion
 2
 
 
3
Deletion
 2
 
 
3
Duplication
 2
 
 
3
Deletion
 12
 
 
3
Deletion
 1
 
 
3
Deletion
 1
 
 
3
Deletion-Duplication
 21
 
 
3
Deletion
 2
 
 
3
Deletion
 11
 
 
3
Deletion-Duplication
 29
 
 
3
Deletion
 1
 
 
3
Deletion
 8
 
 
3
Deletion-Duplication
 15
 
 
3
Deletion
 1
 
 
3
Duplication
 4
 
 
3
Deletion
 7
 
 
3
Deletion
 2
 
 
3
Deletion
 2
 
 
3
Deletion
 3
 
 
3
Deletion-Duplication
 17
 
 
3
Deletion
 1
 
 
3
Duplication
 1
 
 
3
Deletion
 13
 
 
3
Deletion
 1
 
 
3
Deletion
 1
 
 
3
Duplication
 1
 
 
3
Deletion-Duplication
 8
 
 
3
Deletion
 8
 
 
3
Deletion-Duplication
 18
 
 
3
Deletion-Duplication
 1
 
 
3
Deletion
 2
 
 
3
Deletion
 6
 
 
3
Deletion-Duplication
 20
 
 
3
Duplication
 1
 
 
3
Deletion
 3
 
 
3
Deletion-Duplication
 23
 
 
3
Deletion
 1
 
 
3
Duplication
 3
 
 
3
Deletion-Duplication
 17
 
 
3
N/A
 2
 
 
3
Deletion-Duplication
 63
 
 
3
Duplication
 1
 
 
3
Duplication
 1
 
 
3
Duplication
 1
 
 
3
Duplication
 2
 
 
3
Deletion
 3
 
 
3
Deletion
 4
 
 
3
Duplication
 14
 
 
3
Duplication
 1
 
 
3
Duplication
 1
 
 
3
Deletion-Duplication
 9
 
 
3
Duplication
 2
 
 
3
Deletion
 1
 
 
3
Deletion-Duplication
 4
 
 
3
Deletion
 2
 
 
3
Deletion
 1
 
 
3
Deletion-Duplication
 2
 
 
3
Deletion
 1
 
 
3
Deletion
 1
 
 
3
Deletion
 2
 
 
3
Deletion
 2
 
 
3
Deletion
 1
 
 
3
Deletion
 7
 
 
3
Deletion
 1
 
 
3
Deletion-Duplication
 17
 
 
3
Deletion
 2
 
 
3
Deletion-Duplication
 6
 
 
3
Deletion
 1
 
 
3
Deletion-Duplication
 8
 
 
3
Deletion-Duplication
 5
 
 
3
Duplication
 1
 
 
3
Deletion-Duplication
 16
 
 
3
Deletion
 1
 
 
3
Deletion
 1
 
 
3
Duplication
 4
 
 
3
Deletion
 1
 
 
3
Deletion-Duplication
 16
 
 
3
Duplication
 1
 
 
3
Deletion-Duplication
 18
 
 
3
Deletion
 1
 
 
3
Deletion-Duplication
 13
 
 
3
Duplication
 1
 
 
3
Duplication
 3
 
 
3
Deletion
 1
 
 
3
Deletion
 8
 
 
3
Deletion
 1
 
 
3
Deletion
 8
 
 
3
Duplication
 2
 
 
3
Duplication
 1
 
 
3
Duplication
 1
 
 
3
Duplication
 1
 
 
3
Duplication
 3
 
 
3
Deletion-Duplication
 21
 
 
3
Deletion
 2
 
 
3
Duplication
 1
 
 
3
Deletion-Duplication
 16
 
 
3
Deletion-Duplication
 5
 
 
3
Duplication
 2
 
 
3
Deletion-Duplication
 8
 
 
3
Deletion
 1
 
 
3
Deletion
 2
 
 
3
Deletion
 8
 
 
3
Deletion
 1
 
 
3
Deletion
 4
 
 
3
Deletion-Duplication
 6
 
 
3
Deletion
 4
 
 
3
Duplication
 5
 
 
3
Deletion-Duplication
 69
 
 
4
Duplication
 2
 
 
4
Deletion-Duplication
 7
 
 
4
Duplication
 3
 
 
4
Duplication
 1
 
 
4
Duplication
 1
 
 
4
Duplication
 1
 
 
4
Duplication
 1
 
 
4
Deletion
 7
 
 
4
Deletion
 1
 
 
4
Duplication
 2
 
 
4
Deletion-Duplication
 26
 
 
4
Deletion
 9
 
 
4
Deletion
 3
 
 
4
Deletion-Duplication
 39
 
 
4
Duplication
 1
 
 
4
Duplication
 2
 
 
4
Deletion-Duplication
 2
 
 
4
Duplication
 2
 
 
4
Deletion
 3
 
 
4
Deletion
 1
 
 
4
Duplication
 16
 
 
4
Duplication
 6
 
 
4
Deletion
 1
 
 
4
Duplication
 1
 
 
4
Duplication
 1
 
 
4
Duplication
 1
 
 
4
Deletion-Duplication
 24
 
 
4
Duplication
 3
 
 
4
Deletion
 1
 
 
4
Duplication
 4
 
 
4
Deletion
 1
 
 
4
Deletion
 1
 
 
4
Deletion-Duplication
 30
 
 
4
Deletion-Duplication
 3
 
 
4
Deletion
 1
 
 
4
Deletion-Duplication
 23
 
 
4
Duplication
 1
 
 
4
Duplication
 1
 
 
4
Deletion
 1
 
 
4
Deletion
 1
 
 
4
Deletion
 1
 
 
4
Deletion
 1
 
 
4
Deletion
 2
 
 
4
Deletion
 1
 
 
4
Deletion
 1
 
 
4
Deletion
 3
 
 
4
Deletion
 1
 
 
4
Deletion
 1
 
 
4
Deletion
 5
 
 
4
Deletion
 1
 
 
4
Deletion-Duplication
 25
 
 
4
Duplication
 4
 
 
4
Deletion-Duplication
 15
 
 
4
Duplication
 1
 
 
4
Deletion-Duplication
 13
 
 
4
Deletion-Duplication
 2
 
 
4
Duplication
 1
 
 
4
Deletion-Duplication
 12
 
 
4
Deletion-Duplication
 2
 
 
4
Deletion-Duplication
 12
 
 
4
Duplication
 2
 
 
4
Deletion-Duplication
 18
 
 
4
Duplication
 8
 
 
4
Deletion-Duplication
 12
 
 
4
Deletion
 1
 
 
4
Duplication
 1
 
 
4
Duplication
 1
 
 
4
Duplication
 2
 
 
4
Deletion
 1
 
 
4
Deletion-Duplication
 19
 
 
4
Deletion
 2
 
 
4
Deletion-Duplication
 7
 
 
4
Duplication
 1
 
 
4
Duplication
 1
 
 
4
Duplication
 1
 
 
4
Deletion-Duplication
 5
 
 
4
Deletion
 1
 
 
4
Deletion-Duplication
 9
 
 
4
Duplication
 1
 
 
4
Duplication
 2
 
 
4
Deletion-Duplication
 15
 
 
4
Deletion
 1
 
 
4
Deletion
 1
 
 
4
Deletion-Duplication
 17
 
 
4
Duplication
 1
 
 
4
Deletion
 1
 
 
4
Deletion
 1
 
 
4
Duplication
 3
 
 
4
Deletion
 1
 
 
4
Deletion-Duplication
 1
 
 
4
Deletion
 4
 
 
4
Deletion-Duplication
 3
 
 
4
Duplication
 7
 
 
4
Deletion
 1
 
 
4
Deletion-Duplication
 1
 
 
4
Deletion-Duplication
 13
 
 
4
Deletion-Duplication
 12
 
 
4
Deletion-Duplication
 48
 
 
5
Deletion-Duplication
 10
 
 
5
Deletion-Duplication
 6
 
 
5
Duplication
 1
 
 
5
Deletion-Duplication
 20
 
 
5
Duplication
 1
 
 
5
Duplication
 2
 
 
5
Duplication
 1
 
 
5
Duplication
 1
 
 
5
Duplication
 1
 
 
5
Deletion-Duplication
 9
 
 
5
Duplication
 1
 
 
5
Duplication
 1
 
 
5
Deletion
 2
 
 
5
Deletion
 1
 
 
5
Deletion
 5
 
 
5
Deletion-Duplication
 37
 
 
5
Deletion
 1
 
 
5
Duplication
 4
 
 
5
Deletion-Duplication
 10
 
 
5
Deletion
 4
 
 
5
Duplication
 2
 
 
5
Deletion-Duplication
 36
 
 
5
Duplication
 1
 
 
5
Duplication
 2
 
 
5
Deletion
 1
 
 
5
Deletion
 2
 
 
5
Deletion
 3
 
 
5
Deletion
 4
 
 
5
Deletion
 10
 
 
5
Deletion
 4
 
 
5
Deletion
 4
 
 
5
Deletion
 1
 
 
5
Deletion
 1
 
 
5
Deletion
 1
 
 
5
Deletion-Duplication
 15
 
 
5
Deletion
 3
 
 
5
Duplication
 1
 
 
5
Deletion-Duplication
 10
 
 
5
Deletion
 1
 
 
5
Deletion-Duplication
 15
 
 
5
Duplication
 4
 
 
5
Duplication
 1
 
 
5
Deletion-Duplication
 18
 
 
5
Duplication
 1
 
 
5
Deletion
 1
 
 
5
Deletion-Duplication
 21
 
 
5
Deletion-Duplication
 2
 
 
5
Deletion
 1
 
 
5
Deletion
 1
 
 
5
Deletion
 2
 
 
5
Deletion-Duplication
 19
 
 
5
Duplication
 2
 
 
5
Duplication
 1
 
 
5
Deletion
 1
 
 
5
Deletion
 1
 
 
5
Deletion-Duplication
 12
 
 
5
Deletion
 2
 
 
5
Deletion
 1
 
 
5
Deletion-Duplication
 12
 
 
5
Deletion-Duplication
 14
 
 
5
Duplication
 3
 
 
5
Deletion
 1
 
 
5
Deletion-Duplication
 10
 
 
5
Deletion
 3
 
 
5
Deletion
 2
 
 
5
Duplication
 1
 
 
5
Deletion-Duplication
 9
 
 
5
Deletion
 2
 
 
5
Deletion-Duplication
 8
 
 
5
Duplication
 3
 
 
5
Deletion
 1
 
 
5
Deletion-Duplication
 9
 
 
5
Deletion-Duplication
 12
 
 
5
Duplication
 1
 
 
5
Deletion
 1
 
 
5
Deletion
 1
 
 
5
Duplication
 1
 
 
5
Deletion-Duplication
 7
 
 
5
Deletion
 1
 
 
5
Deletion-Duplication
 8
 
 
5
Deletion
 1
 
 
5
Duplication
 1
 
 
5
Deletion-Duplication
 15
 
 
5
Duplication
 13
 
 
5
Deletion-Duplication
 37
 
 
6
Duplication
 2
 
 
6
Deletion
 1
 
 
6
Deletion-Duplication
 16
 
 
6
Deletion-Duplication
 12
 
 
6
Deletion-Duplication
 1
 
 
6
Deletion-Duplication
 10
 
 
6
Deletion
 1
 
 
6
Deletion
 1
 
 
6
Deletion-Duplication
 12
 
 
6
Deletion-Duplication
 26
 
 
6
Deletion-Duplication
 15
 
 
6
Deletion-Duplication
 2
 
 
6
Deletion-Duplication
 20
 
 
6
Duplication
 2
 
 
6
Deletion-Duplication
 11
 
 
6
Deletion-Duplication
 27
 
 
6
Deletion
 1
 
 
6
Deletion
 7
 
 
6
Deletion
 3
 
 
6
Deletion
 4
 
 
6
Deletion
 2
 
 
6
Deletion
 4
 
 
6
Deletion
 1
 
 
6
Deletion
 1
 
 
6
Deletion
 12
 
 
6
Deletion
 1
 
 
6
Deletion
 1
 
 
6
Duplication
 1
 
 
6
Deletion-Duplication
 22
 
 
6
Deletion
 1
 
 
6
Duplication
 1
 
 
6
Duplication
 2
 
 
6
Deletion
