HELP     Sign In

 

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
N
2 4 Barnby G , et al. 2005 Edit
GEN749 ABCA10 ATP-binding cassette, sub-family A (ABC1), member 10 17q24.3 Rare single gene variant
N
Yes 4 1 Lim ET , et al. 2013 Edit
GEN988 ABCA13 ATP binding cassette subfamily A member 13 7p12.3 Rare single gene variant
N
5 5 Neale BM , et al. 2012 Edit
GEN590 ABCA7 ATP-binding cassette, sub-family A (ABC1), member 7 19p13.3 Rare single gene variant
N
11 2 He Z , et al. 2013 Edit
GEN822 ACE angiotensin I converting enzyme 17q23.3 Rare single gene variant
N
3 2 Dome JS and D'Angio GJ 2016 Edit
GEN771 ACHE Acetylcholinesterase (Yt blood group) 7q22.1 Rare single gene variant
N
3 4 Sanders SJ , et al. 2015 Edit
GEN672 ACTN4 Actinin, alpha 4 19q13.2 Rare single gene variant
N
3 3 Li J , et al. 2015 Edit
GEN573 ACY1 Aminoacylase 1 3p21.2 Syndromic
N
Yes 3 5 Tylki-Szymanska A , et al. 2010 Edit
GEN002 ADA adenosine deaminase 20q13.12 Genetic Association
N
4 6 Bottini N , et al. 2001 Edit
GEN567 ADAMTS18 ADAM metallopeptidase with thrombospondin type 1 motif 18 16q23.1 Rare single gene variant
N
Yes 3 3 Peluso I , et al. 2013 Edit
GEN407 ADARB1 Adenosine deaminase, RNA-specific, B1 21q22.3 Functional
N
1 2 Eran A , et al. 2012 Edit
GEN890 ADCY3 adenylate cyclase 3 2p23.3 Rare single gene variant
N
4 2 De Rubeis S , et al. 2014 Edit
GEN470 ADCY5 Adenylate cyclase 5 3q21.1 Rare Single Gene variant
N
7 6 O'Roak BJ , et al. 2012 Edit
GEN274 ADK adenosine kinase 10q22.2 Rare Single Gene variant
N
Yes 2 2 Najmabadi H , et al. 2011 Edit
GEN471 ADNP Activity-dependent neuroprotector homeobox 20q13.13 Rare Single Gene variant
N
47 25 O'Roak BJ , et al. 2012 Edit
GEN003 ADORA2A adenosine A2a receptor 22q11.23 Syndromic
N
2 7 Freitag CM , et al. 2009 Edit
GEN562 ADORA3 Adenosine A3 receptor 1p13.2 Functional
N
6 2 Campbell NG , et al. 2013 Edit
GEN004 ADRB2 adrenergic, beta-2-, receptor, surface 5q32 Genetic Association
N
4 10 Cheslack-Postava K , et al. 2007 Edit
GEN005 ADSL adenylosuccinate lyase 22q13.1 Rare Single Gene variant
N
4 6 Sivendran S , et al. 2004 Edit
GEN289 AFF2 AF4/FMR2 family, member 2 Xq28 Syndromic
N
33 14 Abrams MT , et al. 1997 Edit
GEN006 AFF4 AF4/FMR2 family, member 4 5q31.1 Rare Single Gene variant
N
4 7 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
N
13 8 Wassink TH , et al. 2005 Edit
GEN889 AGAP2 ArfGAP with GTPase domain, ankyrin repeat and PH domain 2 12q14.1 Rare single gene variant
N
11 3 De Rubeis S , et al. 2014 Edit
GEN333 AGBL4 ATP/GTP binding protein-like 4 1p33 Rare Single Gene variant
N
16 3 Pinto D , et al. 2010 Edit
GEN253 AGMO alkylglycerol monooxygenase 7p21.2 Genetic Association
N
5 5 Sebat J , et al. 2007 Edit
GEN1003 AGO1 argonaute 1, RISC catalytic component 1p34.3 Rare single gene variant
N
2 2 Iossifov I , et al. 2014 Edit
GEN007 AGTR2 angiotensin II receptor, type 2 Xq23 Rare Single Gene variant
N
6 3 Vervoort VS , et al. 2002 Edit
GEN824 AHDC1 AT-hook DNA binding motif containing 1 1p36.11-p35.3 Syndromic
N
32 9 Iossifov I , et al. 2014 Edit
GEN008 AHI1 Abelson helper integration site 1 6q23.3 Rare Single Gene variant
N
24 18 Alvarez Retuerto AI , et al. 2008 Edit
GEN761 AKAP9 A kinase (PRKA) anchor protein 9 7q21.2 Rare single gene variant
N
4 4 Sanders SJ , et al. 2015 Edit
GEN510 ALDH1A3 aldehyde dehydrogenase 1 family member A3 15q26.3 Syndromic
N
Yes 9 5 Fares-Taie L , et al. 2013 Edit
GEN009 ALDH5A1 aldehyde dehydrogenase 5 family, member A1 (succinate-semialdehyde dehydrogenase ) 6p22.3 Syndromic
N
Yes 6 9 Pearl PL , et al. 2003 Edit
GEN830 ALG6 ALG6, alpha-1,3-glucosyltransferase 1p31.3 Syndromic
N
0 1 Morava E , et al. 2016 Edit
GEN010 ALOX5AP arachidonate 5-lipoxygenase-activating protein 13q12.3 Functional
N
0 4 Hu VW , et al. 2006 Edit
GEN981 AMBRA1 autophagy and beclin 1 regulator 1 11p11.2 Functional
N
2 3 Dere E , et al. 2014 Edit
GEN631 AMPD1 Adenosine monophosphate deaminase 1 1p13.2 Genetic association
N
7 3 Xia K , et al. 2013 Edit
GEN526 AMT Aminomethyltransferase 3p21.31 Rare single gene variant
N
Yes 2 1 Yu TW , et al. 2013 Edit
GEN587 ANK2 Ankyrin 2, neuronal 4q25-q26 Rare Single Gene variant
N
69 12 Iossifov I , et al. 2012 Edit
GEN406 ANK3 ankyrin 3 10q21.2 Genetic Association
N
30 23 Bi C , et al. 2012 Edit
GEN011 ANKRD11 ankyrin repeat domain 11 16q24.3 Rare Single Gene variant
N
61 36 Marshall CR , et al. 2008 Edit
GEN673 ANKS1B Ankyrin repeat and sterile alpha motif domain containing 1B 12q23.1 Rare single gene variant
N
3 1 Li J , et al. 2015 Edit
GEN609 ANXA1 Annexin A1 9q21.13 Rare single gene variant
N
12 2 Correia CT , et al. 2014 Edit
GEN531 AP1S2 adaptor related protein complex 1 sigma 2 subunit Xp22.2 Syndromic
N
9 5 Borck G , et al. 2008 Edit
GEN012 APBA2 amyloid beta (A4) precursor protein-binding, family A, member 2 15q13.1 Rare Single Gene variant
N
11 6 Babatz TD , et al. 2009 Edit
GEN1014 APBB1 amyloid beta precursor protein binding family B member 1 11p15.4 Functional
N
5 3 Iossifov I , et al. 2014 Edit
GEN013 APC adenomatosis polyposis coli 5q22.2 Genetic Association
N
2 9 Barber JC , et al. 1994 Edit
GEN655 APH1A APH1A gamma secretase subunit 1q21.2 Rare single gene variant
N
3 2 De Rubeis S , et al. 2014 Edit
GEN570 APP Amyloid beta (A4) precursor protein 21q21.3 Functional
N
0 3 Bailey AR , et al. 2013 Edit
GEN014 AR androgen receptor Xq12 Genetic Association
N
3 6 Henningsson S , et al. 2009 Edit
GEN317 ARHGAP11B Rho GTPase activating protein 11B 15q13.2 Rare Single Gene variant
N
2 1 Leblond CS , et al. 2012 Edit
GEN015 ARHGAP15 Rho GTPase activating protein 15 2q22.2-q22.3 Rare Single Gene variant
N
4 7 O'Roak BJ , et al. 2011 Edit
GEN424 ARHGAP24 Rho GTPase activating protein 24 4q21.23-q21.3 Rare single gene variant
N
1 1 Winiowiecka-Kowalnik B , et al. 2012 Edit
GEN816 ARHGAP32 Rho GTPase activating protein 32 11q24.3 Multigenic CNV
N
22 4 Akshoomoff N , et al. 2014 Edit
GEN713 ARHGAP33 Rho GTPase activating protein 33 19q13.12 Functional
N
1 2 Schuster S , et al. 2015 Edit
GEN1002 ARHGAP5 Rho GTPase activating protein 5 14q12 Rare single gene variant
N
2 3 Iossifov I , et al. 2014 Edit
GEN1007 ARHGEF10 Rho guanine nucleotide exchange factor 10 8p23.3 Rare single gene variant
N
5 3 Lu DH , et al. 2018 Edit
GEN715 ARHGEF9 Cdc42 guanine nucleotide exchange factor (GEF) 9 Xq11.1-q11.2 Rare single gene variant
N
21 7 Machado CO , et al. 2015 Edit
GEN357 ARID1B AT-rich interaction domain 1B 6q25.3 Rare single gene variant
N
94 35 Nord AS , et al. 2011 Edit
GEN016 ARNT2 aryl-hydrocarbon receptor nuclear translocator 2 15q25.1 Syndromic
N
7 11 Chakrabarti B , et al. 2009 Edit
GEN017 ARX aristaless related homeobox Xp21.3 Rare single gene variant
N
34 15 Sherr EH 2003 Edit
GEN642 ASH1L Ash1 (absent, small, or homeotic)-like (Drosophila) 1q22 Rare single gene variant
N
41 12 Willsey AJ , et al. 2013 Edit
GEN018 ASMT acetylserotonin O-methyltransferase Xp22.33 Rare Single Gene variant, Genetic Association
N
20 9 Melke J , et al. 2007 Edit
GEN939 ASPM abnormal spindle microtubule assembly 1q31.3 Syndromic
N
55 5 Iossifov I , et al. 2014 Edit
GEN019 ASS1 argininosuccinate synthetase 9q34.11 Functional
N
0 3 Hu VW , et al. 2006 Edit
GEN020 ASTN2 astrotactin 2 9q33.1 Rare Single Gene variant
N
28 12 Glessner JT , et al. 2009 Edit
GEN577 ASXL3 Additional sex combs like 3 (Drosophila) 18q12.1 Syndromic
N
54 17 Dinwiddie DL , et al. 2013 Edit
GEN623 ATG7 Autophagy related 7 3p25.3 Functional
N
0 2 Tang G , et al. 2014 Edit
GEN021 ATP10A Probable phospholipid-transporting ATPase VA 15q12 Genetic Association
N
9 7 Nurmi EL , et al. 2003 Edit
GEN829 ATP1A3 ATPase Na+/K+ transporting subunit alpha 3 19q13.2 Syndromic
N
13 12 Demos MK , et al. 2014 Edit
GEN273 ATP2B2 ATPase, Ca++ transporting, plasma membrane 2 3p25.3 Genetic Association
N
13 9 Carayol J , et al. 2011 Edit
GEN941 ATP6V0A2 ATPase H+ transporting V0 subunit a2 12q24.31 Rare single gene variant
N
20 2 Krumm N , et al. 2015 Edit
GEN831 ATP8A1 ATPase phospholipid transporting 8A1 4p13 Rare single gene variant
N
1 2 Kerr DJ , et al. 2016 Edit
GEN411 ATRNL1 Attractin-like 1 10q25.3 Rare single gene variant
N
1 1 Stark Z , et al. 2010 Edit
GEN288 ATRX alpha thalassemia/mental retardation syndrome X-linked Xq21.1 Syndromic
N
29 17 Gibbons R 2006 Edit
GEN384 ATXN7 Ataxin 7 3p14.1 Rare single gene variant
N
1 1 van Daalen E , et al. 2011 Edit
GEN022 AUTS2 autism susceptibility candidate 2 7q11.22 Rare Single Gene variant
N
80 32 Sultana R , et al. 2002 Edit
GEN788 AVP Arginine vasopressin 20p13 Functional
N
2 4 Feifel D , et al. 2009 Edit
GEN023 AVPR1A arginine vasopressin receptor 1A 12q14.2 Rare Single Gene variant, Genetic Association
N
34 21 Yirmiya N , et al. 2006 Edit
GEN862 AVPR1B arginine vasopressin receptor 1B 1q32.1 Functional
N
5 8 Francis SM , et al. 2016 Edit
GEN924 AZGP1 alpha-2-glycoprotein 1, zinc-binding 7q22.1 Rare single gene variant
N
3 2 Lim ET , et al. 2017 Edit
GEN024 BAIAP2 BAI1-associated protein 2 17q25.3 Genetic Association
N
5 10 Toma C , et al. 2010 Edit
GEN975 BAZ2B bromodomain adjacent to zinc finger domain 2B 2q24.2 Rare single gene variant
N
4 3 Iossifov I , et al. 2014 Edit
GEN515 BBS4 Bardet-Biedl syndrome 4 15q24.1 Rare single gene variant
N
4 3 Girirajan S , et al. 2013 Edit
GEN674 BCAS1 Breast carcinoma amplified sequence 1 20q13.2 Rare single gene variant
N
3 2 Li J , et al. 2015 Edit
GEN423 BCKDK Branched chain ketoacid dehydrogenase kinase 16p11.2 Rare single gene variant
N
Yes 5 3 Novarino G , et al. 2012 Edit
GEN643 BCL11A B-cell CLL/lymphoma 11A (zinc finger protein) 2p16.1 Rare single gene variant
N
32 16 Iossifov I , et al. 2012 Edit
GEN025 BCL2 B-cell CLL/lymphoma 2 18q21.33 Functional
N
0 10 Nguyen A , et al. 2010 Edit
GEN625 BDNF Brain-derived neurotrophic factor 11p14.1 Functional
N
1 10 Kyzar EJ , et al. 2012 Edit
GEN040 BICDL1 BICD family like cargo adaptor 1 12q24.23 Genetic Association
N
2 2 Wang K , et al. 2009 Edit
GEN425 BIN1 Bridging integrator 1 2q14.3 Rare single gene variant
N
4 3 Connolly JJ , et al. 2012 Edit
GEN702 BIRC6 Baculoviral IAP repeat containing 6 2p22.3 Rare single gene variant
N
34 7 Iossifov I , et al. 2012 Edit
GEN595 BRAF v-raf murine sarcoma viral oncogene homolog B 7q34 Syndromic
N
11 7 Alfieri P , et al. 2014 Edit
GEN337 BRCA2 breast cancer 2, early onset 13q13.1 Rare Single Gene variant
N
4 3 Neale BM , et al. 2012 Edit
GEN970 BRD4 bromodomain containing 4 19p13.12 Rare single gene variant
N
7 4 Iossifov I , et al. 2012 Edit
GEN820 BRINP1 BMP/retinoic acid inducible neural specific 1 9q33.1 Functional
N
0 2 Kobayashi M , et al. 2014 Edit
GEN902 BST1 bone marrow stromal cell antigen 1 4p15.32 Multigenic CNV
N
