geno logo
     HELP     Sign In

Quick Links

TOOLS

 

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