 3
 
 
6
Deletion
 4
 
 
6
Duplication
 5
 
 
6
Deletion-Duplication
 9
 
 
6
Duplication
 2
 
 
6
Deletion
 2
 
 
6
Deletion-Duplication
 17
 
 
6
Duplication
 4
 
 
6
Deletion
 2
 
 
6
Deletion
 1
 
 
6
Deletion
 1
 
 
6
Deletion
 9
 
 
6
Deletion
 6
 
 
6
Deletion
 1
 
 
6
Deletion
 1
 
 
6
Deletion-Duplication
 25
 
 
6
Deletion
 1
 
 
6
Deletion
 2
 
 
6
Deletion
 3
 
 
6
Deletion
 1
 
 
6
Duplication
 3
 
 
6
Deletion
 1
 
 
6
Deletion-Duplication
 13
 
 
6
Duplication
 1
 
 
6
Deletion
 1
 
 
6
Deletion-Duplication
 16
 
 
6
Deletion
 1
 
 
6
Deletion
 2
 
 
6
Deletion
 5
 
 
6
Deletion
 1
 
 
6
Deletion
 1
 
 
6
Deletion
 1
 
 
6
Deletion-Duplication
 16
 
 
6
Deletion
 2
 
 
6
Deletion-Duplication
 23
 
 
6
Deletion
 2
 
 
6
Deletion
 1
 
 
6
Deletion
 1
 
 
6
Deletion-Duplication
 6
 
 
6
Deletion
 1
 
 
6
Deletion
 1
 
 
6
N/A
 1
 
 
6
Deletion
 1
 
 
6
Deletion-Duplication
 24
 
 
6
Deletion
 2
 
 
6
Deletion-Duplication
 5
 
 
6
Deletion
 1
 
 
6
Deletion-Duplication
 9
 
 
6
Deletion
 2
 
 
6
Duplication
 1
 
 
6
Duplication
 5
 
 
6
Deletion
 1
 
 
6
Deletion
 1
 
 
6
Deletion
 11
 
 
6
Deletion
 1
 
 
6
Duplication
 1
 
 
6
Deletion
 10
 
 
6
Deletion
 1
 
 
6
Deletion-Duplication
 7
 
 
6
Deletion
 4
 
 
6
Deletion
 3
 
 
6
Deletion-Duplication
 21
 
 
6
Deletion
 2
 
 
6
Deletion-Duplication
 2
 
 
6
Deletion-Duplication
 48
 
 
6
Deletion
 9
 
 
6
Deletion-Duplication
 33
 
 
7
Duplication
 16
 
 
7
Deletion-Duplication
 1
 
 
7
Duplication
 3
 
 
7
Duplication
 1
 
 
7
Deletion
 2
 
 
7
Duplication
 1
 
 
7
Deletion-Duplication
 15
 
 
7
Duplication
 1
 
 
7
Deletion
 9
 
 
7
Deletion-Duplication
 22
 
 
7
Deletion-Duplication
 2
 
 
7
Deletion-Duplication
 20
 
 
7
Duplication
 1
 
 
7
Duplication
 1
 
 
7
Deletion-Duplication
 13
 
 
7
Deletion
 2
 
 
7
Deletion-Duplication
 12
 
 
7
Deletion
 1
 
 
7
Deletion-Duplication
 28
 
 
7
Duplication
 1
 
 
7
Deletion
 3
 
 
7
Deletion-Duplication
 12
 
 
7
Deletion
 1
 
 
7
Deletion
 1
 
 
7
Deletion-Duplication
 30
 
 
7
Deletion
 1
 
 
7
Deletion
 1
 
 
7
Deletion-Duplication
 22
 
 
7
Duplication
 4
 
 
7
Deletion-Duplication
 20
 
 
7
Duplication
 1
 
 
7
Duplication
 1
 
 
7
Duplication
 7
 
 
7
Deletion-Duplication
 19
 
 
7
Duplication
 1
 
 
7
Duplication
 1
 
 
7
Duplication
 1
 
 
7
Duplication
 2
 
 
7
Deletion-Duplication
 1
 
 
7
Deletion
 5
 
 
7
Deletion
 2
 
 
7
Deletion-Duplication
 3
 
 
7
Deletion
 1
 
 
7
Deletion-Duplication
 40
 
 
7
Duplication
 9
 
 
7
Deletion
 2
 
 
7
Deletion-Duplication
 78
  construct
 
7
Deletion
 3
 
 
7
Deletion-Duplication
 24
 
 
7
Duplication
 3
 
 
7
Deletion
 2
 
 
7
Deletion
 7
 
 
7
Deletion-Duplication
 16
 
 
7
Duplication
 2
 
 
7
Deletion-Duplication
 28
 
 
7
Deletion-Duplication
 1
 
 
7
Deletion
 1
 
 
7
Deletion
 1
 
 
7
Deletion
 1
 
 
7
Deletion
 13
 
 
7
Deletion
 1
 
 
7
Deletion-Duplication
 45
 
 
7
Deletion
 2
 
 
7
Deletion
 3
 
 
7
Deletion
 3
 
 
7
Deletion
 1
 
 
7
Deletion-Duplication
 10
 
 
7
Duplication
 1
 
 
7
Deletion-Duplication
 12
 
 
7
Deletion
 1
 
 
7
Deletion
 1
 
 
7
Deletion
 10
 
 
7
Deletion-Duplication
 19
 
 
7
Duplication
 4
 
 
7
Deletion
 2
 
 
7
Deletion-Duplication
 9
 
 
7
Duplication
 1
 
 
7
Duplication
 1
 
 
7
Deletion
 2
 
 
7
Deletion
 7
 
 
7
Duplication
 2
 
 
7
Deletion
 1
 
 
7
Duplication
 1
 
 
7
Deletion-Duplication
 17
 
 
7
Deletion
 1
 
 
7
Deletion
 2
 
 
7
Deletion
 1
 
 
7
Duplication
 1
 
 
7
Deletion-Duplication
 20
 
 
7
Deletion
 1
 
 
7
Deletion
 1
 
 
7
Deletion
 4
 
 
7
Deletion-Duplication
 49
 
 
7
Deletion-Duplication
 5
 
 
7
Deletion
 2
 
 
7
Deletion-Duplication
 31
 
 
7
Duplication
 9
 
 
7
Deletion
 7
 
 
7
Deletion-Duplication
 27
 
 
7
Deletion
 3
 
 
7
Deletion-Duplication
 30
 
 
8
Duplication
 1
 
 
8
Deletion
 9
 
 
8
Duplication
 8
 
 
8
Duplication
 1
 
 
8
Duplication
 1
 
 
8
Duplication
 2
 
 
8
Duplication
 2
 
 
8
Duplication
 2
 
 
8
Deletion-Duplication
 8
 
 
8
Duplication
 1
 
 
8
Deletion-Duplication
 5
 
 
8
Duplication
 1
 
 
8
Deletion-Duplication
 14
 
 
8
Duplication
 1
 
 
8
Deletion-Duplication
 2
 
 
8
Duplication
 1
 
 
8
Duplication
 1
 
 
8
Deletion
 1
 
 
8
Duplication
 1
 
 
8
Deletion-Duplication
 9
 
 
8
Deletion
 2
 
 
8
Duplication
 1
 
 
8
Deletion-Duplication
 14
 
 
8
Duplication
 1
 
 
8
Deletion
 1
 
 
8
Deletion-Duplication
 44
 
 
8
Deletion-Duplication
 8
 
 
8
Duplication
 1
 
 
8
Deletion-Duplication
 47
 
 
8
Duplication
 5
 
 
8
Duplication
 3
 
 
8
Duplication
 5
 
 
8
Duplication
 2
 
 
8
Duplication
 2
 
 
8
Duplication
 2
 
 
8
Duplication
 5
 
 
8
Deletion-Duplication
 38
 
 
8
Deletion-Duplication
 11
 
 
8
Deletion-Duplication
 37
 
 
8
Duplication
 1
 
 
8
Duplication
 1
 
 
8
Deletion
 3
 
 
8
Duplication
 6
 
 
8
Deletion
 27
 
 
8
Duplication
 12
 
 
8
Duplication
 1
 
 
8
Deletion
 1
 
 
8
Duplication
 3
 
 
8
Duplication
 9
 
 
8
Deletion-Duplication
 22
 
 
8
Deletion-Duplication
 13
 
 
8
Deletion
 1
 
 
8
Duplication
 1
 
 
8
Deletion
 2
 
 
8
Deletion
 2
 
 
8
Deletion
 2
 
 
8
Deletion
 1
 
 
8
Duplication
 1
 
 
8
Deletion-Duplication
 10
 
 
8
Deletion
 3
 
 
8
Deletion
 1
 
 
8
Deletion
 1
 
 
8
Deletion
 1
 
 
8
Deletion-Duplication
 10
 
 
8
Deletion
 1
 
 
8
Deletion-Duplication
 12
 
 
8
Duplication
 3
 
 
8
Duplication
 1
 
 
8
Deletion-Duplication
 14
 
 
8
Deletion
 2
 
 
8
Deletion-Duplication
 15
 
 
8
Duplication
 1
 
 
8
Deletion
 15
 
 
8
Duplication
 4
 
 
8
Deletion-Duplication
 18
 
 
8
Duplication
 2
 
 
8
Deletion
 2
 
 
8
Deletion
 9
 
 
8
Deletion
 2
 
 
8
Deletion
 1
 
 
8
Duplication
 3
 
 
8
Deletion
 4
 
 
8
Deletion
 2
 
 
8
Deletion-Duplication
 15
 
 
8
Duplication
 3
 
 
8
Deletion
 2
 
 
8
Deletion
 1
 
 
8
Duplication
 2
 
 
8
Deletion-Duplication
 8
 
 
8
Deletion
 3
 
 
8
Deletion-Duplication
 12
 
 
8
Duplication
 1
 
 
8
Deletion-Duplication
 39
 
 
9
Deletion
 4
 
 
9
Deletion-Duplication
 3
 
 
9
Duplication
 1
 
 
9
Duplication
 7
 
 
9
Deletion-Duplication
 12
 
 
9
Deletion
 2
 
 
9
Duplication
 1
 
 
9
Duplication
 2
 
 
9
Duplication
 2
 
 
9
Deletion
 7
 
 
9
Deletion-Duplication
 16
 
 
9
Duplication
 9
 
 
9
Deletion
 2
 
 
9
Deletion
 3
 
 
9
Deletion-Duplication
 11
 
 
9
N/A
 1
 
 
9
Duplication
 1
 
 
9
Duplication
 1
 
 
9
Duplication
 1
 
 
9
Deletion
 3
 
 
9
Deletion
 4
 
 
9
Deletion
 2
 
 
9
Deletion-Duplication
 32
 
 
9
Duplication
 3
 
 
9
Deletion-Duplication
 14
 
 
9
Duplication
 3
 
 
9
Deletion-Duplication
 40
 
 
9
Duplication
 7
 
 
9
Duplication
 3
 
 
9
Duplication
 2
 
 
9
Duplication
 4
 
 
9
Deletion
 3
 
 
9
N/A
 5
 
 
9
Deletion
 10
 
 
9
Deletion
 7
 
 
9
Deletion-Duplication
 13
 
 
9
Duplication
 3
 
 
9
Duplication
 1
 
 
9
Deletion
 1
 
 
9
Deletion
 2
 
 
9
Deletion-Duplication
 7
 
 
9
Deletion
 4
 
 
9
Deletion
 2
 
 
9
Deletion
 4
 
 
9
Deletion
 1
 
 
9
Deletion-Duplication
 3
 
 
9
Deletion
 1
 
 
9
Deletion
 1
 
 
9
Deletion-Duplication
 15
 
 
9
Deletion
 1
 
 
9
Deletion
 3
 
 
9
N/A
 2
 
 
9
Deletion
 5
 
 
9
Deletion-Duplication
 7
 
 
9
Deletion
 1
 
 
9
Duplication
 1
 
 
9
Duplication
 2
 
 
9
Duplication
 3
 
 
9
Deletion-Duplication
 1
 
 
9
Duplication
 1
 
 
9
Duplication
 1
 
 
9
Deletion-Duplication
 7
 
 
9
Deletion
 2
 
 
9
Deletion-Duplication
 20
 
 
9
N/A
 2
 
 
9
Deletion-Duplication
 8
 
 
9