4 5 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
N
6 5 Salyakina D , et al. 2011 Edit
GEN544 C12orf57 Chromosome 12 open reading frame 57 12p13.31 Syndromic
N
32 10 Akizu N , et al. 2013 Edit
GEN955 C15orf62 chromosome 15 open reading frame 62 15q15.1 Rare single gene variant
N
2 2 O'Roak BJ , et al. 2012 Edit
GEN028 C3orf58 chromosome 3 open reading frame 58 3q24 Rare Single Gene variant
N
3 3 Morrow EM , et al. 2008 Edit
GEN029 C4B complement component 4B 6p21.33 Genetic Association
N
1 5 Odell D , et al. 2005 Edit
GEN030 CA6 carbonic anhydrase VI 1p36.23 Rare Single Gene variant
N
4 6 Bucan M , et al. 2009 Edit
GEN707 CACNA1A Calcium channel, voltage-dependent, P/Q type, alpha 1A subunit 19p13.13 Rare single gene variant
N
17 11 Damaj L , et al. 2015 Edit
GEN408 CACNA1B calcium voltage-gated channel subunit alpha1 B 9q34.3 Genetic association
N
18 7 Yatsenko SA , et al. 2012 Edit
GEN031 CACNA1C calcium channel, voltage-dependent, L type, alpha 1C subunit 12p13.33 Syndromic
N
39 39 Splawski I , et al. 2004 Edit
GEN032 CACNA1D calcium channel, voltage-dependent, L type, alpha 1D 3p21.1 Functional
N
46 17 Jinnah HA , et al. 1999 Edit
GEN813 CACNA1E calcium voltage-gated channel subunit alpha1 E 1q25.3 Rare single gene variant
N
4 8 O'Roak BJ , et al. 2012 Edit
GEN033 CACNA1F calcium channel, voltage-dependent, alpha 1F Xp11.23 Genetic Association
N
6 7 Strom TM , et al. 1998 Edit
GEN034 CACNA1G calcium channel, voltage-dependent, T type, alpha 1G subunit 17q21.33 Genetic Association
N
32 18 Strom SP , et al. 2009 Edit
GEN035 CACNA1H calcium channel, voltage-dependent, alpha 1H subunit 16p13.3 Rare Single Gene variant
N
22 21 Splawski I , et al. 2006 Edit
GEN488 CACNA1I Calcium channel, voltage-dependent, T type, alpha 1I subunit 22q13.1 Genetic association
N
7 6 Lu AT , et al. 2012 Edit
GEN656 CACNA2D3 Calcium channel, voltage-dependent, alpha 2/delta subunit 3 3p21.1-p14.3 Rare single gene variant
N
13 5 Iossifov I , et al. 2012 Edit
GEN612 CACNB2 Calcium channel, voltage-dependent, beta 2 subunit 10p12.33-p12.31 Genetic association
N
6 4 Breitenkamp AF , et al. 2014 Edit
GEN036 CADM1 cell adhesion molecule 1 11q23.3 Rare Single Gene variant
N
5 9 Zhiling Y , et al. 2008 Edit
GEN670 CADM2 Cell adhesion molecule 2 3p12.1 Genetic association
N
1 3 Casey JP , et al. 2011 Edit
GEN037 CADPS2 Ca2+-dependent activator protein for secretion 2 7q31.32 Rare Single Gene variant
N
23 12 Cisternas FA , et al. 2003 Edit
GEN864 CAMK2A calcium/calmodulin dependent protein kinase II alpha 5q32 Rare single gene variant
N
20 7 Iossifov I , et al. 2014 Edit
GEN985 CAMK2B calcium/calmodulin dependent protein kinase II beta 7p13 Syndromic
N
13 4 Kry S , et al. 2017 Edit
GEN594 CAMK4 Calcium/calmodulin-dependent protein kinase IV 5q22.1 Genetic association
N
1 1 Waltes R , et al. 2014 Edit
GEN322 CAMSAP2 calmodulin regulated spectrin-associated protein family, member 2 1q32.1 Rare Single Gene variant
N
1 1 Leblond CS , et al. 2012 Edit
GEN291 CAMTA1 calmodulin binding transcription activator 1 1p36.31-p36.23 Rare single gene variant
N
11 7 Mikhail FM , et al. 2011 Edit
GEN772 CAPN12 Calpain 12 19q13.2 Rare single gene variant
N
28 4 Sanders SJ , et al. 2015 Edit
GEN555 CAPRIN1 Cell cycle associated protein 1 11p13 Functional
N
1 3 Jiang YH , et al. 2013 Edit
GEN928 CARD11 caspase recruitment domain family member 11 7p22.2 Rare single gene variant
N
2 1 Lim ET , et al. 2017 Edit
GEN038 CASC4 cancer susceptibility candidate 4 15q15.3 Rare Single Gene variant
N
7 4 Pinto D , et al. 2010 Edit
GEN876 CASK calcium/calmodulin dependent serine protein kinase Xp11.4 Syndromic
N
23 12 Iossifov I , et al. 2014 Edit
GEN897 CBLN1 cerebellin 1 precursor 16q12.1 Functional
N
1 6 Krishnan V , et al. 2017 Edit
GEN039 CBS cystathionine beta-synthase 21q22.3 Functional, Negative association
N
2 5 Levy HL , et al. 2002 Edit
GEN621 CC2D1A Coiled-coil and C2 domain containing 1A 19p13.12 Rare single gene variant
N
Yes 17 9 Manzini MC , et al. 2014 Edit
GEN735 CCDC88C Coiled-coil domain containing 88C 14q32.11-q32.12 Rare single gene variant
N
6 5 Krumm N , et al. 2015 Edit
GEN799 CCDC91 coiled-coil domain containing 91 12p11.22 Rare single gene variant
N
2 3 Shen Y , et al. 2010 Edit
GEN752 CCT4 Chaperonin containing TCP1, subunit 4 (delta) 2p15 Rare single gene variant
N
2 3 Iossifov I , et al. 2014 Edit
GEN969 CD276 CD276molecule 15q24.1 Rare single gene variant
N
3 1 Li J , et al. 2017 Edit
GEN328 CD38 CD38 molecule 4p15.32 Genetic Association
N
11 7 Munesue T , et al. 2010 Edit
GEN041 CD44 CD44 molecule (Indian blood group) 11p13 Functional
N
1 4 Hu VW , et al. 2006 Edit
GEN380 CD99L2 CD99 molecule like 2 Xq28 Genetic association
N
2 1 Ramos PS , et al. 2012 Edit
GEN657 CDC42BPB CDC42 binding protein kinase beta (DMPK-like) 14q32.32 Rare single gene variant
N
19 6 O'Roak BJ , et al. 2012 Edit
GEN042 CDH10 cadherin 10, type 2 (T2-cadherin) 5p14.2-p14.1 Genetic Association
N
16 9 Wang K , et al. 2009 Edit
GEN615 CDH11 cadherin 11 16q21 Rare Single Gene variant/genetic association
N
8 3 Crepel A , et al. 2014 Edit
GEN043 CDH22 cadherin-like 22 20q13.12 Genetic Association
N
2 4 Wang K , et al. 2009 Edit
GEN044 CDH8 cadherin 8, type 2 16q21 Rare Single Gene variant
N
8 9 Pagnamenta AT , et al. 2010 Edit
GEN045 CDH9 cadherin 9, type 2 (T1-cadherin) 5p14.1 Genetic Association
N
14 6 Wang K , et al. 2009 Edit
GEN982 CDK13 cyclin dependent kinase 13 7p14.1 Rare single gene variant
N
43 6 Hamilton MJ , et al. 2017 Edit
GEN046 CDKL5 cyclin-dependent kinase-like 5 Xp22.13 Syndromic
N
Yes 81 31 Weaving LS , et al. 2004 Edit
GEN532 CDKN1B cyclin dependent kinase inhibitor 1B 12p13.1 Multigenic CNV/rare single gene variant
N
Yes 2 1 Grey W , et al. 2013 Edit
GEN507 CECR2 CECR2, histone acetyl-lysine reader 22q11.1-q11.21 Rare single gene variant
N
4 2 Prasad A , et al. 2013 Edit
GEN487 CELF4 CUGBP, Elav-like family member 4 18q12.2 Functional
N
5 9 Halgren C , et al. 2012 Edit
GEN523 CELF6 CUGBP, Elav-like family member 6 15q23 Genetic association/Rare single gene variant/Functional
N
3 2 Dougherty JD , et al. 2013 Edit
GEN958 CEP135 centrosomal protein 135 4q12 Syndromic
N
29 6 De Rubeis S , et al. 2014 Edit
GEN583 CEP290 Centrosomal protein 290kDa 12q21.32 Syndromic
N
10 6 Coppieters F , et al. 2010 Edit
GEN257 CEP41 testis specific, 14 7q32.2 Rare Single Gene variant
N
3 3 Korvatska O , et al. 2011 Edit
GEN718 CGNL1 Cingulin-like 1 15q21.3 Rare single gene variant
N
3 3 Krumm N , et al. 2015 Edit
GEN971 CHD1 chromodomain helicase DNA binding protein 1 5q15-q21.1 Rare single gene variant
N
7 3 Neale BM , et al. 2012 Edit
GEN548 CHD2 Chromodomain helicase DNA binding protein 2 15q26.1 Multigenic CNV
N
45 27 Carvill GL , et al. 2013 Edit
GEN912 CHD5 chromodomain helicase DNA binding protein 5 1p36.31 Rare single gene variant
N
2 4 Pisansky MT , et al. 2017 Edit
GEN280 CHD7 chromodomain helicase DNA binding protein 7 8q12.2 Syndromic
N
31 22 Vissers LE , et al. 2004 Edit
GEN334 CHD8 chromodomain helicase DNA binding protein 8 14q11.2 Rare Single Gene variant
N
77 27 O'Roak BJ , et al. 2012 Edit
GEN741 CHKB Choline kinase beta 22q13.33 Syndromic
N
21 4 Haliloglu G , et al. 2015 Edit
GEN949 CHMP1A charged multivesicular body protein 1A 16q24.3 Syndromic
N
8 5 De Rubeis S , et al. 2014 Edit
GEN490 CHRM3 cholinergic receptor muscarinic 3 1q43 Multigenic CNV
N
6 5 Petersen AK , et al. 2012 Edit
GEN292 CHRNA7 cholinergic receptor, nicotinic, alpha 7 15q13.3 Multigenic CNV
N
30 13 Mikhail FM , et al. 2011 Edit
GEN498 CHRNB3 cholinergic receptor nicotinic beta 3 subunit 8p11.21 Rare single gene variant
N
2 1 Prasad A , et al. 2013 Edit
GEN048 CHST5 carbohydrate sulfotransferase 5 16q23.1 Rare Single Gene variant
N
1 5 O'Roak BJ , et al. 2011 Edit
GEN500 CIB2 Calcium and integrin binding family member 2 15q25.1 Rare single gene variant
N
3 1 Prasad A , et al. 2013 Edit
GEN882 CIC capicua transcriptional repressor 19q13.2 Rare single gene variant
N
9 4 Iossifov I , et al. 2014 Edit
GEN891 CLASP1 cytoplasmic linker associated protein 1 2q14.2-q14.3 Rare single gene variant
N
4 3 De Rubeis S , et al. 2014 Edit
GEN710 CLN8 Ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation) 8p23.3 Syndromic
N
8 3 Egawa J , et al. 2015 Edit
GEN917 CLSTN2 calsyntenin 2 3q23 Functional
N
Yes 1 4 Monies D , et al. 2017 Edit
GEN579 CLSTN3 Calsyntenin 3 12p13.31 Functional
N
1 2 Pettem KL , et al. 2013 Edit
GEN349 CLTCL1 clathrin, heavy chain-like 1 22q11.21 Rare single gene variant
N
Yes 13 5 Chahrour MH , et al. 2012 Edit
GEN382 CMIP c-Maf inducing protein 16q23.2-q23.3 Genetic Association
N
20 6 Van der Aa N , et al. 2012 Edit
GEN925 CNGB3 cyclic nucleotide gated channel beta 3 8q21.3 Rare single gene variant
N
2 2 De Rubeis S , et al. 2014 Edit
GEN865 CNKSR2 connector enhancer of kinase suppressor of Ras 2 Xp22.12 Syndromic
N
10 3 Deciphering Developmental Disorders Study 2017 Edit
GEN866 CNOT3 CCR4-NOT transcription complex subunit 3 19q13.42 Rare single gene variant
N
9 3 Deciphering Developmental Disorders Study 2017 Edit
GEN049 CNR1 cannabinoid receptor 1 (brain) 6q15 Genetic Association
N
33 7 Chakrabarti B , et al. 2006 Edit
GEN537 CNR2 Cannabinoid receptor 2 (macrophage) 1p36.11 Genetic association
N
4 4 Siniscalco D , et al. 2013 Edit
GEN306 CNTN3 contactin 3 (plasmacytoma associated) 3p12.3 Rare Single Gene variant
N
4 5 Vaags AK , et al. 2012 Edit
GEN050 CNTN4 contactin 4 3p26.3-p26.2 Syndromic
N
20 20 Roohi J , et al. 2008 Edit
GEN385 CNTN5 Contactin 5 11q22.1 Rare single gene variant
N
31 9 van Daalen E , et al. 2011 Edit
GEN386 CNTN6 Contactin 6 3p26.3 Rare single gene variant
N
56 11 van Daalen E , et al. 2011 Edit
GEN051 CNTNAP2 contactin associated protein-like 2 7q35-q36.1 Syndromic
N
116 59 Arking DE , et al. 2008 Edit
GEN307 CNTNAP3 contactin associated protein-like 3 9p12 Rare Single Gene variant
N
2 2 Vaags AK , et al. 2012 Edit
GEN616 CNTNAP4 Contactin associated protein-like 4 16q23.1 Rare Single Gene variant
N
19 11 Karayannis T , et al. 2014 Edit
GEN052 CNTNAP5 contactin associated protein-like 5 2q14.3 Genetic Association
N
17 11 Pagnamenta AT , et al. 2010 Edit
GEN964 COL28A1 collagen type XXVIII alpha 1 chain 7p21.3 Rare single gene variant
N
38 2 Krumm N , et al. 2015 Edit
GEN963 CPT2 carnitine palmitoyltransferase 2 1p32.3 Rare single gene variant
N
5 2 Li J , et al. 2017 Edit
GEN285 CREBBP CREB binding protein 16p13.3 Syndromic
N
82 21 Barnby G , et al. 2005 Edit
GEN844 CRHR2 corticotropin releasing hormone receptor 2 7p14.3 Functional
N
0 3 Shemesh Y , et al. 2016 Edit
GEN596 CSMD1 CUB and Sushi multiple domains 1 8p23.2 Rare Single Gene variant
N
13 11 Cukier HN , et al. 2014 Edit
GEN330 CSNK1D casein kinase 1, delta 17q25.3 Rare Single Gene variant