Deletion-Duplication
 7
 
 
9
Deletion-Duplication
 21
 
 
9
Deletion-Duplication
 30
 
 
9
Duplication
 1
 
 
9
Deletion
 1
 
 
9
Deletion-Duplication
 10
 
 
9
Duplication
 1
 
 
9
Deletion-Duplication
 6
 
 
9
Deletion
 4
 
 
9
Duplication
 1
 
 
9
Deletion-Duplication
 16
 
 
9
Deletion
 1
 
 
9
Deletion
 1
 
 
9
Duplication
 1
 
 
9
Deletion
 4
 
 
9
Deletion-Duplication
 10
 
 
9
N/A
 2
 
 
9
Duplication
 2
 
 
9
Deletion-Duplication
 12
 
 
9
Deletion-Duplication
 9
 
 
9
Deletion-Duplication
 45
 
 
9
Deletion
 1
 
 
X
Deletion-Duplication
 3
 
 
X
Deletion
 1
 
 
X
Duplication
 1
 
 
X
Duplication
 1
 
 
X
Deletion-Duplication
 25
 
 
X
Duplication
 1
 
 
X
Deletion-Duplication
 13
 
 
X
Duplication
 1
 
 
X
Duplication
 7
 
 
X
Deletion-Duplication
 19
 
 
X
Duplication
 1
 
 
X
Deletion-Duplication
 31
 
 
X
Deletion
 1
 
 
X
Deletion
 5
 
 
X
Deletion-Duplication
 29
 
 
X
Duplication
 5
 
 
X
Deletion
 20
 
 
X
Deletion
 4
 
 
X
Deletion-Duplication
 12
 
 
X
Deletion
 1
 
 
X
Duplication
 7
 
 
X
Deletion-Duplication
 18
 
 
X
Deletion
 1
 
 
X
Duplication
 2
 
 
X
Deletion-Duplication
 15
 
 
X
Deletion
 8
 
 
X
Deletion
 1
 
 
X
Deletion-Duplication
 21
 
 
X
Duplication
 6
 
 
X
Deletion-Duplication
 45
 
 
X
Deletion-Duplication
 1
 
 
X
Deletion-Duplication
 11
 
 
X
Duplication
 2
 
 
X
Deletion-Duplication
 3
 
 
X
Deletion-Duplication
 46
 
 
X
Deletion
 2
 
 
X
Deletion
 4
 
 
X
Deletion-Duplication
 1
 
 
X
Deletion
 1
 
 
X
Duplication
 1
 
 
X
Duplication
 2
 
 
X
Deletion
 4
 
 
X
Deletion
 1
 
 
X
Duplication
 5
 
 
X
Deletion
 7
 
 
X
Duplication
 5
 
 
X
Deletion
 1
 
 
X
Deletion-Duplication
 21
 
 
X/Y
Duplication
 5
 
 
X/Y
Duplication
 2
 
 
X
Deletion-Duplication
 8
 
 
X
Deletion
 2
 
 
X
Duplication
 2
 
 
X
Deletion
 2
 
 
X
Duplication
 1
 
 
X
Deletion-Duplication
 12
 
 
X
Duplication
 2
 
 
X
Duplication
 2
 
 
X
Duplication
 1
 
 
X
Deletion-Duplication
 15
 
 
X
Duplication
 1
 
 
X
Duplication
 1
 
 
X
Duplication
 8
 
 
X
Duplication
 5
 
 
X
Duplication
 1
 
 
X
Deletion
 12
 
 
X
Deletion-Duplication
 16
 
 
X
Deletion
 1
 
 
X
Deletion
 2
 
 
X
Deletion
 1
 
 
X
Deletion
 1
 
 
X
Duplication
 1
 
 
X
Deletion
 4
 
 
X
Duplication
 5
 
 
X
Duplication
 1
 
 
X
Deletion
 1
 
 
X
Deletion-Duplication
 15
 
 
X
Deletion
 3
 
 
X
Duplication
 1
 
 
X
Deletion
 1
 
 
X
Duplication
 8
 
 
X
Duplication
 3
 
 
X
Deletion-Duplication
 1
 
 
X
Deletion
 1
 
 
X
Deletion-Duplication
 14
 
 
X
Deletion-Duplication
 13
 
 
X
Deletion-Duplication
 18
 
 
X
Deletion
 1
 
 
X
Deletion-Duplication
 13
 
 
X
Deletion
 5
 
 
X
Deletion-Duplication
 22
 
 
X
Duplication
 2
 
 
X
Deletion-Duplication
 1
 
 
X
Deletion-Duplication
 13
 
 
X
Deletion-Duplication
 12
 
 
X
Duplication
 2
 
 
X
Deletion
 2
 
 
X
Deletion-Duplication
 8
 
 
X
Duplication
 4
 
 
X
Deletion-Duplication
 1
 
 
X
Deletion-Duplication
 9
 
 
X
Deletion
 1
 
 
X
Deletion-Duplication
 13
 
 
X
Deletion
 10
 
 
X
Deletion-Duplication
 78
 
 
Y
Duplication
 1
 
 
Y
Duplication
 1
 
 
Y
Duplication
 1
 
 
Y
Duplication
 1
 
 
Y
Duplication
 2
 
 
Y
Deletion-Duplication
 1
 
 
Y
Duplication
 1
 
 
Y
Duplication
 1
 
 
Y
Duplication
 1
 
 
Y
Duplication
 8
 
 
Y
Duplication
 1
 
 
Y
Duplication
 1
 
 
Y
Duplication
 2
 
 
Y
Duplication
 1
 
 
Y
Deletion
 1
 
 
Y
Duplication
 3
 
 
Y
Deletion
 2
 

 

Animal Model Search Results

Gene Symbol
Gene Name
Model Species
Syntenic
Primary Reference
Number of Reports
Number of Models
 
  CG1718
 CG1718
 Drosophila melanogaster
 
 1
 3
 
  Actl6b
 actin-like 6B [Mus musculus
 Mus musculus
 NA
 1
 3
 
  Adnp
 Activity-dependent neuroprotective protein
 Mus musculus
 
 9
 16
 
 Adenosine A2a receptor
 Mus musculus
 Unknown
 2
 2
 
  Ahi1
 Abelson helper integration site 1
 Mus musculus
 Unknown
 4
 5
 
 Aldehyde Dehydrogenase family 5, subfamily A1
 Mus musculus
 Unknown
 1
 4
 
  Ambra1
 autophagy and beclin 1 regulator 1
 Mus musculus
 11p11.2
 3
 4
 
  Ank2
 ankyrin 2, brain
 Mus musculus
 
 4
 15
 
 ankyrin repeat domain 11
 Mus musculus
 Unknown
 2
 3
 
  Anks1b
 ankyrin repeat and sterile alpha motif domain containing 1B
 Mus musculus
 
 2
 8
 
  Apba2
 amyloid beta (A4) precursor protein-binding, family A, member 2
 Mus musculus
 Unknown
 1
 2
 
  Apc
 adenomatosis polyposis coli
 Mus musculus
 
 1
 2
 
  App
 amyloid beta (A4) precursor protein
 Mus musculus
 
 1
 1
 
 Rho GTPase activating protein 32
 Mus musculus
 
 1
 3
 
 Rho GTPase activating protein 33
 Mus musculus
 
 1
 6
 
 Rho guanine nucleotide exchange factor (GEF) 10
 Mus musculus
 
 1
 1
 
  Arid1b
 AT rich interactive domain 1B (SWI-like)
 Mus musculus
 
 6
 18
 
  arnt2
 aryl-hydrocarbon receptor nuclear translocator 2
 Danio rerio
 
 1
 1
 
  arxa
 aristaless related homeobox a
 Danio rerio
 Yes, in zebrafish, the synteny block (PDK3-PCYT1B-POLA1-ARX) is split into pdk3a-pcyt1ba and pola1-arxa.
 1
 4
 
  Arx
 aristaless related homeobox
 Mus musculus
 Unknown
 4
 5
 
  ash1
 absent, small, or homeotic discs 1
 Drosophila melanogaster
 
 1
 2
 
  Ash1l
 ash1 (absent, small, or homeotic)-like
 Mus musculus
 
 6
 13
 
  Aspm
 assembly factor for spindle microtubules
 Mus musculus
 NA
 1
 1
 
  Atg7
 Autophagy related 7
 Mus musculus
 
 1
 2
 
  Atp1a3
 Sodium potassium ATPase alpha 3 subunit
 Mus musculus
 Unknown
 1
 2
 
  Atp2b2
 ATPase, Ca++ transporting, plasma membrane 2
 Mus musculus
 
 1
 1
 
  Atp8a1
 ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1
 Mus musculus
 Chromosome 4 (human)
 1
 2
 
  Atrnl1
 Attractin like 1
 Mus musculus
 Unknown
 1
 3
 
  Atrx
 ATRX, chromatin remodeler
 Mus musculus
 
 1
 1
 
  auts2a
 autism susceptibility candidate 2a
 Danio rerio
 
 2
 9
 
  Auts2
 Autism susceptibility candidate 2
 Mus musculus
 
 4
 21
 
  Avp
 arginine vasopressin
 Rattus norvegicus
 
 1
 6
 
  Avpr1a
 Arginine vasopressin receptor 1A
 Mus musculus
 Unknown
 3
 2
 
  Baiap2
 brain-specific angiogenesis inhibitor 1-associated protein 2
 Mus musculus
 Unknown
 3
 7
 
  Bckdk
 branched chain ketoacid dehydrogenase kinase
 Mus musculus
 
 3
 3
 
  Bckdk
 branched chain ketoacid dehydrogenase kinase
 Rattus norvegicus
 
 1
 1
 
  Bcl11a
 B cell CLL/lymphoma 11A (zinc finger protein)
 Mus musculus
 2p16.1
 3
 4
 
  Bdnf
 brain derived neurotrophic factor
 Mus musculus
 
 1
 1
 
  Brinp1
 BMP/RA-inducible neural-specific protein 1
 Mus musculus
 Unknown
 2
 3
 
  Brinp3
 BMP/retinoic acid inducible neural specific 3
 Mus musculus
 NA
 1
 1
 
  cac
 cacophony
 Drosophila melanogaster
 
 1
 4
 
 calcium channel, voltage-dependent, L type, alpha 1C subunit
 Danio rerio
 12p13.33
 1
 6
 
 calcium channel, voltage-dependent, L type, alpha 1C subunit
 Mus musculus
 Unknown
 8
 13
 
 calcium voltage-gated channel subunit alpha1 C
 Rattus norvegicus
 Unknown
 2
 1
 
 calcium channel, voltage-dependent, L type, alpha 1D subunit
 Mus musculus
 
 2
 6
 
 Calcium channel, voltage dependent, alpha 1F subunit
 Mus musculus
 
 1
 1
 
 Calcium channel, voltage dependent, T type, alpha 1G subunit
 Mus musculus
 Unknown
 5
 7
 
 calcium channel, voltage-dependent, T type, alpha 1H subunit
 Mus musculus
 Unknown
 1
 1
 
  stj
 straightjacket
 Drosophila melanogaster
 
 1
 6
 
 calcium channel, voltage-dependent, alpha2/delta subunit 3
 Mus musculus
 3p21.1-p14.3
 1
 2
 
  Cadm1
 cell adhesion molecule 1
 Mus musculus
 Unknown
 2
 4
 
  Cadps2
 Ca2+-dependent activator protein for secretion 2
 Mus musculus
 Yes
 5
 5
 
  Camk2a
 calcium/calmodulin-dependent protein kinase II alpha
 Mus musculus
 
 1
 2
 
 RNA granule protein 105 (Caprin 1)
 Mus musculus
 Unknown
 1
 2
 
 CASK interacting protein 1
 Mus musculus
 
 1
 1
 
  Cbln1
 Cerebellin 1 precursor protein
 Mus musculus
 
 3
 7
 
  Cc2d1a
 Coiled-coil and C2 domain containing 1A
 Mus musculus
 
 2
 10
 
  Cd38
 CD38 antigen
 Mus musculus
 Unknown
 3
 2
 
  Cdkl5
 cyclin-dependent kinase-like 5
 Mus musculus
 
 3
 10
 
  Celf4
 CUGBP, Elav-like family member 4
 Mus musculus
 
 2
 7
 
  Celf6
 CUGBP, Elav-like family member 6
 Mus musculus
 
 1
 1
 
  cep290
 centrosomal protein 290
 Danio rerio
 
 1
 2
 
  chd2
 chromodomain helicase DNA binding protein 2
 Danio rerio
 
 1
 1
 
  Chd2
 chromodomain helicase DNA binding protein 2
 Mus musculus
 
 2
 5
 
  Chd5
 chromodomain helicase DNA binding protein 5
 Mus musculus
 
 1
 2
 
  kis
 kismet
 Drosophila melanogaster
 14q11.2
 2
 37
 
  Chd7
 chromodomain helicase DNA binding protein 7
 Mus musculus
 
 3
 5
 
  chd8
 chromodomain helicase DNA binding protein 8
 Danio rerio
 
 2
 22
 
  kis
 kismet
 Drosophila melanogaster
 
 2
 37
 
  Chd8
 chromodomain helicase DNA binding protein 8
 Mus musculus
 
 15
 38
 
  Cic
 capicua transcriptional repressor
 Mus musculus
 19q13.2
 1
 8
 
  Clstn3
 calsyntenin 3
 Mus musculus
 
 1
 1
 
  Cntn4
 contactin 4
 Mus musculus
 Unknown
 3
 3
 
 contactin associated protein like 2a
 Danio rerio
 
 2
 15
 
  Nrx-IV
 Neurexin IV
 Drosophila melanogaster
 
 1
 8
 
 contactin associated protein-like 2
 Mus musculus
 Unknown
 21
 53
 
 contactin associated protein-like 2
 Rattus norvegicus
 Unknown
 2
 1
 
 contactin associated protein-like 4
 Mus musculus
 
 1
 7
 
  Crhr2
 Corticotropin releasing hormone receptor 2
 Mus musculus
 
 1
 2
 
  Csnk1d
 casein kinase 1, delta
 Mus musculus
 
 1
 3
 
  Csnk1e
 casein kinase 1, epsilon
 Mus musculus
 
 1
 1
 
  ctnnb1
 catenin (cadherin associated protein), beta 1
 Mus musculus
 Not reported
 1
 1
 
 catenin (cadherin-associated protein), delta 2b
 Danio rerio
 
 1
 20
 
 Adherens junction protein p120
 Drosophila melanogaster
 
 1
 2
 
  Ctnnd2
 Catenin(cadherin associated protein), delta 2
 Mus musculus
 
 2
 5
 
 cortactin binding protein 2 
 Mus musculus
 
 2
 19
 
  Cul3
 cullin 3
 Mus musculus
 
 5
 17
 
  Cxcr3
 chemokine (C-X-C motif) receptor 3
 Mus musculus
 Unknown
 1
 1
 
  Cyfip1
 Cytoplasmic FMR1 interacting protein 1
 Mus musculus
 
 3
 3
 
  Dab1
 Disabled homolog 1
 Mus musculus
 Unknown
 1
 1
 
  Dab1
 DAB1, reelin adaptor protein
 Rattus norvegicus
 Unknown
 1
 1
 
  Dagla
 diacylglycerol lipase, alpha
 Mus musculus
 
 1
 4
 
  Ddx3x
 DEAD-box helicase 3 X-linked
 Mus musculus
 NA
 1
 1
 
  Deaf1
 Deformed epidermal autoregulatory factor-1
 Drosophila melanogaster
 
 1
 17
 
  Deaf1
 Deformed epidermal autoregulatory factor 1
 Mus musculus
 11p15.5
 3
 9
 
  Dhcr7
 7-dehydrocholesterol reductase
 Mus musculus
 
 3
 5
 
  Dhx9
 DExH-box helicase 9
 Mus musculus
 
 1
 1
 
  Dip2a
 disco interacting protein 2 homolog A
 Mus musculus
 
 1
 2
 
  Disc1
 Disrupted in schizophrenia 1
 Mus musculus
 Unknown
 7
 13
 
  Disc1
 Disrupted in schizophrenia 1
 Rattus norvegicus
 Unknown
 1
 2
 
  dlg1
 discs large 1
 Drosophila melanogaster
 
 2
 7
 
  Dlg4
 discs, large homolog 4 (Drosophila)
 Mus musculus
 Unknown
 4
 4
 
  Dlgap1
 DLG associated protein 1
 Mus musculus
 
 2
 4
 
  Dlgap2
 DLG associated protein 2
 Mus musculus
 NA
 1
 2
 
  Dmd
 Dystrophin, muscular dystrophy
 Mus musculus
 Unknown
 5
 6
 
  Dmpk
 dystrophia myotonica-protein kinase
 Mus musculus
 Unknown
 1
 2
 
  Dnmt3a
 DNA methyltransferase 3A
 Mus musculus
 NA
 3
 4
 
  Dock4
 dedicator of cytokinesis 4
 Mus musculus
 
 1
 1
 
  Dpp6
 dipeptidyl peptidase 6
 Mus musculus
 
 1
 1
 
  Dpysl3
 dihydropyrimidinase-like 3
 Mus musculus
 Not known
 1
 1
 
  Drd1
 Dopamine receptor D1
 Mus musculus
 
 1
 2
 
  Drd1
 dopamine receptor D1
 Rattus norvegicus
 
 2
 5
 
  Drd3
 Dopamine receptor 3
 Mus musculus
 Unknown
 2
 3
 
  Dscam1
 Down syndrome cell adhesion molecule 1
 Drosophila melanogaster
 
 1
 1
 
  Dscam
 Down syndrome cell adhesion molecule
 Mus musculus
 
 6
 13
 
  Dvl1
 Dishevelled segment polarity protein 1
 Mus musculus
 
 1
 8
 
  Dvl3
 Dishevelled segment polarity protein 3
 Mus musculus
 
 1
 5
 
 dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A, a
 Danio rerio
 
 1
 2
 
  mnb
 minibrain
 Drosophila melanogaster
 
 2
 10
 
  Dyrk1a
 dual specificity tyrosine-Y- phosphorylation regulated kinase 1a
 Mus musculus
 
 5
 10
 
  kn
 knot
 Drosophila melanogaster
 
 1
 15
 
  Eef1a2
 eukaryotic translation elongation factor 1 alpha 2
 Mus musculus
 
 1
 7
 
  G9a
 G9a
 Drosophila melanogaster
 
 2
 14
 
  Eif4e
 Eukaryotic translation initiation factor 4E
 Mus musculus
 4q23
 2
 5
 
 eukaryotic translation initiation factor 4E binding protein 2
 Mus musculus
 
 1
 5
 
  Eif4g1
 eukaryotic translation initiation factor 4, gamma 1
 Mus musculus
 
 1
 2
 
  En2
 Engrailed 2
 Mus musculus
 Unknown
 6
 5
 
  Epha6
 Eph receptor A6
 Mus musculus
 Unknown
 1
 1
 
  Eph
 Eph receptor tyrosine kinase
 Drosophila melanogaster
 
 1
 2
 
  Ephb2
 Eph receptor B2
 Mus musculus
 
 1
 5
 
  Eps8
 epidermal growth factor receptor pathway substrate 8
 Mus musculus
 
 1
 1
 
  Erbb4
 v-erb-a erythroblastic leukemia viral oncogene homolog 4 (avian)
 Mus musculus
 Unknown
 3
 2
 
  Erbin
 Erbb2 interacting protein
 Mus musculus
 
 1
 2
 
  Esr2
 estrogen receptor 2
 Rattus norvegicus
 
 1
 1
 
  Esrrb
 Estrogen related receptor, beta
 Mus musculus
 Unknown
 1
 2
 
  Ext1
 exostoses (multiple) 1
 Mus musculus
 
 1
 1
 
  Fezf2
 Fez family zinc finger 2
 Mus musculus
 Unknown
 1
 1
 
  Fgfr2
 fibroblast growth factor receptor 2
 Mus musculus
 
 1
 6
 
  fmr1
 fragile X mental retardation 1
 Danio rerio
 
 3
 3
 
  Fmr1
 CG6203 gene product from transcript CG6203-RC
 Drosophila melanogaster
 
 9
 56
 
  Fmr1
 fragile X mental retardation syndrome 1 homolog
 Mus musculus
 Unknown
 41
 64
 
  Fmr1
 fragile X mental retardation syndrome 1 homolog
 Rattus norvegicus
 Unknown
 4
 3
 
  Folh1
 folate hydrolase
 Mus musculus
 -
 2
 4
 
  Foxg1
 Forkhead box G1
 Mus musculus
 Unknown
 4
 8
 
  Foxp1
 forkhead box P1
 Mus musculus
 Unknown
 6
 9
 
  FoxP
 Forkhead box P
 Drosophila melanogaster
 
 2
 14
 
  Foxp2
 forkhead box P2
 Mus musculus
 Unknown
 5
 8
 
  Frmd5
 FERM domain containing 5
 Mus musculus
 
 1
 2
 
  Gabbr1
 gamma-aminobutyric acid type B receptor subunit 1
 Mus musculus
 
 1
 1
 
  Gabra5
 Gamma-aminobutyric acid (GABA) A receptor, subunit alpha 5
 Mus musculus
 Unreported
 1
 1
 
  Gabrb1
 gamma-aminobutyric acid type A receptor subunit beta 1
 Mus musculus
 
 1
 3
 
  Gabrb2
 gamma-aminobutyric acid (GABA) A receptor, subunit beta 2
 Mus musculus
 
 
 1
 8
 
  Lcch3
 Ligand-gated chloride channel homolog 3
 Drosophila melanogaster
 
 1
 2
 
  Gabrb3
 gamma-aminobutyric acid (GABA) A receptor, subunit beta 3
 Mus musculus
 Unknown
 9
 23
 