N
2 1 Pinto D , et al. 2010 Edit
GEN996 CSNK1E casein kinase 1 epsilon 22q13.1 Functional
N
2 5 De Rubeis S , et al. 2014 Edit
GEN549 CTCF CCCTC-binding factor 16q22.1 Functional
N
14 12 Ishihara K , et al. 2006 Edit
GEN053 CTNNA3 catenin (cadherin-associated protein), alpha 3 10q21.3 Genetic Association
N
Yes 56 14 Wang K , et al. 2009 Edit
GEN472 CTNNB1 catenin beta 1 3p22.1 Rare Single Gene variant
N
32 20 O'Roak BJ , et al. 2012 Edit
GEN711 CTNND2 Catenin (cadherin-associated protein), delta 2 5p15.2 Rare single gene variant
N
16 4 Turner TN , et al. 2015 Edit
GEN054 CTTNBP2 cortactin binding protein 2 7q31.31 Rare Single Gene variant
N
28 6 Cheung J , et al. 2001 Edit
GEN409 CUL3 Cullin 3 2q36.2 Rare single gene variant
N
17 14 O'Roak BJ , et al. 2012 Edit
GEN719 CUL7 Cullin 7 6p21.1 Rare single gene variant
N
11 3 Iossifov I , et al. 2014 Edit
GEN847 CUX1 cut like homeobox 1 7q22.1 Functional
N
Yes 3 3 Doan RN , et al. 2016 Edit
GEN1011 CUX2 cut like homeobox 2 12q24.11-q24.12 Rare single gene variant
N
11 7 De Rubeis S , et al. 2014 Edit
GEN599 CX3CR1 Chemokine (C-X3-C motif) receptor 1 3p22.2 Functional
N
8 3 Zhan Y , et al. 2014 Edit
GEN055 CXCR3 chemokine (C-X-C motif) receptor 3 Xq13.1 Rare Single Gene variant
N
3 8 Piton A , et al. 2010 Edit
GEN320 CYFIP1 cytoplasmic FMR1 interacting protein 1 15q11.2 Multigenic CNV
N
9 15 Leblond CS , et al. 2012 Edit
GEN801 CYLC2 cylicin, basic protein of sperm head cytoskeleton 2 9q31.1 Rare single gene variant
N
2 3 Levy D , et al. 2011 Edit
GEN056 CYP11B1 cytochrome P450, family 11, subfamily B, polypeptide 1 8q24.3 Syndromic
N
2 4 Chakrabarti B , et al. 2009 Edit
GEN1017 CYP27A1 cytochrome P450 family 27 subfamily A member 1 2q35 Syndromic
N
6 2 Stelten BML , et al. 2017 Edit
GEN057 DAB1 disabled homolog 1 (Drosophila) 1p32.2-p32.1 Functional
N
1 7 Fatemi SH , et al. 2005 Edit
GEN508 DAGLA diacylglycerol lipase alpha 11q12.2 Rare single gene variant
N
37 4 Prasad A , et al. 2013 Edit
GEN058 DAPK1 death-associated protein kinase 1 9q21.33 Functional
N
4 5 Hu VW , et al. 2006 Edit
GEN494 DAPP1 Dual adaptor of phosphotyrosine and 3-phosphoinositides 4q23 Rare single gene variant
N
2 1 Prasad A , et al. 2013 Edit
GEN059 DCTN5 dynactin 5 16p12.2 Rare Single Gene variant
N
1 3 O'Roak BJ , et al. 2011 Edit
GEN060 DCUN1D1 DCN1, defective in cullin neddylation 1, domain containing 1 (S. cerevisiae) 3q26.33 Functional
N
0 3 Mas C , et al. 2000 Edit
GEN061 DCX doublecortex, lissencephaly, X-linked (doublecortin) Xq23 Rare Single Gene variant
N
8 7 Vourc'h P , et al. 2002 Edit
GEN378 DDC dopa decarboxylase 7p12.2-p12.1 Genetic association
N
1 2 Toma C , et al. 2012 Edit
GEN062 DDX11 DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 12p11.21 Functional
N
0 3 Hu VW , et al. 2006 Edit
GEN745 DDX3X DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked Xp11.4 Rare single gene variant
N
60 12 Snijders Blok L , et al. 2015 Edit
GEN332 DDX53 DEAD (Asp-Glu-Ala-Asp) box polypeptide 53 Xp22.11 Rare Single Gene variant
N
7 3 Pinto D , et al. 2010 Edit
GEN610 DEAF1 DEAF1 transcription factor 11p15.5 Rare single gene variant
N
28 14 Vulto-van Silfhout AT , et al. 2014 Edit
GEN825 DENR density-regulated protein 12q24.31 Rare single gene variant
N
2 2 Neale BM , et al. 2012 Edit
GEN541 DEPDC5 DEP domain containing 5 22q12.2-q12.3 Syndromic
N
24 8 Dibbens LM , et al. 2013 Edit
GEN833 DGKK diacylglycerol kinase kappa Xp11.22 Functional
N
0 1 Tabet R , et al. 2016 Edit
GEN675 DGKZ Diacylglycerol kinase, zeta 11p11.2 Rare single gene variant
N
2 2 Li J , et al. 2015 Edit
GEN063 DHCR7 7-dehydrocholesterol reductase 11q13.4 Syndromic
N
21 15 Tierney E , et al. 2001 Edit
GEN987 DHX30 DExH-box helicase 30 3p21.31 Syndromic
N
12 1 Lessel D , et al. 2017 Edit
GEN064 DIAPH3 Diaphanous-related formin 3 13q21.2 Rare Single Gene variant
N
5 11 Vorstman JA , et al. 2010 Edit
GEN644 DIP2A DIP2 disco-interacting protein 2 homolog A (Drosophila) 21q22.3 Rare single gene variant
N
4 4 Iossifov I , et al. 2012 Edit
GEN883 DIP2C disco interacting protein 2 homolog C 10p15.3 Rare single gene variant
N
3 2 Iossifov I , et al. 2014 Edit
GEN065 DISC1 disrupted in schizophrenia 1 1q42.2 Syndromic
N
31 34 Kilpinen H , et al. 2007 Edit
GEN852 DIXDC1 DIX domain containing 1 11q23.1 Functional
N
45 4 Martin PM , et al. 2016 Edit
GEN676 DLG1 discs large MAGUK scaffold protein 1 3q29 Rare single gene variant
N
9 3 Li J , et al. 2015 Edit
GEN412 DLG4 discs large MAGUK scaffold protein 4 17p13.1 Functional
N
12 9 Feyder M , et al. 2010 Edit
GEN677 DLGAP1 DLG associated protein 1 18p11.31 Rare single gene variant
N
11 6 Li J , et al. 2015 Edit
GEN066 DLGAP2 discs, large (Drosophila) homolog-associated protein 2 8p23.3 Rare Single Gene variant
N
25 12 Marshall CR , et al. 2008 Edit
GEN550 DLGAP3 DLG associated protein 3 1p34.3 Functional
N
12 7 Welch JM , et al. 2007 Edit
GEN067 DLX1 distal-less homeobox 1 2q31.1 Genetic Association
N
4 8 Liu X , et al. 2008 Edit
GEN068 DLX2 distal-less homeobox 2 2q31.1 Genetic Association
N
2 11 Liu X , et al. 2008 Edit
GEN069 DLX6 distal-less homeobox 6 7q21.3 Rare Single Gene variant
N
2 9 Nakashima N , et al. 2009 Edit
GEN070 DMD dystrophin (muscular dystrophy, Duchenne and Becker types) Xp21.2-p21.1 Syndromic
N
33 35 Wu JY , et al. 2006 Edit
GEN071 DMPK dystrophia myotonica-protein kinase 19q13.32 Syndromic
N
3 7 Ekstrm AB , et al. 2008 Edit
GEN736 DMXL2 Dmx-like 2 15q21.2 Rare single gene variant
N
3 3 Iossifov I , et al. 2014 Edit
GEN703 DNAH10 Dynein, axonemal, heavy chain 10 12q24.31 Rare single gene variant
N
81 5 Iossifov I , et al. 2012 Edit
GEN937 DNAH17 dynein axonemal heavy chain 17 17q25.3 Rare single gene variant
N
4 4 De Rubeis S , et al. 2014 Edit
GEN966 DNAH3 dynein axonemal heavy chain 3 16p12.3 Rare single gene variant
N
127 3 Krumm N , et al. 2015 Edit
GEN426 DNAJC19 DnaJ heat shock protein family (Hsp40) member C19 3q26.33 Functional
N
0 1 Anitha A , et al. 2012 Edit
GEN395 DNER Delta/notch-like EGF repeat containing 2q36.3 Genetic association
N
3 2 Anney R , et al. 2012 Edit
GEN427 DNM1L Dynamin 1-like 12p11.21 Functional
N
2 3 Anitha A , et al. 2012 Edit
GEN762 DNMT3A DNA (cytosine-5-)-methyltransferase 3 alpha 2p23.3 Rare single gene variant
N
7 7 Sanders SJ , et al. 2015 Edit
GEN748 DOCK1 Dedicator of cytokinesis 1 10q26.2 Rare single gene variant
N
2 2 Griswold AJ , et al. 2015 Edit
GEN539 DOCK10 Dedicator of cytokinesis 10 2q36.2 Rare single gene variant
N
Yes 2 1 Nava C , et al. 2013 Edit
GEN603 DOCK4 Dedicator of cytokinesis 4 7q31.1 Genetic association/multigenic CNV
N
9 8 Maestrini E , et al. 2009 Edit
GEN853 DOCK8 dedicator of cytokinesis 8 9p24.3 Rare single gene variant
N
14 6 De Rubeis S , et al. 2014 Edit
GEN557 DOLK Dolichol kinase 9q34.11 Syndromic
N
Yes 1 1 Helander A , et al. 2013 Edit
GEN072 DPP10 Dipeptidyl-peptidase 10 2q14.1 Rare Single Gene variant
N
13 11 Marshall CR , et al. 2008 Edit
GEN750 DPP4 Dipeptidyl-peptidase 4 2q24.2 Rare single gene variant
N
Yes 6 6 Lim ET , et al. 2013 Edit
GEN073 DPP6 dipeptidyl-peptidase 6 7q36.2 Genetic Association
N
22 23 Marshall CR , et al. 2008 Edit
GEN074 DPYD dihydropyrimidine dehydrogenase 1p21.3 Rare Single Gene variant
N
20 9 Marshall CR , et al. 2008 Edit
GEN998 DPYSL2 dihydropyrimidinase like 2 8p21.2 Genetic association
N
2 11 De Rubeis S , et al. 2014 Edit
GEN991 DPYSL3 dihydropyrimidinase like 3 5q32 Rare single gene variant
N
2 2 Iossifov I , et al. 2014 Edit
GEN576 DRD1 Dopamine receptor D1 5q35.2 Genetic association
N
4 4 Hettinger JA , et al. 2008 Edit
GEN358 DRD2 Dopamine receptor D2 11q23.2 Rare single gene variant
N
8 6 Hettinger JA , et al. 2012 Edit
GEN075 DRD3 dopamine receptor D3 3q13.31 Genetic Association
N
4 8 de Krom M , et al. 2008 Edit
GEN645 DSCAM Down syndrome cell adhesion molecule 21q22.2 Rare single gene variant
N
16 7 Iossifov I , et al. 2014 Edit
GEN581 DST Dystonin 6p12.1 Rare single gene variant
N
9 4 Kenny EM , et al. 2013 Edit
GEN836 DUSP15 dual specificity phosphatase 15 20q11.21 Rare single gene variant
N
6 3 Tian Y , et al. 2016 Edit
GEN323 DUSP22 dual specificity phosphatase 22 6p25.3 Rare Single Gene variant
N
1 1 Leblond CS , et al. 2012 Edit
GEN796 DVL1 Dishevelled segment polarity protein 1 1p36.33 Functional
N
0 3 Lijam N , et al. 1997 Edit
GEN797 DVL3 Dishevelled segment polarity protein 3 3q27.1 Rare single gene variant
N
1 3 Dong S , et al. 2014 Edit
GEN516 DYDC1 DPY30 domain containing 1 10q23.1 Multigenic CNV
N
7 1 Girirajan S , et al. 2013 Edit
GEN517 DYDC2 DPY30 domain containing 2 10q23.1 Multigenic CNV
N
7 1 Girirajan S , et al. 2013 Edit
GEN888 DYNC1H1 dynein cytoplasmic 1 heavy chain 1 14q32.31 Rare single gene variant
N
14 12 De Rubeis S , et al. 2014 Edit
GEN367 DYRK1A Dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A 21q22.13 Syndromic
N
103 33 O'Roak BJ , et al. 2012 Edit
GEN989 EBF3 early B-cell factor 3 10q26.3 Rare single gene variant
N
29 7 Tanaka AJ , et al. 2017 Edit
GEN608 EEF1A2 Eukaryotic translation elongation factor 1 alpha 2 20q13.33 Syndromic
N
12 7 Nakajima J , et al. 2014 Edit
GEN613 EFR3A EFR3 homolog A (S. cerevisiae) 8q24.22 Rare Single Gene variant
N
20 5 Gupta AR , et al. 2014 Edit
GEN076 EGR2 early growth response 2 (Krox-20 homolog, Drosophila) 10q21.3 Functional
N
0 4 Hu VW , et al. 2006 Edit
GEN344 EHMT1 Euchromatic histone-lysine N-methyltransferase 1 9q34.3 Syndromic
N
21 20 Talkowski ME , et al. 2012 Edit
GEN808 EIF3G eukaryotic translation initiation factor 3 subunit G 19p13.2 Rare single gene variant
N
2 3 Iossifov I , et al. 2012 Edit
GEN077 EIF4E eukaryotic translation initiation factor 4E 4q23 Rare single gene variant
N
8 12 Neves-Pereira M , et al. 2009 Edit
GEN479 EIF4EBP2 Eukaryotic translation initiation factor 4E binding protein 2 10q22.1 Functional
N
0 1 Gkogkas CG , et al. 2012 Edit
GEN826 ELAVL2 ELAV like neuron-specific RNA binding protein 2 9p21.3 Rare single gene variant
N
5 5 Iossifov I , et al. 2014 Edit
GEN753 ELAVL3 ELAV like neuron-specific RNA binding protein 3 19p13.2 Rare single gene variant
N
2 3 Iossifov I , et al. 2014 Edit
GEN733 ELP4 Elongator acetyltransferase complex subunit 4 11p13 Multigenic CNV
N
17 5 Addis L , et al. 2015 Edit
GEN282 EML1 echinoderm microtubule associated protein like 1 14q32.2 Rare Single Gene variant
N
6 2 Schaaf CP , et al. 2011 Edit
GEN669 EMSY EMSY, BRCA2 interacting transcriptional repressor 11q13.5 Rare single gene variant
N
10 3 Gupta S , et al. 2014 Edit
GEN078 EN2 engrailed homolog 2 7q36.3 Genetic Association
N
11 20 Gharani N , et al. 2004 Edit
GEN308 EP300 E1A binding protein p300 22q13.2 Syndromic
N
31 16 Vaags AK , et al. 2012 Edit