  Gad1
 glutamate decarboxylase 1
 Mus musculus
 
 1
 1
 
 growth arrest and DNA-damage-inducible 45 beta
 Mus musculus
 
 1
 1
 
 growth arrest and DNA-damage-inducible, beta
 Rattus norvegicus
 
 1
 1
 
  Gap43
 growth associated protein 43
 Mus musculus
 Unknown
 1
 1
 
  Gigyf1
 GRB10 interacting GYF protein 1
 Mus musculus
 
 2
 6
 
  Gyf
 Gigyf
 Drosophila melanogaster
 
 1
 2
 
  Glra2
 glycine receptor, alpha 2 subunit
 Mus musculus
 Unknown
 1
 1
 
  Gria2
 Glutamate receptor, ionotropic, AMPA 2
 Mus musculus
 Unknown
 1
 1
 
  Grid1
 glutamate receptor, ionotropic, delta 1
 Mus musculus
 
 1
 1
 
  Grid2
 glutamate receptor, ionotropic, delta 2
 Mus musculus
 
 1
 2
 
  Grik2
 glutamate receptor, ionotropic, kainate 2 (beta 2)
 Mus musculus
 
 2
 4
 
  Grik4
 Glutamate receptor, ionotropic, kainate 4
 Mus musculus
 
 4
 12
 
  Grin1
 glutamate receptor, ionotropic, NMDA1 (zeta 1)
 Mus musculus
 
 3
 7
 
  Nmdar2
 NMDA receptor 2
 Drosophila melanogaster
 
 1
 2
 
  Grin2b
 glutamate receptor, ionotropic, NMDA2B (epsilon 2)
 Mus musculus
 
 6
 11
 
  Grip1
 glutamate receptor interacting protein 1
 Mus musculus
 Unknown
 2
 3
 
  Grm5
 glutamate receptor, metabotropic 5
 Mus musculus
 
 3
 12
 
  Grm8
 glutamate receptor, metabotropic 8
 Mus musculus
 Unknown
 1
 1
 
  Grpr
 gastrin releasing peptide receptor
 Mus musculus
 Unknown
 3
 5
 
  Gsk3b
 glycogen synthase kinase 3 beta
 Mus musculus
 Unknown
 1
 1
 
  Gstm1
 Glutathione S-transferase, mu 1
 Mus musculus
 Unknown
 1
 1
 
  Gtf2i
 general transcription factor II I
 Mus musculus
 Unknown
 2
 5
 
  Hcn1
 hyperpolarization-activated cyclic nucleotide-gated potassium channel 1
 Rattus norvegicus
 
 1
 4
 
  Hdac3
 Histone deacetylase 3
 Mus musculus
 5q31
 1
 1
 
  Hdac4
 Histone deacetylase 4
 Mus musculus
 Unknown
 1
 2
 
  Hdc
 histidine decarboxylase
 Mus musculus
 
 2
 20
 
  Hmgn1
 High mobility group nucleosomal binding domain 1
 Mus musculus
 Unknown
 1
 2
 
  Hnrnpu
 heterogeneous nuclear ribonucleoprotein U
 Mus musculus
 
 2
 7
 
  Homer1
 homer homolog 1
 Mus musculus
 
 3
 4
 
  Homer1
 homer scaffolding protein 1
 Rattus norvegicus
 
 1
 2
 
  Hoxa1
 Homeobox A1
 Mus musculus
 Unknown
 2
 3
 
  Htr1b
 5-hydroxytryptamine (serotonin) receptor 1B
 Mus musculus
 Unknown
 1
 2
 
  Htr2a
 5-hydroxytryptamine (serotonin) receptor 2A
 Mus musculus
 Unknown
 2
 4
 
  Htr3a
 5-hydroxytryptamine (serotonin) receptor 3A
 Mus musculus
 Unknown
 2
 3
 
  Ifng
 Interferon gamma
 Mus musculus
 
 1
 3
 
  Ifngr1
 Interferon gamma receptor 1
 Mus musculus
 
 1
 1
 
 interleukin 1 receptor accessory protein-like 1
 Mus musculus
 Unknown
 2
 2
 
  Immp2l
 IMP2 inner mitochondrial membrane peptidase-like
 Mus musculus
 Unknown
 1
 2
 
  Iqsec2
 IQ motif and Sec7 domain 2
 Mus musculus
 X-linked
 1
 1
 
  Itgb3
 integrin beta 3
 Mus musculus
 Unknown
 2
 2
 
 janus kinase and microtubule interacting protein 1
 Mus musculus
 syntenic with part of mouse chromosome 5,
 1
 1
 
  kcnj10
 ATP-sensitive inward rectifier potassium channel 10
 Danio rerio
 
 1
 8
 
  Irk1
 Inwardly rectifying potassium channel 2
 Drosophila melanogaster
 
 1
 4
 
  Kcnma1
 potassium large conductance calcium-activated channel, subfamily M, alpha member 1
 Mus musculus
 Yes
 3
 3
 
  Kcnq2
 potassium voltage-gated channel, subfamily Q, member 2
 Mus musculus
 Unknown
 1
 1
 
  kctd13
 potassium channel tetramerization domain containing 13
 Danio rerio
 
 4
 13
 
 CG10465
 Drosophila melanogaster
 
 1
 11
 
  Kctd13
 potassium channel tetramerisation domain containing 13
 Mus musculus
 16p11.2
 2
 6
 
  Kdm2b
 lysine (K)-specific demethylase 2B
 Mus musculus
 
 1
 2
 
  Kdm5a
 lysine demethylase 5A
 Mus musculus
 NA
 1
 1
 
  Kdm5b
 lysine (K)-specific demethylase 5B
 Mus musculus
 
 2
 2
 
  Kdm5c
 lysine (K)-specific demethylase 5C
 Mus musculus
 Yes
 1
 3
 
  kdm6a
 lysine (K)-specific demethylase 6A
 Danio rerio
 
 1
 3
 
  Kdm6b
 KDM1 lysine (K)-specific demethylase 6B
 Mus musculus
 
 1
 3
 
 kirre like nephrin family adhesion molecule 3
 Mus musculus
 
 1
 1
 
  Klf7
 Kruppel-like factor 7 (ubiquitous)
 Mus musculus
 
 2
 7
 
  Kmt2a
 Lysine (K)-specific methyltransferase 2A
 Mus musculus
 
 3
 4
 
  trr
 trithorax-related
 Drosophila melanogaster
 
 1
 1
 
  Kmt2c
 lysine (K)-specific methyltransferase 2C
 Mus musculus
 
 1
 1
 
  Kmt2e
 Lysine (K)-specific methyltransferase 2E
 Mus musculus
 
 1
 1
 
 Histone methyltransferase 4-20
 Drosophila melanogaster
 
 1
 1
 
  Kmt5b
 lysine methyltransferase 5B
 Mus musculus
 NA
 2
 2
 
  LanB2
 Laminin B2
 Drosophila melanogaster
 
 1
 2
 
  lat
 linker for activation of T cells
 Danio rerio
 
 1
 12
 
  Lrfn2
 leucine rich repeat and fibronectin type III domain containing 2
 Mus musculus
 
 1
 2
 
  Lrrc4
 leucine rich repeat containing 4
 Mus musculus
 
 1
 4
 
  Lrrc7
 Leucine rich repeat containing 7
 Mus musculus
 Unknown
 1
 1
 
  Magel2
 melanoma antigen, familyL,2
 Mus musculus
 
 3
 1
 
  Maoa
 Monoamine Oxidase A
 Mus musculus
 Unknown
 3
 3
 
  Map1b
 microtubule-associated protein 1B
 Mus musculus
 
 1
 1
 
  Mapk1
 mitogen-activated protein kinase 1
 Mus musculus
 Unknown
 1
 1
 
  mapk3
 mitogen-activated protein kinase 3
 Danio rerio
 
 2
 2
 
  rl
 rolled
 Drosophila melanogaster
 
 3
 24
 
 mitogen-activated protein kinase 8 interacting protein 2
 Mus musculus
 Yes
 1
 1
 
  Mbd3
 methyl-CpG binding domain protein 3
 Mus musculus
 Unknown
 1
 1
 
  Mboat7
 membrane bound O-acyltransferase domain containing 7
 Mus musculus
 NA
 1
 1
 
  Mcph1
 microcephaly, primary autosomal recessive 1
 Mus musculus
 Unknown
 1
 2
 
  Mdga2
 MAM domain containing glycosylphosphatidylinositol anchor 2
 Mus musculus
 
 1
 2
 
  mecp2
 methyl CpG binding protein 2
 Danio rerio
 
 2
 13
 
  hMECP2
 methyl-CpG binding protein 2
 Drosophila melanogaster
 
 1
 113
 
  Mecp2
 methyl CpG binding protein 2
 Mus musculus
 Yes
 36
 95
 
  Mecp2
 methyl CpG binding protein 2
 Rattus norvegicus
 Unknown
 6
 3
 
  Mef2c
 myocyte enhancer factor 2C
 Mus musculus
 Unknown
 6
 15
 
  met
 MET proto-oncogene, receptor tyrosine kinase
 Danio rerio
 
 1
 1
 
  Met
 met proto-oncogene
 Mus musculus
 Unknown
 7
 10
 
  Mir137
 microRNA 137
 Mus musculus
 
 1
 6
 
  Mthfr
 methylenetetrahydrofolate reductase
 Mus musculus
 
 2
 4
 
  Mtor
 mechanistic target of rapamycin kinase
 Mus musculus
 NA
 1
 3
 
  Myo5a
 myosin VA
 Mus musculus
 
 1
 4
 
  myt1la
 myelin transcription factor 1-like, a
 Danio rerio
 
 1
 2
 
  Myt1l
 Myelin transcription factor 1-like protein
 Mus musculus
 Na
 3
 5
 
  NAT1
 NAT1
 Drosophila melanogaster
 
 1
 2
 
  nbeaa
 neurobeachin
 Danio rerio
 13q13.3
 1
 10
 
  rg
 rugose
 Drosophila melanogaster
 13q13.3
 1
 13
 
  Nbea
 neurobeachin
 Mus musculus
 Unknown
 3
 3
 
  Hem
 HEM-protein
 Drosophila melanogaster
 
 1
 2
 
  Smr
 Smrter
 Drosophila melanogaster
 
 1
 1
 
  Negr1
 neuronal growth regulator 1
 Mus musculus
 
 2
 9
 
  Nell1
 NEL-like 1
 Mus musculus
 
 1
 2
 
 neurogenic differentiation 2
 Mus musculus
 NA
 1
 3
 
  Nexmif
 neurite extension and migration factor
 Mus musculus
 
 2
 1
 
  Nf1
 Neurofibromin 1
 Drosophila melanogaster
 
 1
 21
 
  Nf1
 neurofibramatosis 1
 Mus musculus
 Unknown
 6
 10
 
  Nlgn1
 neuroligin 1
 Mus musculus
 Unknown
 7
 10
 
  Nlg2
 Neuroligin 2
 Drosophila melanogaster
 
 1
 1
 
  Nlgn2
 neuroligin 2
 Mus musculus
 
 3
 9
 
  Nlgn2
 neuroligin 2
 Rattus norvegicus
 
 1
 1
 
  dnl2
 Neuroligin 2
 Drosophila melanogaster
 
 1
 1
 
  Nlgn3
 neuroligin 3
 Mus musculus
 Yes
 23
 50
 
  Nlgn3
 neuroligin 3
 Rattus norvegicus
 Yes
 3
 1
 
  Nlg4
 Neuroligin 4
 Drosophila melanogaster
 
 2
 2
 
  Nlgn4x
 neuroligin 4-like
 Mus musculus
 Unknown
 3
 3
 
  Nos2
 Nitric oxide synthase 2, inducible
 Mus musculus
 Unknown
 3
 1
 
  Npas2
 neuronal PAS domain protein 2
 Mus musculus
 Unknown
 3
 2
 
  Nr2f1
 nuclear receptor subfamily 2 group F member 1
 Mus musculus
 NA
 1
 2
 
  Nr3c2
 nuclear receptor subfamily 3, group C, member 2
 Mus musculus
 Unknown
 2
 2
 
  Nrcam
 neuron-glia-CAM-related cell adhesion molecule
 Mus musculus
 Unknown
 1
 1
 
  Nrg1
 neuregulin 1
 Mus musculus
 
 1
 1
 
  Nrp2
 neuropilin 2
 Mus musculus
 Unknown
 2
 4
 
  Nrx-1
 Neurexin 1
 Drosophila melanogaster
 
 3
 60
 
  Nrxn1
 Neurexin 1
 Mus musculus
 Unknown
 3
 7
 
  Nrxn1
 neurexin 1
 Rattus norvegicus
 Unknown
 3
 2
 
  Nrxn2
 Neurexin 2
 Mus musculus
 
 2
 3
 
  Ntng1
 Netrin G1
 Mus musculus
 Unknown
 1
 1
 
  Ntng2
 Netrin G2
 Mus musculus
 Unknown
 1
 1
 
  Nuak1
 NUAK family, SNF1-like kinase, 1
 Mus musculus
 Unknown
 1
 6
 
  Ophn1
 Oligophrenin 1
 Mus musculus
 Unknown
 1
 1
 
  Oprm1
 opioid receptor, mu 1
 Mus musculus
 Human 6q24-q25; chr6:154010496-154246867
 2
 3
 
  Otud7a
 OTU domain containing 7A
 Mus musculus
 15q13.3
 1
 2
 
  Oxt
 oxytocin
 Mus musculus
 Chromosome 3p25
 2
 7
 
  Oxtr
 Oxytocin receptor
 Mus musculus
 Unknown
 7
 17
 
  P2rx4
 purinergic receptor P2X, ligand-gated ion channel 4
 Mus musculus
 
 1
 2
 
  pacs1a
 phosphofurin acidic cluster sorting protein 1a
 Danio rerio
 
 1
 2
 
 platelet-activating factor acetylhydrolase, isoform 1b, subunit 1
 Mus musculus
 
 1
 2
 
  Pak2
 p21 (RAC1) activated kinase 2
 Mus musculus
 
 1
 3
 
  baz
 bazooka
 Drosophila melanogaster
 
 1
 2
 
  PAX5
 Paired box 5
 Mus musculus
 
 2
 4
 
  Pax6
 paired box 6
 Rattus norvegicus
 
 2
 2
 
  Pcdh10
 protocadherin 10
 Mus musculus
 Unknown
 2
 3
 
  Pcdh19
 protocadherin 19
 Mus musculus
 
 1
 4
 
  Pcdh19
 protocadherin 19
 Rattus norvegicus
 
 1
 2
 
  Pclo
 piccolo (presynaptic cytomatrix protein)
 Mus musculus
 
 1
 2
 
  Per1
 Period homolog 1
 Mus musculus
 Unknown
 1
 1
 
 peptidoglycan recognition protein 2
 Mus musculus
 
 1
 1
 
  Pitx1
 paired-like homeodomain transcription factor 1
 Mus musculus
 Unknown
 1
 1
 
  Plaur
 plasminogen activator, urokinase receptor
 Mus musculus
 Unknown
 1
 1
 
  Pln
 Phospholamban
 Mus musculus
 Unknown
 1
 1
 
  Plppr4
 phospholipid phosphatase related 4
 Mus musculus
 
 3
 8
 
  PlexB
 Plexin B
 Drosophila melanogaster
 
 1
 2
 
  row
 relative of woc
 Drosophila melanogaster
 
 1
 2
 
  Pogz
 pogo transposable element with ZNF domain
 Mus musculus
 
 4
 8
 
  Pou3f2
 POU domain class 3 transcription factor 2
 Mus musculus
 
 1
 2
 
 prickle homolog 1 (Drosophila)
 Mus musculus
 
 2
 7
 
 prickle homolog 2 (Drosophila)
 Mus musculus
 
 2
 2
 
  Prkcb
 Protein Kinase C, beta
 Mus musculus
 Unknown
 1
 1
 
  Prkdc
 Protein kinase, DNA activated, catalytic peptide
 Mus musculus
 
 1
 2
 
  Prkn
 parkin RBR E3 ubiquitin protein ligase
 Mus musculus
 Unknown
 2
 2
 
  Prkn
 parkin RBR E3 ubiquitin protein ligase
 Rattus norvegicus
 Unknown
 1
 1
 
  Ptchd1
 Patched domain containing 1
 Mus musculus
 
 3
 9
 
  Pten
 Phosphatase and tensin homolog
 Drosophila melanogaster
 
 2
 5
 
  Pten
 phosphatase and tensin homolog
 Mus musculus
 Unknown
 20
 34
 
  Pten
 phosphatase and tensin homolog
 Rattus norvegicus
 
 1
 1
 
  Ptgs2
 prostaglandin-endoperoxide synthase 2
 Mus musculus
 
 1
 1
 
  Pvalb
 Parvalbumin
 Mus musculus
 
 1
 3
 
  Rab39b
 RAB39B, member RAS oncogene family
 Mus musculus
 NA
 1
 2
 
  Rai1
 retinoic acid induced 1
 Mus musculus
 Unknown
 3
 12
 
 Rap guanine nucleotide exchange factor (GEF) 4
 Mus musculus
 Unknown
 2
 2
 
  Rasd1
 RAS, dexamethasone induced 1
 Mus musculus
 
 1
 2
 
  Rbfox1
 RNA binding protein, fox-1 homolog
 Mus musculus
 Unknown
 2
 4
 
  Reln
 Reelin
 Mus musculus
 Unknown
 9
 9
 
  rheb
 Ras homolog, mTORC1 binding
 Danio rerio
 
 1
 6
 
  Rheb
 Ras homolog enriched in brain
 Drosophila melanogaster
 
 1
 2
 
  Rheb
 Ras homolog enriched in brain
 Mus musculus
 
 1
 3
 
  Rims1
 regulating synaptic membrane exocytosis 1
 Mus musculus
 6q13
 4
 10
 
  rlim
 ring finger protein, LIM domain interacting
 Danio rerio
 
 1
 11
 
  roraa
 RAR-related orphan receptor A, paralog a
 Danio rerio
 
 1
 25
 
  Rorb
 RAR-related orphan receptor beta
 Mus musculus
 
 1
 2
 
  rpl10
 ribosomal protein L10
 Danio rerio
 Xq28
 1
 11
 
 ribosomal protein S6 kinase polypeptide 3
 Mus musculus
 
 1
 1
 
  Scgn
 secretagogin, EF-hand calcium binding protein
 Mus musculus
 
 1
 3
 
  Scn1a
 sodium channel, voltage-gated, type I, alpha
 Mus musculus
 Unknown
 7
 19
 
  Scn1a
 sodium channel, voltage-gated, type I, alpha
 Rattus norvegicus
 Unknown
 1
 2
 
  para
 paralytic
 Drosophila melanogaster
 
 1
 2
 
  Scn2a
 sodium channel, voltage-gated, type II, alpha I
 Mus musculus
 Unknown
 6
 9
 
  Scn8a
 sodium channel, voltage-gated, type VIII, alpha
 Mus musculus
 Unknown
 1
 1
 
  Sema3f
 sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F
 Mus musculus
 
 1
 3
 
  Sema5a
 Sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A
 Mus musculus
 Unknown
 1
 1
 
  Senp1
 SUMO1/sentrin specific peptidase 1
 Mus musculus
 
 2
 4
 
  Setd5
 SET domain containing 5
 Mus musculus
 
 3
 4
 
  Sgsh
 N-sulfoglucosamine sulfohydrolase (sulfamidase) 
 Mus musculus
 NA
 1
 5
 
  Sh3rf2
 SH3 domain containing ring finger 2
 Mus musculus
 
 1
 2
 
  Shank1
 SH3/ankyrin domain gene 1
 Mus musculus
 Unknown
 4
 4
 
  Shank2
 SH3/ankyrin domain gene 2
 Mus musculus
 
 9
 24
 
  Shank2
 SH3 and multiple ankyrin repeat domains 2
 Rattus norvegicus
 
 1
 5
 
 SH3 and multiple ankyrin repeat domains 3b
 Danio rerio
 
 2
 5
 
  Shank3
 SH3/ankyrin domain gene 3
 Mus musculus
 Unknown
 40
 107
 
  Shank3
 SH3 and multiple ankyrin repeat domains 3
 Rattus norvegicus
 Unknown
 3
 4
 
  Sin3A
 Sin3A
 Drosophila melanogaster
 
 1
 2
 
  Slc1a2
 solute carrier family 1 (glial high affinity glutamate transporter), member 2
 Mus musculus
 
 1
 8
 
 solute carrier family 25 (Mitochondrial carrier, Aralar), member 12
 Mus musculus
 Unknown
 2
 4
 
 Solute carrier family 30 (zinc transporter), member 3
 Mus musculus
 2p23.3
 1
 2
 
 Solute carrier family 33 member 1
 Mus musculus
 Unknown
 1
 2
 
 Solute carrier family 35, member G1
 Mus musculus
 
 1
 2
 
 solute carrier family 4, sodium bicarbonate cotransporter-like, member 10
 Mus musculus
 Unknown
 1
 1
 
  Slc6a1
 Solute carrier family 6
 Mus musculus
 
 1
 1
 
  DAT
 Dopamine transporter
 Drosophila melanogaster
 
 2
 6
 
  Slc6a3
 solute carrier family 6 (neurotransmitter transporter), member 3
 Mus musculus
 
 6
 15
 
  Slc6a3
 solute carrier family 6 member 3
 Rattus norvegicus
 
 1
 4
 
  Slc6a4
 solute carrier family 6 (neurotransmitter transporter, serotonin), member 4
 Mus musculus
 Unknown
 7
 14
 
  Slc6a4
 solute carrier family 6 member 4
 Rattus norvegicus
 
 2
 3
 
  Slc6a8
 Solute carrier family 6 (neurotransmitter transporter, creatine), member 8
 Mus musculus
 Xq28
 1
 2
 
  Slc7a5
 solute carrier family 7 (cationic amino acid transporter, y+ system), member 5
 Mus musculus
 
 2
 3
 
  Slc9a6
 solute carrier family 9 (sodium/hydrogen exchanger), member 6
 Mus musculus
 
 3
 3
 
  Slc9a9
 solute carrier family 9 (sodium/hydrogen exchanger), member 9
 Mus musculus
 Chromosome 3
 1
 3
 
 SLIT and NTRK-like family, member 2
 Mus musculus
 
 2
 7
 
 SLIT and NTRK-like family, member 5
 Mus musculus
 
 1
 2
 
  Spast
 Spastin
 Mus musculus
 
 1
 1
 
  SPTBN1
 Spectrin beta, non-erythrocytic 1
 Mus musculus
 NA
 2
 4
 
  dom
 domino
 Drosophila melanogaster
 
 1
 1
 
  Srrm4
 serine/arginine repetitive matrix 4
 Mus musculus
 12q24.23
 1
 2
 
 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2
 Mus musculus
 Unknown
 3
 5
 
  Stat1
 Signal transducer and activator of transcription 1
 Mus musculus
 
 1
 2
 
  Stk39
 Seine/threonin kinase 39, STE20/SPS1 homolog (yeast)
 Mus musculus
 Unknown
 1
 1
 
  Stxbp1
 syntaxin binding protein 1
 Mus musculus
 Human 9q34.11
 1
 6
 
  Sybu
 syntabulin (syntaxin-interacting)
 Mus musculus
 8q23.2
 1
 1
 
  Syn1
 Synapsin I
 Mus musculus
 
 2
 1
 
  Syn2
 Synapsin II
 Mus musculus
 
 2
 3
 
  Syn3
 Syapsin III
 Mus musculus
 
 2
 2
 
 synaptic Ras GTPase activating protein 1a
 Danio rerio
 6p21.32
 1
 6
 
 CG42684
 Drosophila melanogaster
 
 1
 2
 
 synaptic Ras GTPase activating protein 1 homolog (rat)
 Mus musculus
 Unknown
 9
 16
 