GEN353 EP400 E1A binding protein p400 12q24.33 Rare single gene variant
N
Yes 46 6 Chahrour MH , et al. 2012 Edit
GEN365 EPC2 Enhancer of polycomb homolog 2 (Drosophila) 2q23.1 Rare single gene variant
N
3 4 Jaillard S , et al. 2008 Edit
GEN079 EPHA6 EPH receptor A6 3q11.2 Rare Single Gene variant
N
4 6 Pinto D , et al. 2010 Edit
GEN410 EPHB2 EPH receptor B2 1p36.12 Rare single gene variant
N
7 3 Sanders SJ , et al. 2012 Edit
GEN080 EPHB6 EPH receptor B6 7q34 Rare Single Gene variant
N
1 5 O'Roak BJ , et al. 2011 Edit
GEN927 EPPK1 epiplakin 1 8q24.3 Rare single gene variant
N
8 3 Lim ET , et al. 2017 Edit
GEN574 EPS8 epidermal growth factor receptor pathway substrate 8 12p12.3 Functional
N
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
N
12 14 Pinto D , et al. 2010 Edit
GEN678 ERBIN erbb2 interacting protein 5q12.3 Rare single gene variant
N
3 5 Li J , et al. 2015 Edit
GEN404 ERG ERG, ETS transcription factor 21q22.2 Genetic association
N
1 1 Anney R , et al. 2012 Edit
GEN838 ERMN ermin 2q24.1 Rare single gene variant
N
8 1 Homs A , et al. 2016 Edit
GEN082 ESR1 estrogen receptor 1 6q25.1-q25.2 Syndromic
N
4 10 Chakrabarti B , et al. 2009 Edit
GEN083 ESR2 estrogen receptor 2 (ER beta) 14q23.2-q23.3 Syndromic
N
4 8 Chakrabarti B , et al. 2009 Edit
GEN084 ESRRB estrogen-related receptor beta 14q24.3 Genetic Association
N
3 7 Wang K , et al. 2009 Edit
GEN658 ETFB Electron-transfer-flavoprotein, beta polypeptide 19q13.41 Rare single gene variant
N
10 3 O'Roak BJ , et al. 2012 Edit
GEN679 EXOC3 Exocyst complex component 3 5p15.33 Rare single gene variant
N
2 1 Li J , et al. 2015 Edit
GEN680 EXOC5 Exocyst complex component 5 14q22.3 Rare single gene variant
N
2 2 Li J , et al. 2015 Edit
GEN681 EXOC6 Exocyst complex component 6 10q23.33 Rare single gene variant
N
2 1 Li J , et al. 2015 Edit
GEN525 EXOC6B exocyst complex component 6B 2p13.2 Rare single gene variant
N
4 3 Frhmesser A , et al. 2013 Edit
GEN361 EXT1 Exostosin 1 8q24.11 Rare single gene variant
N
5 6 Li H , et al. 2002 Edit
GEN085 F13A1 coagulation factor XIII, A1 polypeptide 6p25.1 Functional
N
3 6 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
N
1 1 Shimamoto C , et al. 2014 Edit
GEN086 FABP5 fatty acid binding protein 5 (psoriasis-associated) 8q21.13 Rare Single Gene variant, Genetic Association
N
3 6 Maekawa M , et al. 2010 Edit
GEN087 FABP7 fatty acid binding protein 7, brain 6q22.31 Genetic Association
N
10 7 Maekawa M , et al. 2010 Edit
GEN428 FAM135B Family with sequence similarity 135, member B 8q24.23 Genetic association
N
3 2 Connolly JJ , et al. 2012 Edit
GEN995 FAM19A2 family with sequence similarity 19 member A2, C-C motif chemokine like 12q14.1 Functional/multigenic CNV
N
4 1 Choi JH , et al. 2018 Edit
GEN992 FAM19A3 family with sequence similarity 19 member A3, C-C motif chemokine like 1p13.2 Multigenic CNV
N
1 2 Kim S , et al. 2017 Edit
GEN895 FAM47A family with sequence similarity 47 member A Xp21.1 Rare single gene variant
N
2 1 C Yuen RK , et al. 2017 Edit
GEN720 FAM92B Family with sequence similarity 92, member B 16q24.1 Rare single gene variant
N
3 3 Krumm N , et al. 2015 Edit
GEN589 FAN1 FANCD2/FANCI-associated nuclease 1 15q13.3 Rare single gene variant
N
4 1 Ionita-Laza I , et al. 2013 Edit
GEN338 FAT1 FAT atypical cadherin 1 4q35.2 Rare Single Gene variant
N
7 4 Neale BM , et al. 2012 Edit
GEN754 FBN1 Fibrillin 1 15q21.1 Rare single gene variant
N
8 9 Iossifov I , et al. 2012 Edit
GEN315 FBXO15 F-box protein 15 18q22.3 Rare Single Gene variant
N
3 3 Christian SL , et al. 2008 Edit
GEN088 FBXO33 F-box protein 33 14q21.1 Genetic Association
N
2 3 Wang K , et al. 2009 Edit
GEN089 FBXO40 F-box protein 40 3q13.33 Genetic Association
N
3 4 Glessner JT , et al. 2009 Edit
GEN946 FCRL6 Fc receptor like 6 1q23.2 Rare single gene variant
N
29 4 Sanders SJ , et al. 2012 Edit
GEN429 FER FERtyrosine kinase 5q21.3 Genetic association
N
2 1 Connolly JJ , et al. 2012 Edit
GEN090 FEZF2 FEZ family zinc finger 2 3p14.2 Genetic Association
N
4 8 Wang K , et al. 2009 Edit
GEN585 FGA Fibrinogen alpha chain 4q31.3 Genetic association
N
2 1 Ro M , et al. 2013 Edit
GEN287 FGD1 FYVE, RhoGEF and PH domain containing 1 Xp11.22 Rare Single Gene variant
N
4 3 Orrico A , et al. 2005 Edit
GEN299 FGFBP3 fibroblast growth factor binding protein 3 10q23.32 Rare Single Gene variant
N
1 1 Salyakina D , et al. 2011 Edit
GEN091 FHIT fragile histidine triad gene 3p14.2 Genetic Association
N
19 12 Sebat J , et al. 2007 Edit
GEN092 FLT1 fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular perme ability factor receptor) 13q12.3 Functional
N
1 4 Hu VW , et al. 2006 Edit
GEN093 FMR1 fragile X mental retardation 1 Xq27.3 Functional
N
30 40 Rogers SJ , et al. 2002 Edit
GEN413 FOLH1 folate hydrolase 1 11p11.12 Functional
N
0 2 Han L , et al. 2009 Edit
GEN094 FOXG1 Forkhead box G1 14q12 Syndromic
N
65 24 Kortm F , et al. 2011 Edit
GEN095 FOXP1 forkhead box P1 3p13 Rare Single Gene variant
N
101 36 O'Roak BJ , et al. 2011 Edit
GEN096 FOXP2 forkhead box P2 7q31.1 Rare single gene variant
N
78 38 Gong X , et al. 2004 Edit
GEN097 FRK fyn-related kinase 6q22.1 Genetic Association
N
3 3 Wang K , et al. 2009 Edit
GEN098 FRMPD4 FERM and PDZ domain containing 4 Xp22.2 Rare Single Gene variant
N
6 5 Piton A , et al. 2010 Edit
GEN1010 GABBR2 gamma-aminobutyric acid type B receptor subunit 2 9q22.33 Functional
N
9 10 EuroEPINOMICS-RES Consortium , et al. 2014 Edit
GEN624 GABRA1 Gamma-aminobutyric acid (GABA) A receptor, alpha 1 5q34 Functional
N
3 6 Fatemi SH , et al. 2008 Edit
GEN481 GABRA3 Gamma-aminobutyric acid (GABA) A receptor, alpha 3 Xq28 Rare Single Gene variant
N
8 2 Piton A , et al. 2012 Edit
GEN099 GABRA4 gamma-aminobutyric acid (GABA) A receptor, alpha 4 4p12 Genetic Association
N
9 6 Ma DQ , et al. 2005 Edit
GEN827 GABRA5 gamma-aminobutyric acid type A receptor alpha5 subunit 15q12 Genetic association
N
3 8 Fatemi SH , et al. 2010 Edit
GEN100 GABRB1 gamma-aminobutyric acid (GABA) A receptor, beta 1 4p12 Genetic Association
N
6 6 Ma DQ , et al. 2005 Edit
GEN101 GABRB3 gamma-aminobutyric acid (GABA) A receptor, beta 3 15q12 Genetic Association
N
Yes 77 36 Cook EH Jr , et al. 1998 Edit
GEN480 GABRQ Gamma-aminobutyric acid (GABA) A receptor, theta Xq28 Rare Single Gene variant
N
1 1 Piton A , et al. 2012 Edit
GEN606 GAD1 Glutamate decarboxylase 1 (brain, 67kDa) 2q31.1 Functional
N
1 5 Yip J , et al. 2007 Edit
GEN742 GADD45B Growth arrest and DNA-damage-inducible, beta 19p13.3 Functional
N
1 4 Garbett K , et al. 2008 Edit
GEN102 GALNT13 polypeptide N-acetylgalactosaminyltransferase 13 2q23.3-q24.1 Rare Single Gene variant
N
5 4 Bucan M , et al. 2009 Edit
GEN396 GALNT14 polypeptide N-acetylgalactosaminyltransferase 14 2p23.1 Genetic association
N
7 4 Anney R , et al. 2012 Edit
GEN383 GAN Gigaxonin 16q23.2 Rare single gene variant
N
1 1 Van der Aa N , et al. 2012 Edit
GEN414 GAP43 Growth associated protein 43 3q13.31 Functional
N
0 1 Zaccaria KJ , et al. 2010 Edit
GEN373 GAS2 Growth arrest-specific 2 11p14.3 Genetic association
N
2 1 Weiss LA , et al. 2009 Edit
GEN617 GATM Glycine amidinotransferase (L-arginine:glycine amidinotransferase) 15q21.1 Syndromic
N
2 2 Mercimek-Mahmutoglu S , et al. 2006 Edit
GEN682 GDA Guanine deaminase 9q21.13 Rare single gene variant
N
2 2 Li J , et al. 2015 Edit
unique_id gene_symbol gene_name chrmo_band genetic_cat
2 1 NA NA Edit
GEN997 GGNBP2 gametogenetin binding protein 2 17q12 Rare single gene variant
N
2 2 De Rubeis S , et al. 2014 Edit
GEN646 GIGYF1 GRB10 interacting GYF protein 1 7q22.1 Rare single gene variant
N
4 3 Iossifov I , et al. 2014 Edit
GEN721 GIGYF2 GRB10 interacting GYF protein 2 2q37.1 Rare single gene variant
N
8 7 De Rubeis S , et al. 2014 Edit
GEN781 GLIS1 GLIS family zinc finger 1 1p32.3 Genetic association
N
3 2 Kuo PH , et al. 2015 Edit
GEN103 GLO1 glyoxalase I 6p21.2 Genetic Association
N
6 9 Junaid MA , et al. 2004 Edit
GEN104 GLRA2 glycine receptor, alpha 2 Xp22.2 Rare Single Gene variant
N
7 13 Piton A , et al. 2010 Edit
GEN347 GNA14 Guanine nucleotide binding protein (G protein), alpha 14 9q21.2 Rare Single Gene variant
N
1 1 Talkowski ME , et al. 2012 Edit
GEN105 GNAS GNAS complex locus 20q13.32 Rare Single Gene variant, Genetic Association
N
12 8 Kim SJ , et al. 2000 Edit
GEN304 GNB1L guanine nucleotide binding protein (G protein), beta polypeptide 1-like 22q11.21 Rare Single Gene variant
N
7 2 Chen YZ , et al. 2011 Edit
GEN849 GPC4 glypican 4 Xq26.2 Rare single gene variant
N
Yes 2 2 Doan RN , et al. 2016 Edit
GEN106 GPC6 glypican 6 13q31.3-q32.1 Rare Single Gene variant
N
14 8 Pinto D , et al. 2010 Edit
GEN535 GPD2 glycerol-3-phosphate dehydrogenase 2 2q24.1 Rare single gene variant
N
Yes 5 4 Barge-Schaapveld DQ , et al. 2013 Edit
GEN505 GPHN Gephyrin 14q23.3 Rare single gene variant
N
13 8 Prasad A , et al. 2013 Edit
GEN107 GPR139 G protein-coupled receptor 139 16p12.3 Rare Single Gene variant
N
1 5 O'Roak BJ , et al. 2011 Edit
GEN489 GPR37 G protein-coupled receptor 37 7q31.33 Rare single gene variant
N
9 2 Fujita-Jimbo E , et al. 2012 Edit
GEN709 GPR85 G protein-coupled receptor 85 7q31.1 Genetic association, functional
N
4 4 Fujita-Jimbo E , et al. 2015 Edit
GEN108 GPX1 glutathione peroxidase 1 3p21.31 Genetic Association
N
1 5 Ming X , et al. 2009 Edit
GEN915 GRIA1 glutamate ionotropic receptor AMPA type subunit 1 5q33.2 Rare single gene variant
N
10 4 De Rubeis S , et al. 2014 Edit
GEN415 GRID1 Glutamate receptor, ionotropic, delta 1 10q23.1-q23.2 Genetic association
N
6 6 Glessner JT , et al. 2009 Edit
GEN283 GRID2 glutamate receptor, ionotropic, delta 2 4q22.1-q22.2 Rare Single Gene variant
N
23 9 Schaaf CP , et al. 2011 Edit
GEN683 GRID2IP Glutamate receptor, ionotropic, delta 2 (Grid2) interacting protein 7p22.1 Rare single gene variant
N
4 2 Li J , et al. 2015 Edit
GEN109 GRIK2 glutamate ionotropic receptor kainate type subunit 2 6q16.3 Genetic Association
N
19 17 Jamain S , et al. 2002 Edit
GEN684 GRIK3 Glutamate receptor, ionotropic, kainate 3 1p34.3 Rare single gene variant
N
2 2 Li J , et al. 2015 Edit
GEN775 GRIK4 Glutamate receptor, ionotropic, kainate 4 11q23.3 Rare single gene variant
N
2 3 Aller MI , et al. 2015 Edit
GEN722 GRIK5 Glutamate receptor, ionotropic, kainate 5 19q13.2 Rare single gene variant
N
4 6 De Rubeis S , et al. 2014 Edit
GEN626 GRIN1 Glutamate receptor, ionotropic, N-methyl D-aspartate 1 9q34.3 Functional
N
Yes 45 14 Gandal MJ , et al. 2012 Edit
GEN110 GRIN2A glutamate receptor, ionotropic, N-methyl D-aspartate 2A 16p13.2 Genetic Association
N
102 35 Barnby G , et al. 2005 Edit
GEN111 GRIN2B glutamate receptor, inotropic, N-methyl D-apartate 2B 12p13.1 Genetic Association
N
156 45 O'Roak BJ , et al. 2011 Edit