  Tao
 Tao
 Drosophila melanogaster
 
 1
 5
 
  Taok2
 TAO kinase 2
 Mus musculus
 
 2
 12
 
  Tbr1
 T-box brain gene1
 Mus musculus
 
 10
 31
 
  org-1
 optomotor-blind-related-gene-1
 Drosophila melanogaster
 
 1
 7
 
  Tbx1
 T-box1
 Mus musculus
 Unknown
 2
 1
 
  Tcf20
 transcription factor 20
 Mus musculus
 22q13.2
 1
 5
 
  da
 daughterless
 Drosophila melanogaster
 
 1
 1
 
  Tcf4
 transcription factor 4
 Mus musculus
 
 3
 7
 
  Tcf4
 transcription factor 4
 Rattus norvegicus
 
 2
 5
 
  Tcf7l2
 transcription factor 7 like 2, T cell specific, HMG box
 Mus musculus
 
 2
 16
 
  Tert
 Telomerase reverse transcriptase
 Mus musculus
 
 1
 2
 
  Tet2
 Tet methylcytosine dioxygenase 2
 Mus musculus
 
 1
 6
 
  Thra
 thyroid hormone receptor alpha
 Mus musculus
 Unknown
 1
 1
 
 Topoisomerase 3beta
 Drosophila melanogaster
 
 1
 4
 
  Top3b
 Topoisomerase (DNA) III beta
 Mus musculus
 
 3
 3
 
  Tph2
 Tryptophan hydroxylase 2
 Mus musculus
 
 2
 3
 
 trafficking protein particle complex 6b
 Danio rerio
 
 1
 8
 
  Trim32
 Tripartite motif-containing 32
 Mus musculus
 
 2
 4
 
  Trio
 triple functional domain (PTPRF interacting)
 Mus musculus
 
 1
 2
 
  ctrip
 circadian trip
 Drosophila melanogaster
 
 1
 2
 
  Trpc6
 Transient receptor potential cation channel, subfamily C, member 6
 Mus musculus
 
 1
 4
 
  Tsc1
 Tsc1
 Drosophila melanogaster
 
 2
 11
 
  Tsc1
 Tuberous sclerosis 1
 Mus musculus
 Unknown
 14
 40
 
  Tsc2
 tuberous sclerosis 2
 Mus musculus
 Unknown
 10
 25
 
  Tsc2
 tuberous sclerosis 2
 Rattus norvegicus
 Unknown
 3
 3
 
  Tshz1
 teashirt zinc finger family member 1
 Mus musculus
 
 1
 3
 
  Tshz3
 Teashirt zinc finger family member 3
 Mus musculus
 
 2
 4
 
  Tyr
 Tyrosinase
 Mus musculus
 Unknown
 1
 1
 
  Uba6
 ubiquitin-like modifier activating enzyme 6
 Mus musculus
 
 1
 1
 
  Ubap2l
 ubiquitin-associated protein 2-like
 Mus musculus
 
 1
 2
 
  Ube3a
 Ubiquitin protein ligase E3A
 Drosophila melanogaster
 
 4
 64
 
  Ube3a
 ubiquitin protein ligase E3A
 Mus musculus
 Unknown
 13
 34
 
  Ube3b
 ubiquitin protein ligase E3B
 Mus musculus
 
 1
 1
 
  Ucn3
 Urocortin 3
 Mus musculus
 
 1
 2
 
  Upf2
 UPF2regulator of nonsense transcripts homolog
 Mus musculus
 
 1
 3
 
  Upf3b
 UPF3 regulator of nonsense transcripts homolog B (yeast)
 Mus musculus
 
 1
 3
 
  Usp7
 Ubiquitin specific peptidase 7
 Mus musculus
 
 2
 3
 
  Vcp
 valosin containing protein
 Mus musculus
 
 1
 4
 
  Vldlr
 very low density lipoprotein receptor
 Rattus norvegicus
 Unknown
 1
 1
 
  Vrk3
 vaccinia related kinase 3
 Mus musculus
 19q13.33
 1
 5
 
  bchs
 blue cheese
 Drosophila melanogaster
 
 2
 4
 
  Wdfy3
 WD repeat and FYVE domain containing 3
 Mus musculus
 Unknown
 1
 4
 
  Wwox
 WW domain-containing oxidoreductase
 Rattus norvegicus
 
 3
 1
 
  Zbtb18
 Zinc finger and BTB domain containing 18
 Mus musculus
 
 1
 1

 