GEN112 GRIP1 glutamate receptor interacting protein 1 12q14.3 Rare Single Gene variant, Genetic Association
N
11 12 Mejias R , et al. 2011 Edit
GEN593 GRM1 Glutamate receptor, metabotropic 1 6q24.3 Rare single gene variant
N
3 6 Waltes R , et al. 2014 Edit
GEN559 GRM4 Glutamate receptor, metabotropic 4 6p21.31 Functional
N
0 1 Iscru E , et al. 2013 Edit
GEN355 GRM5 Glutamate receptor, metabotropic 5 11q14.2-q14.3 Rare single gene variant
N
21 5 Iossifov I , et al. 2012 Edit
GEN716 GRM7 Glutamate receptor, metabotropic 7 3p26.1 Genetic association
N
18 13 Yang Y and Pan C 2012 Edit
GEN113 GRM8 glutamate receptor, metabotropic 8 7q31.33 Genetic Association
N
12 7 Serajee FJ , et al. 2003 Edit
GEN114 GRPR Gastrin-releasing peptide receptor Xp22.2 Genetic Association
N
6 8 Ishikawa-Brush Y , et al. 1997 Edit
GEN416 GSK3B Glycogen synthase kinase 3 beta 3q13.33 Functional
N
1 4 Mines MA , et al. 2010 Edit
GEN387 GSN Gelsolin 9q33.2 Rare single gene variant
N
1 1 Awadalla P , et al. 2010 Edit
GEN115 GSTM1 glutathione S-transferase M1 1p13.3 Genetic Association
N
1 3 Buyske S , et al. 2006 Edit
GEN116 GTF2I general transcription factor IIi 7q11.23 Rare Single Gene variant
N
2 5 Malenfant P , et al. 2011 Edit
GEN400 GUCY1A2 guanylate cyclase 1 soluble subunit alpha 2 11q22.3 Genetic association
N
2 2 Anney R , et al. 2012 Edit
GEN993 H2AFZ H2A histone family member Z 4q23 Genetic association
N
2 3 Shen T , et al. 2018 Edit
GEN430 HCFC1 Host cell factor C1 (VP16-accessory protein) Xq28 Syndromic
N
17 7 Huang L , et al. 2012 Edit
GEN611 HCN1 Hyperpolarization activated cyclic nucleotide-gated potassium channel 1 5p12 Rare single gene variant
N
12 6 Nava C , et al. 2014 Edit
GEN843 HDAC3 histone deacetylase 3 5q31.3 Rare single gene variant
N
2 5 Nott A , et al. 2016 Edit
GEN117 HDAC4 histone deacetylase 4 2q37.3 Genetic Association
N
11 12 Williams SR , et al. 2010 Edit
GEN482 HDAC6 Histone deacetylase 6 Xp11.23 Rare Single Gene variant
N
1 2 Piton A , et al. 2012 Edit
GEN881 HDC histidine decarboxylase 15q21.2 Functional
N
1 6 Castellan Baldan L , et al. 2014 Edit
GEN1004 HDLBP high density lipoprotein binding protein 2q37.3 Multigenic CNV
N
2 4 O'Roak BJ , et al. 2012 Edit
GEN900 HECTD4 HECT domain E3 ubiquitin protein ligase 4 12q24.13 Rare single gene variant
N
6 3 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
N
12 7 Krumm N , et al. 2015 Edit
GEN118 HEPACAM hepatic and glial cell adhesion molecule 11q24.2 Syndromic
N
28 9 Lpez-Hernndez T , et al. 2011 Edit
GEN431 HERC2 HECT and RLD domain containing E3 ubiquitin protein ligase 2 15q13.1 Rare single gene variant
N
Yes 6 6 Puffenberger EG , et al. 2012 Edit
GEN870 HIVEP3 human immunodeficiency virus type I enhancer binding protein 3 1p34.2 Rare single gene variant
N
4 4 Iossifov I , et al. 2014 Edit
GEN119 HLA-A major histocompatibility complex, class I, A 6p22.1 Genetic Association
N
6 8 Torres AR , et al. 2006 Edit
GEN795 HLA-B Major histocompatibility complex, class I, B 6p21.33 Genetic association
N
5 3 Al-Hakbany M , et al. 2014 Edit
GEN120 HLA-DRB1 major histocompatibility complex, class II, DR beta 1 6p21.32 Genetic association
N
4 6 Warren RP , et al. 1996 Edit
GEN973 HLA-G major histocompatibility complex, class I, G 6p22.1 Genetic association
N
2 3 Guerini FR , et al. 2014 Edit
GEN303 HMGN1 high mobility group nucleosome binding domain 1 21q22.2 Genetic Association
N
11 1 Abuhatzira L , et al. 2011 Edit
GEN121 HNRNPH2 heterogeneous nuclear ribonucleoprotein H2 Xq22.1 Rare Single Gene variant
N
8 5 Piton A , et al. 2010 Edit
GEN926 HNRNPU heterogeneous nuclear ribonucleoprotein U 1q44 Rare single gene variant
N
25 11 Lim ET , et al. 2017 Edit
GEN356 HOMER1 Homer homolog 1 (Drosophila) 5q14.1 Rare single gene variant
N
8 5 Kelleher RJ 3rd , et al. 2012 Edit
GEN122 HOXA1 homeobox A1 7p15.2 Genetic Association
N
13 15 Ingram JL , et al. 2000 Edit
GEN123 HOXB1 homeobox B1 17q21.32 Genetic Association
N
0 8 Ingram JL , et al. 2000 Edit
GEN124 HRAS v-Ha-ras Harvey rat sarcoma viral oncogene homolog 11p15.5 Rare Single Gene variant
N
17 11 Hrault J , et al. 1993 Edit
GEN125 HS3ST5 heparan sulfate (glucosamine) 3-O-sulfotransferase 5 6q21-q22.1 Genetic Association
N
4 7 Wang K , et al. 2009 Edit
GEN126 HSD11B1 hydroxysteroid (11-beta) dehydrogenase 1 1q32.2 Syndromic
N
1 8 Chakrabarti B , et al. 2009 Edit
GEN127 HTR1B 5-hydroxytryptamine (serotonin) receptor 1B 6q14.1 Genetic Association
N
2 6 Orabona GM , et al. 2008 Edit
GEN128 HTR2A 5-hydroxytryptamine (serotonin) receptor 2A 13q14.2 Genetic Association
N
11 9 Veenstra-VanderWeele J , et al. 2002 Edit
GEN129 HTR3A 5-hydroxytryptamine (serotonin) receptor 3A 11q23.2 Functional
N
5 7 Anderson BM , et al. 2009 Edit
GEN130 HTR3C 5-hydroxytryptamine (serotonin) receptor 3, family member C 3q27.1 Genetic Association
N
7 5 Rehnstrm K , et al. 2008 Edit
GEN131 HTR7 5-hydroxytryptamine (serotonin) receptor 7 (adenylate cyclase-coupled) 10q23.31 Genetic Association
N
6 5 Lassig JP , et al. 1999 Edit
GEN432 HUWE1 HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase Xp11.22 Syndromic
N
30 9 Nava C , et al. 2012 Edit
GEN514 HYDIN HYDIN, axonemal central pair apparatus protein 16q22.2 Multigenic CNV
N
5 3 Girirajan S , et al. 2013 Edit
GEN296 ICA1 islet cell autoantigen 1, 69kDa 7p21.3 Rare Single Gene variant
N
6 4 Salyakina D , et al. 2011 Edit
GEN840 IFNG interferon gamma 12q15 Functional
N
0 13 Singh VK 1996 Edit
GEN841 IFNGR1 interferon gamma receptor 1 6q23.3 Functional
N
0 1 Filiano AJ , et al. 2016 Edit
GEN685 IL16 Interleukin 16 15q25.1 Rare single gene variant
N
3 2 Li J , et al. 2015 Edit
GEN794 IL17A Interleukin 17A 6p12.2 Functional
N
0 1 Choi GB , et al. 2016 Edit
GEN974 IL17RA interleukin 17 receptor A 22q11.1 Rare single gene variant
N
1 3 Choi GB , et al. 2016 Edit
GEN132 IL1R2 interleukin 1 receptor, type II 2q11.2 Rare Single Gene variant
N
2 6 O'Roak BJ , et al. 2011 Edit
GEN133 IL1RAPL1 interleukin 1 receptor accessory protein-like 1 Xp21.3-p21.2 Rare single gene variant
N
21 20 Bhat SS , et al. 2007 Edit
GEN302 IL1RAPL2 interleukin 1 receptor accessory protein-like 2 Xq22.3 Genetic Association
N
4 2 Chung RH , et al. 2011 Edit
GEN804 IL6 interleukin 6 7p15.3 Functional
N
0 6 Smith SE , et al. 2007 Edit
GEN759 ILF2 Interleukin enhancer binding factor 2 1q21.3 Rare single gene variant
N
2 4 Sanders SJ , et al. 2015 Edit
GEN134 IMMP2L IMP2 inner mitochondrial membrane peptidase-like (S. cerevisiae) 7q31.1 Rare single gene variant
N
25 12 Petek E , et al. 2001 Edit
GEN135 INPP1 inositol polyphosphate-1-phosphatase 2q32.2 Genetic Association
N
3 4 Serajee FJ , et al. 2003 Edit
GEN755 INTS6 Integrator complex subunit 6 13q14.3 Rare single gene variant
N
2 4 Iossifov I , et al. 2014 Edit
GEN874 IQGAP3 IQ motif containing GTPase activating protein 3 1q22 Rare single gene variant
N
2 2 Stessman HA , et al. 2017 Edit
GEN542 IQSEC2 IQ motif and Sec7 domain 2 Xp11.22 Syndromic
N
31 18 Shoubridge C , et al. 2010 Edit
GEN763 IRF2BPL Interferon regulatory factor 2 binding protein-like 14q24.3 Rare single gene variant
N
2 3 Sanders SJ , et al. 2015 Edit
GEN136 ITGA4 integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor) 2q31.3 Genetic Association
N
9 5 Ramoz N , et al. 2008 Edit
GEN137 ITGB3 integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61) 17q21.32 Genetic association
N
8 14 Weiss LA , et al. 2006 Edit
GEN138 ITGB7 integrin, beta 7 12q13.13 Functional
N
1 4 Hu VW , et al. 2006 Edit
GEN880 ITPR1 inositol 1,4,5-trisphosphate receptor type 1 3p26.1 Rare single gene variant
N
9 8 De Rubeis S , et al. 2014 Edit
GEN790 JAKMIP1 Janus kinase and microtubule interacting protein 1 4p16.1 Functional
N
5 8 Berg JM , et al. 2015 Edit
GEN374 JARID2 jumonji and AT-rich interaction domain containing 2 6p22.3 Genetic association
N
8 11 Weiss LA , et al. 2009 Edit
GEN139 JMJD1C jumonji domain containing 1C 10q21.3 Rare single gene variant
N
10 7 Castermans D , et al. 2007 Edit
GEN530 KANK1 KN motif and ankyrin repeat domains 1 9p24.3 Rare single gene variant
N
13 7 Vanzo RJ , et al. 2013 Edit
GEN764 KAT2B K(lysine) acetyltransferase 2B 3p24.3 Rare single gene variant
N
6 5 Sanders SJ , et al. 2015 Edit
GEN747 KAT6A K(lysine) acetyltransferase 6A 8p11.21 Rare single gene variant
N
20 8 Iossifov I , et al. 2014 Edit
GEN904 KATNAL1 katanin catalytic subunit A1 like 1 13q12.3 Rare single gene variant
N
1 2 C Yuen RK , et al. 2017 Edit
GEN369 KATNAL2 Katanin p60 subunit A-like 2 18q21.1 Rare Single Gene variant
N
16 7 Sanders SJ , et al. 2012 Edit
GEN938 KCNB1 potassium voltage-gated channel subfamily B member 1 20q13.13 Rare single gene variant
N
34 4 de Kovel CGF , et al. 2017 Edit
GEN433 KCND2 potassium voltage-gated channel subfamily D member 2 7q31.31 Rare single gene variant
N
7 5 Connolly JJ , et al. 2012 Edit
GEN999 KCND3 potassium voltage-gated channel subfamily D member 3 1p13.2 Genetic association
N
2 8 Iossifov I , et al. 2014 Edit
GEN140 KCNJ10 potassium voltage-gated channel subfamily J member 10 1q23.2 Genetic Association
N
13 10 Sicca F , et al. 2011 Edit
GEN686 KCNJ12 Potassium inwardly-rectifying channel, subfamily J, member 12 17p11.2 Rare single gene variant
N
2 1 Li J , et al. 2015 Edit
GEN687 KCNJ15 Potassium inwardly-rectifying channel, subfamily J, member 15 21q22.13-q22.2 Rare single gene variant
N
2 2 Li J , et al. 2015 Edit
GEN614 KCNJ2 Potassium inwardly-rectifying channel, subfamily J, member 2 17q24.3 Rare Single Gene variant
N
2 2 Ambrosini E , et al. 2014 Edit
GEN967 KCNK7 potassium two pore domain channel subfamily K member 7 11q13.1 Rare single gene variant
N
4 1 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
N
9 18 Laumonnier F , et al. 2006 Edit
GEN553 KCNQ2 potassium voltage-gated channel subfamily Q member 2 20q13.33 Genetic association
N
50 19 Jiang YH , et al. 2013 Edit
GEN536 KCNQ3 potassium voltage-gated channel subfamily Q member 3 8q24.22 Genetic association
N
11 7 Gilling M , et al. 2013 Edit
GEN434 KCNT1 potassium sodium-activated channel subfamily T member 1 9q34.3 Rare single gene variant
N
23 10 Heron SE , et al. 2012 Edit
GEN363 KCTD13 Potassium channel tetramerisation domain containing 13 16p11.2 Rare single gene variant
N
4 6 Golzio C , et al. 2012 Edit
GEN819 KDM4B lysine demethylase 4B 19p13.3 Rare single gene variant
N
10 3 De Rubeis S , et al. 2014 Edit
GEN647 KDM5B Lysine (K)-specific demethylase 5B 1q32.1 Rare single gene variant
N
35 10 Iossifov I , et al. 2014 Edit
GEN435 KDM5C lysine demethylase 5C Xp11.22 Syndromic
N
32 21 Adegbola A , et al. 2008 Edit
GEN896 KDM6A lysine demethylase 6A Xp11.3 Syndromic
N
7 6 C Yuen RK , et al. 2017 Edit
GEN648 KDM6B Lysine (K)-specific demethylase 6B 17p13.1 Rare single gene variant
N
27 8 Iossifov I , et al. 2012 Edit
GEN294 KHDRBS2 KH domain containing, RNA binding, signal transduction associated 2 6q11.1 Rare Single Gene variant
N
4 2 Salyakina D , et al. 2011 Edit
GEN834 KHDRBS3 KH RNA binding domain containing, signal transduction associated 3 8q24.23 Functional
N
0 2 Traunmller L , et al. 2014 Edit
GEN142 KIAA1586 KIAA1586 6p12.1 Rare Single Gene variant
N
14 3 Bucan M , et al. 2009 Edit
GEN688 KIF13B Kinesin family member 13B 8p12 Rare single gene variant
N
5 3 Li J , et al. 2015 Edit
GEN1018 KIF21B kinesin family member 21B 1q32.1 Functional
N
0 3 Gromova KV , et al. 2018 Edit
GEN389 KIF5C Kinesin family member 5C 2q23.1-q23.2 Rare single gene variant
N
12 7 Awadalla P , et al. 2010 Edit
GEN789 KIRREL3 Kin of IRRE like 3 (Drosophila) 11q24.2 Rare single gene variant
N
25 13 Talkowski ME , et al. 2012 Edit
GEN522 KIT KIT proto-oncogene receptor tyrosine kinase 4q12 Syndromic
N
1 1 Kilsby AJ , et al. 2013 Edit
GEN388 KLC2 Kinesin light chain 2 11q13.2 Rare single gene variant
N
2 2 Awadalla P , et al. 2010 Edit
GEN920 KLF16 Kruppel like factor 16 19p13.3 Rare single gene variant
N
2 1 Lim ET , et al. 2017 Edit
GEN571 KMO kynurenine 3-monooxygenase 1q43 Functional
N
0 1 McFarlane HG , et al. 2007 Edit
GEN700 KMT2A Lysine (K)-specific methyltransferase 2A 11q23.3 Syndromic
N
68 16 De Rubeis S , et al. 2014 Edit
GEN659 KMT2C Lysine (K)-specific methyltransferase 2C 7q36.1 Rare single gene variant
N
45 14 O'Roak BJ , et al. 2012 Edit
GEN636 KMT2E Lysine (K)-specific methyltransferase 2E 7q22.3 Rare single gene variant
N
3 3 Dong S , et al. 2014 Edit
GEN336 KMT5B lysine methyltransferase 5B 11q13.2 Rare Single Gene variant
N
18 9 Sanders SJ , et al. 2012 Edit
GEN586 KPTN kaptin, actin binding protein 19q13.32 Syndromic
N
6 3 Baple EL , et al. 2013 Edit
GEN779 KRR1 KRR1, small subunit (SSU) processome component, homolog (yeast) 12q21.2 Genetic association
N
2 1 Kuo PH , et al. 2015 Edit
GEN956 KRT26 keratin 26 17q21.2 Rare single gene variant
N
36 2 Krumm N , et al. 2015 Edit
GEN403 LAMA1 Laminin, alpha 1 18p11.31 Genetic association
N
5 5 Anney R , et al. 2012 Edit
GEN143 LAMB1 laminin, beta 1 7q31.1 Genetic Association
N
6 5 Hutcheson HB , et al. 2004 Edit
GEN144 LAMC3 laminin, gamma 3 9q34.12 Rare Single Gene variant
N
19 8 O'Roak BJ , et al. 2011 Edit
GEN979 LAT linker for activation of T-cells 16p11.2 Functional
N
0 2 Loviglio MN , et al. 2017 Edit
GEN1013 LEO1 LEO1 homolog, Paf1/RNA polymerase II complex component 15q21.2 Rare single gene variant
N
5 3 De Rubeis S , et al. 2014 Edit
GEN496 LEP Leptin 7q32.1 Rare single gene variant
N
2 1 Prasad A , et al. 2013 Edit
GEN968 LILRB2 leukocyte immunoglobulin like receptor B2 19q13.42 Rare single gene variant
N
7 2 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
N
2 1 Mizuno M , et al. 2014 Edit
GEN272 LMX1B LIM homeobox transcription factor 1, beta 9q33.3 Genetic association/Functional
N
2 1 Thanseem I , et al. 2011 Edit
GEN689 LPL Lipoprotein lipase 8p21.3 Rare single gene variant
N
1 1 Li J , et al. 2015 Edit
GEN802 LRBA LPS-responsive vesicle trafficking, beach and anchor containing 4q31.3 Rare single gene variant
N
14 5 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
N
16 4 Morimura N , et al. 2017 Edit
GEN145 LRFN5 leucine rich repeat and fibronectin type III domain containing 5 14q21.1 Genetic Association
N
6 6 Wang K , et al. 2009 Edit
GEN362 LRP2 LDL receptor related protein 2 2q31.1 Rare single gene variant
N
46 11 Ionita-Laza I , et al. 2012 Edit
GEN690 LRP2BP LRP2 binding protein 4q35.1 Rare single gene variant
N
1 1 Li J , et al. 2015 Edit
GEN436 LRPPRC Leucine-rich pentatricopeptide repeat containing 2p21 Functional
N
2 3 Anitha A , et al. 2012 Edit
GEN146 LRRC1 leucine rich repeat containing 1 6p12.1 Genetic Association
N
4 5 Wang K , et al. 2009 Edit
GEN417 LRRC7 Leucine rich repeat containing 7 1p31.1 Functional
N
2 3 Carlisle HJ , et al. 2011 Edit
GEN730 LZTR1 Leucine-zipper-like transcription regulator 1 22q11.21 Rare single gene variant
N
8 3 Krumm N , et al. 2015 Edit
GEN147 LZTS2 leucine zipper, putative tumor suppressor 2 10q24.31 Genetic Association
N
2 4 Wang K , et al. 2009 Edit
GEN148 MACROD2 MACRO domain containing 2 20p12.1 Genetic Association
N
14 17 Anney R , et al. 2010 Edit
GEN405 MAGED1 MAGE family member D1 Xp11.22 Functional
N
0 1 Dombret C , et al. 2012 Edit
GEN578 MAGEL2 MAGE-like 2 15q11.2 Syndromic
N
32 12 Schaaf CP , et al. 2013 Edit
GEN668 MAL mal, T-cell differentiation protein 2q11.1 Functional
N
0 2 Gupta S , et al. 2014 Edit
GEN149 MAOA monoamine oxidase A Xp11.3 Genetic Association
N
13 14 Cohen IL , et al. 2003 Edit
GEN524 MAOB Monoamine oxidase B Xp11.3 Multigenic CNV
N
6 4 Saito M , et al. 2013 Edit
GEN150 MAP2 microtubule-associated protein 2 2q34 Rare Single Gene variant
N
1 5 Mukaetova-Ladinska EB , et al. 2004 Edit
GEN418 MAPK1 Mitogen-activated protein kinase 1 22q11.22 Functional
N
1 2 Satoh Y , et al. 2011 Edit
GEN691 MAPK12 Mitogen-activated protein kinase 12 22q13.33 Rare single gene variant
N
1 1 Li J , et al. 2015 Edit
GEN284 MAPK3 mitogen-activated protein kinase 3 16p11.2 Rare Single Gene variant
N
4 4 Schaaf CP , et al. 2011 Edit
GEN419 MAPK8IP2 Mitogen-activated protein kinase 8 interacting protein 2 22q13.33 Functional
N
0 1 Giza J , et al. 2010 Edit
GEN151 MARK1 microtubule affinity regulating kinase 1 1q41 Genetic association/Functional
N
12 10 Maussion G , et al. 2008 Edit
GEN152 MBD1 methyl-CpG binding domain protein 1 18q21.1 Rare Single Gene variant
N
12 7 Li H , et al. 2005 Edit
GEN153 MBD3 methyl-CpG binding domain protein 3 19p13.3 Rare Single Gene variant, Genetic Association
N
18 4 Cukier HN , et al. 2009 Edit
GEN154 MBD4 methyl-CpG binding domain protein 4 3q21.3 Rare Single Gene variant, Genetic Association
N
11 6 Cukier HN , et al. 2009 Edit
GEN345 MBD5 Methyl-CpG binding domain protein 5 2q23.1 Rare single gene variant
N
109 29 Wagenstaller J , et al. 2007 Edit
GEN437 MBD6 Methyl-CpG binding domain protein 6 12q13.3 Rare single gene variant
N
11 1 Cukier HN , et al. 2012 Edit
GEN846 MBOAT7 membrane bound O-acyltransferase domain containing 7 19q13.42 Rare single gene variant
N
Yes 7 2 Johansen A , et al. 2016 Edit
GEN551 MC4R Melanocortin 4 receptor 18q21.32 Functional
N
0 2 Xu P , et al. 2013 Edit
GEN325 MCC mutated in colorectal cancers 5q22.2 Rare single gene variant
N
7 4 Barber JC , et al. 1994 Edit
GEN811 MCM4 minichromosome maintenance complex component 4 8q11.21 Rare single gene variant
N
2 2 Fromer M , et al. 2014 Edit
GEN1000 MCM6 minichromosome maintenance complex component 6 2q21.3 Rare single gene variant
N
2 2 Iossifov I , et al. 2014 Edit
GEN155 MCPH1 microcephalin 1 8p23.1 Rare Single Gene variant
N
14 15 Ozgen HM , et al. 2009 Edit
GEN156 MDGA2 MAM domain containing glycosylphosphatidylinositol anchor 2 14q21.3 Genetic Association
N
18 7 Bucan M , et al. 2009 Edit
GEN157 MECP2 Methyl CpG binding protein 2 Xq28 Syndromic
N
134 68 Amir RE , et al. 1999 Edit
GEN158 MED12 mediator complex subunit 12 Xq13.1 Genetic Association
N
19 20 Beyer KS , et al. 2002 Edit
GEN884 MED13 mediator complex subunit 13 17q23.2 Rare single gene variant
N
17 4 Iossifov I , et al. 2014 Edit
GEN649 MED13L Mediator complex subunit 13-like 12q24.21 Rare single gene variant
N
74 22 Iossifov I , et al. 2012 Edit
GEN159 MEF2C myocyte enhancer factor 2C 5q14.3 Rare Single Gene variant
N
Yes 47 28 Novara F , et al. 2010 Edit
GEN906 MEGF10 multiple EGF like domains 10 5q23.2 Genetic association
N
6 5 Wu Z , et al. 2017 Edit
GEN930 MEGF11 multiple EGF like domains 11 15q22.31 Rare single gene variant
N
3 4 Sanders SJ , et al. 2012 Edit
GEN160 MET met proto-oncogene (hepatocyte growth factor receptor) 7q31.2 Genetic Association
N
24 36 Campbell DB , et al. 2006 Edit
GEN765 MFRP Membrane frizzled-related protein 11q23.3 Rare single gene variant
N
7 5 Sanders SJ , et al. 2015 Edit
GEN660 MIB1 Mindbomb E3 ubiquitin protein ligase 1 18q11.2 Rare single gene variant
N
22 5 De Rubeis S , et al. 2014 Edit
GEN161 MKL2 MKL/myocardin-like 2 16p13.12 Genetic Association
N
5 10 Holt R , et al. 2010 Edit
GEN780 MNT MAX network transcriptional repressor 17p13.3 Genetic association
N
2 1 Kuo PH , et al. 2015 Edit
GEN746 MOCOS Molybdenum cofactor sulfurase 18q12.2 Rare single gene variant
N
1 2 Fron F , et al. 2015 Edit
GEN692 MPP6 membrane palmitoylated protein 6 7p15.3 Rare single gene variant
N
4 3 Li J , et al. 2015 Edit
GEN921 MSANTD2 Myb/SANT DNA binding domain containing 2 11q24.2 Rare single gene variant
N
2 1 Lim ET , et al. 2017 Edit
GEN379 MSN Moesin Xq12 Functional
N
0 1 Kerin T , et al. 2012 Edit
GEN582 MSNP1AS Moesinpseudogene 1, antisense Genetic Association
N
5 11 Kerin T , et al. 2012 Edit
GEN335 MSR1 macrophage scavenger receptor 1 8p22 Rare Single Gene variant
N
4 2 O'Roak BJ , et al. 2012 Edit
GEN162 MTF1 metal-regulatory transcription factor 1 1p34.3 Genetic Association
N
2 4 Serajee FJ , et al. 2004 Edit
GEN163 MTHFR methylenetetrahydrofolate reductase (NAD(P)H) 1p36.22 Genetic Association
N
12 15 James SJ , et al. 2006 Edit
GEN785 MTOR Mechanistic target of rapamycin (serine/threonine kinase) 1p36.22 Rare single gene variant
N
27 14 Mroske C , et al. 2015 Edit
GEN529 MTR 5-methyltetrahydrofolate-homocysteine methyltransferase 1q43 Functional
N
4 5 Muratore CR , et al. 2013 Edit
GEN438 MTX2 Metaxin 2 2q31.1 Functional
N
0 1 Anitha A , et al. 2012 Edit
GEN934 MUC12 mucin 12, cell surface associated 7q22.1 Rare single gene variant
N
8 2 De Rubeis S , et al. 2014 Edit
GEN943 MUC4 mucin 4, cell surface associated 3q29 Rare single gene variant
N
90 5 Iossifov I , et al. 2012 Edit
GEN502 MYH4 Myosin, heavy chain 4, skeletal muscle 17p13.1 Rare single gene variant
N
4 3 Prasad A , et al. 2013 Edit
GEN164 MYO16 myosin XVI 13q33.3 Genetic Association
N
15 7 Wang K , et al. 2009 Edit
GEN165 MYO1A myosin IA 12q13.3 Rare Single Gene variant
N
12 7 O'Roak BJ , et al. 2011 Edit
GEN1001 MYO1E myosin IE 15q22.2 Rare single gene variant
N
3 2 Iossifov I , et al. 2014 Edit
GEN892 MYO5A myosin VA 15q21.2 Rare single gene variant
N
5 4 De Rubeis S , et al. 2014 Edit
GEN932 MYO5C myosin VC 15q21.2 Rare single gene variant
N
3 2 Iossifov I , et al. 2014 Edit
GEN661 MYO9B Myosin IXB 19p13.11 Rare single gene variant
N
27 2 De Rubeis S , et al. 2014 Edit
GEN693 MYOZ1 Myozenin 1 10q22.2 Rare single gene variant
N
1 1 Li J , et al. 2015 Edit
GEN533 MYT1L Myelin transcription factor 1-like 2p25.3 Multigenic CNV
N
35 15 Meyer KJ , et al. 2011 Edit
GEN662 NAA15 N(alpha)-acetyltransferase 15, NatA auxiliary subunit 4q31.1 Rare single gene variant
N
48 9 De Rubeis S , et al. 2014 Edit