PIN Search Results

Gene Symbol
Gene Name
Number of Interactions
4-aminobutyrate aminotransferase
11
actinin, alpha 4
8
ADA
adenosine deaminase
13
Adenylate cyclase type 5
1
ADK
adenosine kinase
6
activity-dependent neuroprotector homeobox
51
adenosine A2a receptor
15
adrenergic, beta-2-, receptor, surface
194
adenylosuccinate lyase
17
AF4/FMR2 family, member 2
3
AF4/FMR2 family, member 4
37
ArfGAP with GTPase domain, ankyrin repeat and PH domain 1
15
ATP/GTP binding protein-like 4
1
angiotensin II receptor, type 2
2
Abelson helper integration site 1
6
aldehyde dehydrogenase 5 family, member A1
8
ankyrin 2, neuronal
36
ankyrin 3, node of Ranvier (ankyrin G)
57
ankyrin repeat domain 11
30
annexin A1
55
amyloid beta (A4) precursor protein-binding, family A, member 2
32
APC
adenomatous polyposis coli
391
anterior pharynx defective 1 homolog A (C. elegans)
2
APP
amyloid beta (A4) precursor protein
79
AR
androgen receptor
19
Rho GTPase activating protein 32
9
Rho GTPase-activating protein 33
5
Cdc42 guanine nucleotide exchange factor (GEF) 9
3
AT rich interactive domain 1B (SWI1-like)
27
aryl-hydrocarbon receptor nuclear translocator 2
297
ARX
aristaless related homeobox
1010
ash1 (absent, small, or homeotic)-like (Drosophila)
21
astrotactin 2
4
additional sex combs like 3 (Drosophila)
2
ATPase, class V, type 10A
1
ATPase Na+/K+ transporting subunit alpha 3
9
ATPase, Ca++ transporting, plasma membrane 2
121
ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1
4
attractin-like 1
1
alpha thalassemia/mental retardation syndrome X-linked
7
ataxin 7
3
Autism susceptibility gene 2 protein
143
arginine vasopressin receptor 1A
3
BAI1-associated protein 2
22
branched chain ketoacid dehydrogenase kinase
23
B-cell CLL/lymphoma 11A (zinc finger protein)
42
brain-derived neurotrophic factor
9
bridging integrator 1
10
baculoviral IAP repeat containing 6
22
Serine/threonine-protein kinase B-raf
21
breast cancer 2, early onset
84
C4B
complement component 4B (Chido blood group)
10
CA6
Carbonic anhydrase 6
7
calcium channel, voltage-dependent, L type, alpha 1C subunit
48
calcium channel, voltage-dependent, R type, alpha 1E subunit
2
Voltage-dependent L-type calcium channel subunit alpha-1F
6
calcium channel, voltage-dependent, T type, alpha 1G subunit
9
calcium channel, voltage-dependent, T type, alpha 1H subunit
14
calcium channel, voltage-dependent, beta 2 subunit
7
cell adhesion molecule 1
22
Ca++-dependent secretion activator 2
18
cell cycle associated protein 1
4
coiled-coil and C2 domain containing 1A
13
CD44 molecule (Indian blood group)
53
CDC42 binding protein kinase beta (DMPK-like)
8
cadherin 10, type 2 (T2-cadherin)
9
Cadherin-11
2
PB-cadherin
1
cadherin 8, type 2
20
Cadherin-9
8
cyclin-dependent kinase-like 5
23
chromodomain helicase DNA binding protein 2
47
chromodomain helicase DNA binding protein 7
110
chromodomain helicase DNA binding protein 8
4376
cholinergic receptor, nicotinic, alpha 7 (neuronal)
17
calsyntenin 3
6
clathrin, heavy chain-like 1
39
c-Maf inducing protein
4
cannabinoid receptor 1 (brain)
1
contactin 4
6
contactin 6
3
contactin associated protein-like 2
44
Contactin-associated protein-like 4
6
contactin associated protein-like 5
1
CREB binding protein
18
casein kinase 1, delta
55
CCCTC-binding factor (zinc finger protein)
54
catenin (cadherin-associated protein), alpha 3
33
catenin (cadherin-associated protein), beta 1, 88kDa
235
catenin (cadherin-associated protein), delta 2
99
cortactin binding protein 2
27
cullin 3
1281
cytochrome P450, family 11, subfamily B, polypeptide 1
4
death-associated protein kinase 1
4
DCN1, defective in cullin neddylation 1, domain containing 1 (S. cerevisiae)
12
DCX
doublecortin
19
DEAD (Asp-Glu-Ala-Asp) box polypeptide 53
5
DEAF1 transcription factor
25
density-regulated protein
32
diacylglycerol kinase, zeta
4
7-dehydrocholesterol reductase
10
DIP2 disco-interacting protein 2 homolog A (Drosophila)
31
disrupted in schizophrenia 1
178
discs, large homolog 1 (Drosophila)
18
DLG4discs, large homolog 4 (Drosophila)
127
Disks large-associated protein 2
11
distal-less homeobox 1
2
distal-less homeobox 2
20
distal-less homeobox 6
2
DMD
dystrophin
70
dystrophia myotonica-protein kinase
18
Dmx-like 2
29
dynamin 1-like
16
dedicator of cytokinesis 4
9
dipeptidyl-peptidase 10 (non-functional)
3
dipeptidyl-peptidase 6
6
dihydropyrimidine dehydrogenase
7
dopamine receptor D1
3
dopamine receptor D2
45
dopamine receptor D3
8
Down syndrome cell adhesion molecule
8
dual specificity phosphatase 15
2
dishevelled, dsh homolog 1 (Drosophila)
4
dishevelled, dsh homolog 3 (Drosophila)
27
DPY30 domain-containing protein 1
13
dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A
55
euchromatic histone-lysine N-methyltransferase 1
5013
eukaryotic translation initiation factor 4E
44
eukaryotic translation initiation factor 4E binding protein 2
9
ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2 (Hu antigen B)
167
echinoderm microtubule associated protein like 1
11
EN2
engrailed homeobox 2
10
E1A binding protein p300
16
E1A binding protein p400
56
enhancer of polycomb homolog 2 (Drosophila)
25
EPH receptor B2
6
v-erb-a erythroblastic leukemia viral oncogene homolog 4 (avian)
2
ERG
v-ets erythroblastosis virus E26 oncogene homolog (avian)
1
Ermin
3
estrogen receptor 1
16
estrogen receptor 2 (ER beta)
11
exocyst complex component 5
42
exocyst complex component 6
22
exostosin 1
27
fatty acid binding protein 5 (psoriasis-associated)
3
Fatty acid-binding protein, brain
3
FANCD2/FANCI-associated nuclease 1
12
FAT tumor suppressor homolog 1 (Drosophila)
79
F-box protein 33
8
F-box only protein 40
6
Fez family zinc finger protein 2
4
fragile histidine triad gene
14
fragile X mental retardation 1
9286
forkhead box G1
34
forkhead box P1
153
forkhead box P2
307
FRK
fyn-related kinase
10
gamma-aminobutyric acid (GABA) A receptor, alpha 1
4
Gamma-aminobutyric acid receptor subunit alpha-4
8
gamma-aminobutyric acid (GABA) A receptor, beta 1
6
gamma-aminobutyric acid (GABA) A receptor, beta 3
29
gamma-aminobutyric acid (GABA) A receptor, theta
1
Growth arrest and DNA damage-inducible protein GADD45 beta
17
UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)
3
growth associated protein 43
33
GRB10 interacting GYF protein 1
12
glyoxalase I
11
Neuroendocrine secretory protein 55
20
guanine nucleotide binding protein (G protein), beta polypeptide 1-like
14
gephyrin
45
G protein-coupled receptor 37 (endothelin receptor type B-like)
34
glutathione peroxidase 1
3
glutamate receptor, ionotropic, delta 2
17
glutamate receptor, ionotropic, kainate 2
29
glutamate receptor, ionotropic, N-methyl D-aspartate 1
65
Glutamate receptor ionotropic, NMDA 2A
9
glutamate receptor, ionotropic, N-methyl D-aspartate 2B
77
glutamate receptor interacting protein 1
82
glutamate receptor, metabotropic 5
38
gastrin-releasing peptide receptor
56
glycogen synthase kinase 3 beta
26
Glutathione S-transferase Mu 1
6
general transcription factor IIi
102
host cell factor C1 (VP16-accessory protein)
17
hyperpolarization activated cyclic nucleotide-gated potassium channel 1
11
histone deacetylase 4
52
histone deacetylase 6
10
hepatic and glial cell adhesion molecule
8
HECT and RLD domain containing E3 ubiquitin protein ligase 2
73
major histocompatibility complex, class I, A
18
high mobility group nucleosome binding domain 1
35
homer homolog 1 (Drosophila)
61
homeobox A1
338
homeobox B1
1
v-Ha-ras Harvey rat sarcoma viral oncogene homolog
43
hydroxysteroid (11-beta) dehydrogenase 1
13
5-hydroxytryptamine (serotonin) receptor 1B, G protein-coupled
5
5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled
3
5-hydroxytryptamine receptor 3C
42
HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase
5
islet cell autoantigen 1, 69kDa
14
interleukin 1 receptor accessory protein-like 1
7
Mitochondrial inner membrane protease subunit 2
3
Inositol polyphosphate 1-phosphatase
12
integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)
51
Janus kinase and microtubule-interacting protein 1
43
jumonji domain containing 1C
13
K(lysine) acetyltransferase 2B
28
katanin p60 subunit A-like 2
3
potassium voltage-gated channel, Shal-related subfamily, member 2
23
potassium inwardly-rectifying channel, subfamily J, member 10
21
potassium large conductance calcium-activated channel, subfamily M, alpha member 1
26
potassium voltage-gated channel, KQT-like subfamily, member 2
10
potassium voltage-gated channel, KQT-like subfamily, member 3
5
potassium channel, subfamily T, member 1
3
potassium channel tetramerisation domain containing 13
40
lysine (K)-specific demethylase 5B
97
lysine (K)-specific demethylase 5C
17
Lysine-specific demethylase 6B
14
KH domain containing, RNA binding, signal transduction associated 2
106
KH domain containing, RNA binding, signal transduction associated 3
15
KIAA1586
5
kinesin family member 5C
12
kinesin light chain 2
22
lysine (K)-specific methyltransferase 2A
3
lysine methyltransferase 2C
2
lysine (K)-specific methyltransferase 2E
32
kaptin (actin binding protein)
30
laminin, beta 1
18
LEP
Beta-secretase 1
1
LIM homeobox transcription factor 1, beta
27
low density lipoprotein receptor-related protein 2
78
leucine-rich pentatricopeptide repeat containing
3
leucine rich repeat containing 1
16
leucine zipper, putative tumor suppressor 2
235
MACRO domain containing 2
4
melanoma antigen family D, 1
34
MAGE-like 2
7
monoamine oxidase A
4
Microtubule-associated protein 2
6
mitogen-activated protein kinase 1
7
mitogen-activated protein kinase 12
6
mitogen-activated protein kinase 3
31
mitogen-activated protein kinase 8 interacting protein 2
6
MAP/microtubule affinity-regulating kinase 1
10
methyl-CpG binding domain protein 1
32
methyl-CpG binding domain protein 3
47
methyl-CpG binding domain protein 4
9
methyl-CpG binding domain protein 5
20
melanocortin 4 receptor
1
microcephalin 1
12
MAM domain containing glycosylphosphatidylinositol anchor 2
1
methyl CpG binding protein 2 (Rett syndrome)
522
mediator complex subunit 13-like
21
myocyte enhancer factor 2C
14
MET
met proto-oncogene (hepatocyte growth factor receptor)
142
mindbomb E3 ubiquitin protein ligase 1
364
MSN
moesin
88
macrophage scavenger receptor 1
19
metal-regulatory transcription factor 1
3
mechanistic target of rapamycin (serine/threonine kinase)
41
metaxin 2
10
N(alpha)-acetyltransferase 15, NatA auxiliary subunit
14
neurobeachin
120
NCK-associated protein 1
43
NCK-associated protein 5-like
4
NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5, 13kDa
17
NEL-like 1 (chicken)
22
neogenin 1
10
NF1
neurofibromin 1
40
ninein-like
43
Nipped-B homolog (Drosophila)
18
neuroligin 1
21
neuroligin 2
18
neuroligin 3
95
neuroligin 4, X-linked
5
nitric oxide synthase 1 (neuronal)
12
nitric oxide synthase 1 (neuronal) adaptor protein
34
nitric oxide synthase 2, inducible
41
neuronal PAS domain protein 2
14
neuronal cell adhesion molecule
6
Pro-neuregulin-1, membrane-bound isoform
41
neuropilin 2
43
neurexin 1
76
Neurexin-2
12
neurexin 3
34
nuclear receptor binding SET domain protein 1
383
netrin G1
5
neurotrophic tyrosine kinase, receptor, type 1
2
neurotrophic tyrosine kinase, receptor, type 3
34
OGT
O-linked N-acetylglucosamine (GlcNAc) transferase
15
oligophrenin 1
9
OTU domain containing 7A
1
OXT
oxytocin, prepropeptide
8
oxytocin receptor
13
platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)
14
PAH
phenylalanine hydroxylase
4
paired box 6
347
protocadherin 10
10
protocadherin 19
5
protocadherin 9
7
protocadherin gamma subfamily A, 11
10
period homolog 1 (Drosophila)
46
PHD finger protein 2
5
PHD finger protein 8
35
Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit gamma isoform
2
paired-like homeodomain 1
23
plasminogen activator, urokinase receptor
108
PLN
phospholamban
13
plexin A4
7
pogo transposable element with ZNF domain
38
protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase
19
paraoxonase 1
10
POU class 3 homeobox 2
1
protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1
16
protein phosphatase 1, regulatory (inhibitor) subunit 1B
19
Phosphatidylinositol 3,4,5-trisphosphate-dependent Rac exchanger 1 protein
1
prickle homolog 1 (Drosophila)
13
prickle homolog 2 (Drosophila)
17
protein kinase C, beta
37
pleckstrin and Sec7 domain containing 3
8
patched domain containing 1
1
phosphatase and tensin homolog
184
Prostaglandin G/H synthase 2
2
protein tyrosine kinase 7
3
protein tyrosine phosphatase, non-receptor type 11
27
peroxidasin homolog (Drosophila)
21
RAB39B, member RAS oncogene family
29
retinoic acid induced 1
15
Rap guanine nucleotide exchange factor (GEF) 4
17
Ras association (RalGDS/AF-6) domain family member 5
18
RB1-inducible coiled-coil 1
40
RNA binding protein, fox-1 homolog (C. elegans) 1
494
receptor accessory protein 3
3
reelin
12
regulator of G-protein signaling 7
6
Rhox homeobox family, member 1
2
regulating synaptic membrane exocytosis 1
14
regulating synaptic membrane exocytosis 3
3
roundabout, axon guidance receptor, homolog 1 (Drosophila)
3
roundabout, axon guidance receptor, homolog 2 (Drosophila)
5
ribosomal protein L10
15
ribosomal protein S6 kinase, 90kDa, polypeptide 2
18
SATB homeobox 2
51
SET binding factor 1
18
Sodium channel protein type 1 subunit alpha
3
sodium channel, voltage-gated, type II, alpha subunit
17
sodium channel, voltage-gated, type V, alpha subunit
5
sodium channel, voltage gated, type VIII, alpha subunit
14
syndecan 2
68
sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A
2
serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1
3
SET binding protein 1
17
SET domain containing 2
26
SET domain containing 5
17
Seizure 6-like protein 2
7
SH3-domain kinase binding protein 1
33
SH3 and multiple ankyrin repeat domains 1
20
SH3 and multiple ankyrin repeat domains 2
27
SH3 and multiple ankyrin repeat domains 3
183
SIN3 homolog A, transcription regulator (yeast)
25
Solute carrier family 12 member 5
7
solute carrier family 16, member 3 (monocarboxylic acid transporter 4)
8
solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1
38
solute carrier family 25 (aspartate/glutamate carrier), member 12
11
solute carrier family 38, member 10
8
solute carrier family 4, sodium bicarbonate transporter, member 10
3
solute carrier family 6 (neurotransmitter transporter, dopamine), member 3
17
solute carrier family 6 (neurotransmitter transporter, serotonin), member 4
7
solute carrier family 6 (neurotransmitter transporter, creatine), member 8
9
solute carrier family 9 (sodium/hydrogen exchanger), member 6
32
solute carrier family 9 (sodium/hydrogen exchanger), member 9
3
Slit homolog 3 protein
1
SLIT and NTRK-like protein 5
7
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2
24
smg-6 homolog, nonsense mediated mRNA decay factor (C. elegans)
10
Synaptosomal-associated protein 25
15
staphylococcal nuclease and tudor domain containing 1
26
small nuclear ribonucleoprotein polypeptide N
127
syntrophin, gamma 2
18
sorting nexin 14
18
superoxide dismutase 1, soluble
8
SRY (sex determining region Y)-box 5
34
SPARC-like 1 (hevin)
5
serine/arginine repetitive matrix 4
34
ST7
suppression of tumorigenicity 7
25
serine threonine kinase 39
13
syntaxin 1A (brain)
28
succinate-CoA ligase, GDP-forming, beta subunit
10
Synapsin-1
12
synapsin III
2
spectrin repeat containing, nuclear envelope 1
34
synaptic Ras GTPase activating protein 1
19
synaptotagmin XVII
21
synaptotagmin III
19
TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa
6
TBC1 domain family, member 5
14
transducin (beta)-like 1X-linked
29
transducin (beta)-like 1 X-linked receptor 1
49
T-box, brain, 1
82
transcription factor 4
167
transcription factor 7-like 2 (T-cell specific, HMG-box)
42
tryptophan 2,3-dioxygenase
23
telomeric repeat binding factor 2
147
TH
Tyrosine 3-monooxygenase
10
thyroid hormone receptor, alpha
10
tousled-like kinase 2
11
trimethyllysine hydroxylase, epsilon
4
trinucleotide repeat containing 6B
35
translocase of outer mitochondrial membrane 20 homolog (yeast)
4
topoisomerase (DNA) I
159
topoisomerase (DNA) III beta
1986
tripartite motif containing 33
15
triple functional domain (PTPRF interacting)
7
thyroid hormone receptor interactor 12
30
Short transient receptor potential channel 6
2
tuberous sclerosis 1
118
tuberous sclerosis 2
104
TSN
translin
4
tetraspanin 7
6
TELO2 interacting protein 2
2
ubiquitin-conjugating enzyme E2H
19
ubiquitin protein ligase E3A
166
thyroid hormone receptor interactor 12
4
ubiquitin protein ligase E3C
6
ubiquitin protein ligase E3 component n-recognin 5
15
UPF3 regulator of nonsense transcripts homolog B (yeast)
40
ubiquitin specific peptidase 7 (herpes virus-associated)
41
vasohibin 1
7
VIP
VIP peptides
8
vacuolar protein sorting 13 homolog B (yeast)
14
WAC
WW domain containing adaptor with coiled-coil
95
WD repeat and FYVE domain containing 3
37
WNK lysine deficient protein kinase 3
4
XPC
xeroderma pigmentosum, complementation group C
56
exportin 1 (CRM1 homolog, yeast)
6
YTH domain containing 2
24
tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide
34
zinc finger and BTB domain containing 20
18
zinc finger, MYND-type containing 11
39
zinc finger protein 18
10
zinc finger protein 827
1
alkylglycerol monooxygenase
0
centrosomal protein 41kDa
0
Heparan sulfate glucosamine 3-O-sulfotransferase 5
0
X-linked interleukin-1 receptor accessory protein-like 2
0
Leucine-rich repeat and fibronectin type-III domain-containing protein 5
0
olfactory receptor, family 1, subfamily C, member 1
0
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