GEN777 NAALADL2 N-acetylated alpha-linked acidic dipeptidase-like 2 3q26.31 Genetic association
N
2 1 Kuo PH , et al. 2015 Edit
GEN868 NACC1 nucleus accumbens associated 1 19p13.13 Rare single gene variant
N
9 3 Schoch K , et al. 2017 Edit
GEN814 NAV2 neuron navigator 2 11p15.1 Rare single gene variant
N
14 8 Sanders SJ , et al. 2012 Edit
GEN166 NBEA neurobeachin 13q13.3 Rare single gene variant
N
4 8 Castermans D , et al. 2003 Edit
GEN650 NCKAP1 NCK-associated protein 1 2q32.1 Rare single gene variant
N
6 7 Iossifov I , et al. 2012 Edit
GEN492 NCKAP5 NCK-associated protein 5 2q21.2 Rare single gene variant
N
3 1 Prasad A , et al. 2013 Edit
GEN350 NCKAP5L NCK-associated protein 5-like 12q13.12 Rare single gene variant
N
Yes 6 2 Chahrour MH , et al. 2012 Edit
GEN855 NCOR1 nuclear receptor corepressor 1 17p12-p11.2 Rare single gene variant
N
3 3 Iossifov I , et al. 2012 Edit
GEN168 NDUFA5 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5, 13kDa 7q31.32 Genetic Association
N
2 3 Marui T , et al. 2010 Edit
GEN439 NEFL Neurofilament, light polypeptide 8p21.2 Genetic association/functional
N
2 2 Anitha A , et al. 2012 Edit
GEN440 NELL1 neural EGFL like 1 11p15.1 Genetic association
N
3 2 Connolly JJ , et al. 2012 Edit
GEN782 NEO1 Neogenin 1 15q24.1 Multigenic CNV, rare single gene variant
N
Yes 4 1 Siu WK , et al. 2015 Edit
GEN538 NEXMIF neurite extension and migration factor Xq13.3 Rare single gene variant
N
35 18 Cantagrel V , et al. 2004 Edit
GEN169 NF1 neurofibromin 1 (neurofibromatosis, von Recklinghausen disease, Watson disease) 17q11.2 Rare Single Gene variant, Genetic Association
N
12 23 Marui T , et al. 2004 Edit
GEN290 NFIA nuclear factor I/A 1p31.3 Rare Single Gene variant
N
11 8 Mikhail FM , et al. 2011 Edit
GEN805 NFIX nuclear factor I/X (CCAAT-binding transcription factor) 19p13.13 Syndromic
N
13 6 Malan V , et al. 2010 Edit
GEN766 NINL Ninein-like 20p11.21 Rare single gene variant
N
2 3 Sanders SJ , et al. 2015 Edit
GEN318 NIPA1 non imprinted in Prader-Willi/Angelman syndrome 1 15q11.2 Rare single gene variant
N
4 5 Leblond CS , et al. 2012 Edit
GEN319 NIPA2 non imprinted in Prader-Willi/Angelman syndrome 2 15q11.2 Multigenic CNV
N
2 2 Leblond CS , et al. 2012 Edit
GEN278 NIPBL Nipped-B homolog (Drosophila) 5p13.2 Syndromic
N
15 9 Krantz ID , et al. 2004 Edit
GEN170 NLGN1 neuroligin 1 3q26.31 Genetic Association
N
13 17 Glessner JT , et al. 2009 Edit
GEN627 NLGN2 Neuroligin 2 17p13.1 Rare single gene variant
N
5 8 Whr M , et al. 2012 Edit
GEN171 NLGN3 neuroligin 3 Xq13.1 Rare Single Gene variant
N
32 32 Jamain S , et al. 2003 Edit
GEN172 NLGN4X neuroligin 4, X-linked Xp22.32-p22.31 Rare Single Gene variant
N
41 29 Jamain S , et al. 2003 Edit
GEN173 NLGN4Y neuroligin 4, Y-linked Yq11.221 Genetic Association
N
0 3 Ylisaukko-oja T , et al. 2005 Edit
GEN694 NOS1 Nitric oxide synthase 1 (neuronal) 12q24.22 Rare single gene variant
N
2 2 Li J , et al. 2015 Edit
GEN174 NOS1AP nitric oxide synthase 1 (neuronal) adaptor protein 1q23.3 Rare single Gene variant
N
2 6 Delorme R , et al. 2010 Edit
GEN175 NOS2 nitric oxide synthase 2 17q11.2 Genetic Association
N
5 7 Kim HW , et al. 2008 Edit
GEN1019 NOTCH2NL notch 2 N-terminal like 1q21.1 Functional/Multigenic CNV
N
0 1 Fiddes IT , et al. 2018 Edit
GEN176 NPAS2 neuronal PAS domain protein 2 2q11.2 Genetic Association
N
3 4 Nicholas B , et al. 2007 Edit
GEN898 NR1D1 nuclear receptor subfamily 1 group D member 1 17q21.1 Rare single gene variant
N
5 3 Yang Z , et al. 2015 Edit
GEN1009 NR1H2 nuclear receptor subfamily 1 group H member 2 19q13.33 Functional
N
0 1 Cai Y , et al. 2018 Edit
GEN817 NR2F1 nuclear receptor subfamily 2 group F member 1 5q15 Rare single gene variant
N
33 10 Bosch DG , et al. 2014 Edit
GEN663 NR3C2 Nuclear receptor subfamily 3, group C, member 2 4q31.23 Rare single gene variant
N
9 3 De Rubeis S , et al. 2014 Edit
GEN1016 NR4A2 nuclear receptor subfamily 4 group A member 2 2q24.1 Rare single gene variant
N
7 5 Lvy J , et al. 2018 Edit
GEN177 NRCAM neuronal cell adhesion molecule 7q31.1 Genetic Association
N
8 5 Marui T , et al. 2008 Edit
GEN628 NRG1 Neuregulin 1 8p12 Functional
N
0 4 Ehrlichman RS , et al. 2009 Edit
GEN178 NRP2 neuropilin 2 2q33.3 Genetic Association
N
4 8 Wu S , et al. 2007 Edit
GEN179 NRXN1 neurexin 1 2p16.3 Rare Single Gene variant
N
Yes 249 72 Feng J , et al. 2006 Edit
GEN271 NRXN2 neurexin 2 11q13.1 Rare Single Gene variant
N
18 9 Gauthier J , et al. 2011 Edit
GEN305 NRXN3 neurexin 3 14q24.3-q31.1 Rare Single Gene variant
N
23 16 Vaags AK , et al. 2012 Edit
GEN279 NSD1 nuclear receptor binding SET domain protein 1 5q35.3 Syndromic
N
26 13 Kurotaki N , et al. 2002 Edit
GEN167 NSMCE3 NSE3 homolog, SMC5-SMC6 complex component 15q13.1 Functional
N
1 3 Chibuk TK , et al. 2002 Edit
GEN180 NTNG1 netrin G1 1p13.3 Syndromic
N
5 8 Borg I , et al. 2005 Edit
GEN181 NTRK1 neurotrophic tyrosine kinase, receptor, type 1 1q23.1 Rare Single Gene variant
N
14 8 Chakrabarti B , et al. 2009 Edit
GEN986 NTRK2 neurotrophic receptor tyrosine kinase 2 9q21.33 Syndromic
N
12 3 Hamdan FF , et al. 2017 Edit
GEN182 NTRK3 neurotrophic tyrosine kinase, receptor, type 3 15q25.3 Rare Single Gene variant, Genetic Association
N
9 13 Chakrabarti B , et al. 2009 Edit
GEN756 NUAK1 NUAK family, SNF1-like kinase, 1 12q23.3 Rare single gene variant
N
4 5 Iossifov I , et al. 2012 Edit
GEN812 NUP133 nucleoporin 133kDa 1q42.13 Rare single gene variant
N
3 4 Iossifov I , et al. 2012 Edit
GEN483 NXF5 Nuclear RNA export factor 5 Xq22.1 Rare Single Gene variant
N
2 4 Piton A , et al. 2012 Edit
GEN297 NXPH1 neurexophilin 1 7p21.3 Rare Single Gene variant
N
8 5 Salyakina D , et al. 2011 Edit
GEN818 OCRL oculocerebrorenal syndrome of Lowe Xq26.1 Syndromic
N
2 5 Kenworthy L , et al. 1993 Edit
GEN183 ODF3L2 outer dense fiber of sperm tails 3-like 2 19p13.3 Rare Single Gene variant
N
11 1 Bucan M , et al. 2009 Edit
GEN961 OFD1 OFD1, centriole and centriolar satellite protein Xp22.2 Rare single gene variant
N
2 2 Krumm N , et al. 2015 Edit
GEN547 OGT O-linked N-acetylglucosamine (GlcNAc) transferase Xq13.1 Functional
N
3 4 Howerton CL , et al. 2013 Edit
GEN184 OPHN1 oligophrenin 1 Xq12 Rare Single Gene variant
N
12 12 Piton A , et al. 2010 Edit
GEN185 OPRM1 opioid receptor, mu 1 6q25.2 Functional
N
0 4 Moles A , et al. 2004 Edit
GEN186 OR1C1 olfactory receptor, family 1, subfamily C, member 1 1q44 Rare Single Gene variant
N
4 2 Bucan M , et al. 2009 Edit
GEN776 OR2M4 Olfactory receptor, family 2, subfamily M, member 4 1q44 Genetic association
N
4 1 Kuo PH , et al. 2015 Edit
GEN800 OR2T10 olfactory receptor family 2 subfamily T member 10 1q44 Rare single gene variant
N
2 3 Iossifov I , et al. 2014 Edit
GEN767 OR52M1 Olfactory receptor, family 52, subfamily M, member 1 11p15.4 Rare single gene variant
N
1 2 Sanders SJ , et al. 2015 Edit
GEN1005 OTUD7A OTU deubiquitinase 7A 15q13.3 Multigenic CNV
N
1 3 Uddin M , et al. 2018 Edit
GEN376 OTX1 Orthodenticle homeobox 1 2p15 Genetic association
N
4 3 Liu X , et al. 2011 Edit
GEN828 OXT oxytocin/neurophysin I prepropeptide 20p13 Genetic association
N
8 4 Ebstein RP , et al. 2009 Edit
GEN187 OXTR oxytocin receptor 3p25.3 Genetic Association
N
51 42 Wu S , et al. 2005 Edit
GEN629 P2RX4 Purinergic receptor P2X, ligand-gated ion channel, 4 12q24.31 Functional
N
0 1 Wyatt LR , et al. 2013 Edit
GEN768 P2RX5 Purinergic receptor P2X, ligand gated ion channel, 5 17p13.2 Rare single gene variant
N
1 2 Sanders SJ , et al. 2015 Edit
GEN723 P4HA2 Prolyl 4-hydroxylase, alpha polypeptide II 5q31.1 Rare single gene variant
N
13 4 De Rubeis S , et al. 2014 Edit
GEN803 PACS1 phosphofurin acidic cluster sorting protein 1 11q13.1-q13.2 Syndromic
N
33 6 Schuurs-Hoeijmakers JH , et al. 2016 Edit
GEN1012 PACS2 phosphofurin acidic cluster sorting protein 2 14q32.33 Rare single gene variant
N
15 2 Olson HE , et al. 2018 Edit
GEN630 PAFAH1B1 Platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa) 17p13.3 Functional
N
0 2 Sudarov A , et al. 2013 Edit
GEN527 PAH Phenylalanine hydroxylase 12q23.2 Rare single gene variant
N
Yes 3 2 Yu TW , et al. 2013 Edit
GEN391 PARD3B Par-3 partitioning defective 3 homolog B (C. elegans) 2q33.3 Genetic association
N
9 6 Anney R , et al. 2012 Edit
GEN580 PATJ PATJ, crumbs cell polarity complex component 1p31.3 Rare single gene variant
N
4 2 Kenny EM , et al. 2013 Edit
GEN667 PAX5 Paired box 5 9p13.2 Rare Single Gene variant
N
3 4 Iossifov I , et al. 2012 Edit
GEN743 PAX6 Paired box 6 11p13 Multigenic CNV
N
3 6 Umeda T , et al. 2011 Edit
GEN857 PCCA propionyl-CoA carboxylase alpha subunit 13q32.3 Syndromic
N
4 9 Al-Owain M , et al. 2013 Edit
GEN858 PCCB propionyl-CoA carboxylase beta subunit 3q22.3 Syndromic
N
5 8 Witters P , et al. 2016 Edit
GEN189 PCDH10 protocadherin 10 4q28.3 Rare Single Gene variant
N
4 8 Morrow EM , et al. 2008 Edit
GEN894 PCDH11X protocadherin 11 X-linked Xq21.31 Rare single gene variant
N
2 2 Lim ET , et al. 2013 Edit
GEN399 PCDH15 protocadherin related 15 10q21.1 Genetic association
N
29 4 Anney R , et al. 2012 Edit
GEN190 PCDH19 protocadherin 19 Xq22.1 Syndromic
N
182 25 Piton A , et al. 2010 Edit
GEN324 PCDH8 protocadherin 8 13q14.3 Rare Single Gene variant
N
1 1 Leblond CS , et al. 2012 Edit
GEN191 PCDH9 protocadherin 9 13q21.32 Rare Single Gene variant
N
10 7 Marshall CR , et al. 2008 Edit
GEN441 PCDHA1 Protocadherin alpha 1 5q31.3 Rare single gene variant
N
6 3 Anitha A , et al. 2012 Edit
GEN450 PCDHA10 Protocadherin alpha 10 5q31.3 Rare single gene variant
N
6 3 Anitha A , et al. 2012 Edit
GEN451 PCDHA11 Protocadherin alpha 11 5q31.3 Rare single gene variant
N
7 4 Anitha A , et al. 2012 Edit
GEN452 PCDHA12 Protocadherin alpha 12 5q31.3 Rare single gene variant
N
6 3 Anitha A , et al. 2012 Edit
GEN453 PCDHA13 Protocadherin alpha 13 5q31.3 Rare single gene variant
N
6 4 Anitha A , et al. 2012 Edit
GEN442 PCDHA2 Protocadherin alpha 2 5q31.3 Rare single gene variant
N
8 4 Anitha A , et al. 2012 Edit
GEN443 PCDHA3 Protocadherin alpha 3 5q31.3 Rare single gene variant
N
6 3 Anitha A , et al. 2012 Edit
GEN444 PCDHA4 Protocadherin alpha 4 5q31.3 Rare single gene variant
N
7 4 Anitha A , et al. 2012 Edit
GEN445 PCDHA5 Protocadherin alpha 5 5q31.3 Rare single gene variant
N
8 5 Anitha A , et al. 2012 Edit
GEN446 PCDHA6 Protocadherin alpha 6 5q31.3 Rare single gene variant
N
6 3 Anitha A , et al. 2012 Edit
GEN447 PCDHA7 Protocadherin alpha 7 5q31.3 Rare single gene variant
N
6 3 Anitha A , et al. 2012 Edit
GEN448 PCDHA8 Protocadherin alpha 8 5q31.3 Rare single gene variant
N
7 4 Anitha A , et al. 2012 Edit
GEN449 PCDHA9 Protocadherin alpha 9 5q31.3 Rare single gene variant
N
7 4 Anitha A , et al. 2012 Edit
GEN454 PCDHAC1 Protocadherin alpha subfamily C, 1 5q31.3 Genetic association
N
3 2 Anitha A , et al. 2012 Edit
GEN455 PCDHAC2 Protocadherin alpha subfamily C, 2 5q31.3 Genetic association
N
2 3 Anitha A , et al. 2012 Edit
GEN342 PCDHGA11 protocadherin gamma subfamily A, 11 5q31.3 Rare Single Gene variant
N
1 1 Sato D , et al. 2012 Edit
GEN948 PDCD1 programmed cell death 1 2q37.3 Rare single gene variant
N
2 3 O'Roak BJ , et al. 2012 Edit
GEN309 PDE1C phosphodiesterase 1C, calmodulin-dependent 70kDa 7p14.3 Rare Single Gene variant
N
3 3 Vaags AK , et al. 2012 Edit
GEN311 PDE4A phosphodiesterase 4A, cAMP-specific 19p13.2 Functional
N
1 2 Braun NN , et al. 2007 Edit
GEN312 PDE4B phosphodiesterase 4B, cAMP-specific 1p31.3 Functional
N
2 5 Braun NN , et al. 2007 Edit
GEN192 PDZD4 PDZ domain containing 4 Xq28 Rare Single Gene variant
N
2 4 Piton A , et al. 2010 Edit
GEN276 PECR peroxisomal trans-2-enoyl-CoA reductase 2q35 Rare Single Gene variant
N
Yes 3 2 Najmabadi H , et al. 2011 Edit
GEN193 PER1 period homolog 1 (Drosophila) 17p13.1 Genetic Association
N
8 6 Nicholas B , et al. 2007 Edit
GEN899 PER2 period circadian clock 2 2q37.3 Rare single gene variant
N
5 2 Iossifov I , et al. 2014 Edit
GEN326 PEX7 peroxisomal biogenesis factor 7 6q23.3 Genetic Association
N
Yes 4 3 Ro M , et al. 2012 Edit
GEN859 PGLYRP2 peptidoglycan recognition protein 2 19p13.12 Rare single gene variant
N
2 3 Arentsen T , et al. 2016 Edit
GEN909 PHB prohibitin 17q21.33 Genetic association
N
1 1 Cantor RM , et al. 2017 Edit
GEN651 PHF2 PHD finger protein 2 9q22.31 Rare single gene variant
N
6 5 Iossifov I , et al. 2012 Edit
GEN885 PHF3 PHD finger protein 3 6q12 Rare single gene variant
N
6 2 Iossifov I , et al. 2014 Edit
GEN456 PHF8 PHD finger protein 8 Xp11.22 Syndromic
N
7 7 Nava C , et al. 2012 Edit
GEN856 PHIP pleckstrin homology domain interacting protein 6q14.1 Rare single gene variant
N
32 10 Iossifov I , et al. 2014 Edit
GEN738 PHRF1 PHD and ring finger domains 1 11p15.5 Rare single gene variant
N
3 4 De Rubeis S , et al. 2014 Edit
GEN194 PIK3CG phosphoinositide-3-kinase, catalytic, gamma polypeptide 7q22.3 Genetic Association
N
1 4 Serajee FJ , et al. 2003 Edit
GEN552 PIK3R2 phosphoinositide-3-kinase regulatory subunit 2 19p13.11 Syndromic
N
6 4 Rivire JB , et al. 2012 Edit
GEN195 PINX1 PIN2/TERF1 interacting, telomerase inhibitor 1 8p23.1 Rare Single Gene variant
N
2 5 Pinto D , et al. 2010 Edit
GEN196 PITX1 paired-like homeodomain 1 5q31.1 Genetic Association
N
9 6 Philippi A , et al. 2007 Edit
GEN371 PLAUR Plasminogen activator, urokinase receptor 19q13.31 Genetic association
N
1 1 Campbell DB , et al. 2009 Edit
GEN316 PLCB1 phospholipase C, beta 1 (phosphoinositide-specific) 20p12.3 Rare Single Gene variant
N
14 7 Christian SL , et al. 2008 Edit
GEN197 PLCD1 phospholipase C, delta 1 3p22.2 Rare Single Gene variant
N
2 9 O'Roak BJ , et al. 2011 Edit
GEN198 PLN phospholamban 6q22.31 Rare Single Gene variant
N
1 4 Marshall CR , et al. 2008 Edit
GEN972 PLPPR4 phospholipid phosphatase related 4 1p21.3-p21.2 Functional
N
0 3 Vogt J , et al. 2015 Edit
GEN962 PLXNA3 plexin A3 Xq28 Rare single gene variant
N
4 2 Krumm N , et al. 2015 Edit
GEN497 PLXNA4 Plexin A4 7q32.3 Functional
N
3 4 Prasad A , et al. 2013 Edit
GEN872 PLXNB1 plexin B1 3p21.31 Rare single gene variant
N
5 3 De Rubeis S , et al. 2014 Edit
GEN1015 PNPLA7 patatin like phospholipase domain containing 7 9q34.3 Rare single gene variant
N
5 3 O'Roak BJ , et al. 2012 Edit
GEN368 POGZ Pogo transposable element with ZNF domain 1q21.3 Rare single gene variant
N
74 22 Neale BM , et al. 2012 Edit
GEN922 POLA2 DNA polymerase alpha 2, accessory subunit 11q13.1 Rare single gene variant
N
2 2 Iossifov I , et al. 2014 Edit
GEN528 POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) 1p34.1 Syndromic
N
Yes 6 3 Yu TW , et al. 2013 Edit
GEN942 POMT1 protein O-mannosyltransferase 1 9q34.13 Rare single gene variant
N
13 2 Krumm N , et al. 2015 Edit
GEN199 PON1 paraoxonase 1 7q21.3 Genetic Association
N
2 5 D'Amelio M , et al. 2005 Edit
GEN495 POT1 Protection of telomeres 1 homolog (S. pombe) 7q31.33 Rare single gene variant
N
2 1 Prasad A , et al. 2013 Edit
GEN806 POU3F2 POU class 3 homeobox 2 6q16.1 Functional
N
7 3 Belinson H , et al. 2016 Edit
GEN512 PPFIA1 Protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1 11q13.3 Rare single gene variant
N
2 2 Schluth-Bolard C , et al. 2013 Edit
GEN901 PPM1D protein phosphatase, Mg2+/Mn2+ dependent 1D 17q23.2 Rare single gene variant
N
23 5 Sanders SJ , et al. 2012 Edit
GEN359 PPP1R1B Protein phosphatase 1, regulatory (inhibitor) subunit 1B 17q12 Genetic association
N
3 1 Hettinger JA , et al. 2012 Edit
GEN200 PPP1R3F protein phosphatase 1, regulatory (inhibitor) subunit 3F Xp11.23 Rare Single Gene variant
N
2 3 Piton A , et al. 2010 Edit
GEN810 PPP2R1B protein phosphatase 2 regulatory subunit A, beta 11q23.1 Rare single gene variant
N
3 4 Sanders SJ , et al. 2012 Edit
GEN786 PPP2R5D Protein phosphatase 2, regulatory subunit B', delta 6p21.1 Rare single gene variant
N
36 13 Shang L , et al. 2015 Edit
GEN791 PREX1 Phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1 20q13.13 Genetic association/Rare single gene variant/Functional
N
7 1 Li J , et al. 2015 Edit
GEN588 PRICKLE1 Prickle homolog 1 (Drosophila) 12q12 Syndromic
N
8 4 Paemka L , et al. 2013 Edit
GEN545 PRICKLE2 prickle planar cell polarity protein 2 3p14.1 Rare single gene variant/multigenic CNV
N
7 3 Sowers LP , et al. 2013 Edit
GEN201 PRKCB protein kinase C beta 16p12.2-p12.1 Genetic Association
N
5 6 Philippi A , et al. 2005 Edit
GEN457 PRKD1 Protein kinase D1 14q12 Syndromic
N
6 4 Ellaway CJ , et al. 2012 Edit
GEN839 PRKDC protein kinase, DNA-activated, catalytic polypeptide 8q11.21 Syndromic
N
5 4 Filiano AJ , et al. 2016 Edit
GEN188 PRKN parkin RBR E3 ubiquitin protein ligase 6q26 Genetic Association
N
45 14 Glessner JT , et al. 2009 Edit
GEN639 PRODH Proline dehydrogenase (oxidase) 1 22q11.21 Syndromic
N
17 6 Afenjar A , et al. 2007 Edit
GEN953 PRPF39 pre-mRNA processing factor 39 14q21.2 Rare single gene variant
N
4 3 De Rubeis S , et al. 2014 Edit
GEN1008 PRR12 proline rich 12 19q13.33 Syndromic
N
4 2 Leduc MS , et al. 2018 Edit
GEN458 PRSS38 Protease, serine, 38 1q42.13 Genetic association
N
4 3 Connolly JJ , et al. 2012 Edit
GEN310 PRUNE2 prune homolog 2 9q21.2 Rare Single Gene variant
N
6 6 Vaags AK , et al. 2012 Edit
GEN329 PSD3 pleckstrin and Sec7 domain containing 3 8p22 Rare Single Gene variant
N
8 5 Pinto D , et al. 2010 Edit
GEN202 PSMD10 proteasome (prosome, macropain) 26S subunit, non-ATPase, 10 Xq22.3 Rare Single Gene variant
N
1 6 Piton A , et al. 2010 Edit
GEN867 PSMD12 proteasome 26S subunit, non-ATPase 12 17q24.2 Syndromic
N
11 2 Kry S , et al. 2017 Edit
GEN848 PTBP2 polypyrimidine tract binding protein 2 1p21.3 Rare single gene variant
N
Yes 3 3 Doan RN , et al. 2016 Edit
GEN203 PTCHD1 patched domain containing 1 Xp22.11 Rare Single Gene variant
N
51 11 Marshall CR , et al. 2008 Edit
GEN204 PTEN phosphatase and tensin homolog (mutated in multiple advanced cancers 1) 10q23.31 Syndromic
N
74 49 Goffin A , et al. 2001 Edit
GEN540 PTGER3 prostaglandin E receptor 3 1p31.1 Rare single gene variant
N
Yes 1 1 Nava C , et al. 2013 Edit
GEN205 PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxyge nase) 1q31.1 Genetic Association
N
1 5 Yoo HJ , et al. 2008 Edit
GEN769 PTK7 Protein tyrosine kinase 7 (inactive) 6p21.1 Rare single gene variant
N
5 4 Sanders SJ , et al. 2015 Edit
GEN277 PTPN11 protein tyrosine phosphatase, non-receptor type 11 12q24.13 Syndromic
N
27 12 Tartaglia M , et al. 2001 Edit
GEN605 PTPRB protein tyrosine phosphatase, receptor type B 12q15 Genetic association
N
2 3 Wittkowski KM , et al. 2014 Edit
GEN206 PTPRC protein tyrosine phosphatase, receptor type, C 1q31.3-q32.1 Genetic Association
N
6 8 Pinto D , et al. 2010 Edit
GEN314 PTPRT protein tyrosine phosphatase, receptor type, T 20q12-q13.11 Rare Single Gene variant
N
5 8 Christian SL , et al. 2008 Edit
GEN734 PVALB Parvalbumin 22q12.3 Functional
N
0 2 Whr M , et al. 2015 Edit
GEN534 PXDN Peroxidasin homolog (Drosophila) 2p25.3 Multigenic CNV
N
6 4 Meyer KJ , et al. 2011 Edit
GEN724 PYHIN1 Pyrin and HIN domain family, member 1 1q23.1 Rare single gene variant
N
4 4 De Rubeis S , et al. 2014 Edit
GEN919 QRICH1 glutamine rich 1 3p21.31 Rare single gene variant
N
9 2 De Rubeis S , et al. 2014 Edit
GEN370 RAB11FIP5 RAB11 family interacting protein 5 2p13.2 Rare single gene variant
N
4 4 Roohi J , et al. 2008 Edit
GEN511 RAB19 RAB19, member RAS oncogene family 7q34 Rare single gene variant
N
1 1 Schluth-Bolard C , et al. 2013 Edit
GEN807 RAB2A RAB2A, member RAS oncogene family 8q12.1-q12.2 Rare single gene variant
N
5 8 Sanders SJ , et al. 2012 Edit
GEN207 RAB39B RAB39B, member RAS oncogene family Xq28 Rare Single Gene variant
N
10 10 Giannandrea M , et al. 2010 Edit
GEN725 RAB43 RAB43, member RAS oncogene family 3q21.3 Rare single gene variant
N
2 2 Krumm N , et al. 2015 Edit
GEN984 RAC1 Rac family small GTPase 1 7p22.1 Functional
N
7 4 Duffney LJ , et al. 2015 Edit
GEN951 RAD21L1 RAD21 cohesin complex component like 1 20p13 Rare single gene variant
N
3 2 Iossifov I , et al. 2012 Edit
GEN208 RAI1 retinoic acid induced 1 17p11.2 Syndromic
N
13 20 Nakamine A , et al. 2007 Edit
GEN760 RANBP17 RAN binding protein 17 5q35.1 Rare single gene variant
N
3 3 Sanders SJ , et al. 2015 Edit
GEN209 RAPGEF4 Rap guanine nucleotide exchange factor (GEF) 4 2q31.1 Rare Single Gene variant, Genetic Association
N
7 15 Bacchelli E , et al. 2003 Edit
GEN560 RASD1 ras related dexamethasone induced 1 17p11.2 Functional
N
0 1 Lacaria M , et al. 2013 Edit
GEN394 RASSF5 Ras association domain family member 5 1q32.1 Genetic association
N
2 2 Anney R , et al. 2012 Edit
GEN210 RB1CC1 RB1-inducible coiled-coil 1 8q11.23 Rare Single Gene variant
N
7 5 Marshall CR , et al. 2008 Edit
GEN001 RBFOX1 RNA binding protein, fox-1 homolog (C. elegans) 1 16p13.3 Genetic Association
N
71 32 Sebat J , et al. 2007 Edit
GEN726 RBM27 RNA binding motif protein 27 5q32 Rare single gene variant
N
2 2 Krumm N , et al. 2015 Edit
GEN519 RBM8A RNA binding motif protein 8A 1q21.1 Multigenic CNV
N
2 5 Nguyen LS , et al. 2013 Edit
GEN211 RBMS3 RNA binding motif, single stranded interacting protein 3 3p24.1 Rare Single Gene variant
N
1 2 O'Roak BJ , et al. 2011 Edit
GEN212 REEP3 receptor accessory protein 3 10q21.3 Rare single gene variant
N
1 3 Castermans D , et al. 2007 Edit
GEN213 RELN Reelin 7q22.1 Genetic Association
N
107 46 Persico AM , et al. 2001 Edit
GEN491 RERE Arginine-glutamic acid dipeptide (RE) repeats 1p36.23 Rare single gene variant
N
25 6 Prasad A , et al. 2013 Edit
GEN214 RFWD2 ring finger and WD repeat domain 2 1q25.1-q25.2 Genetic Association
N
2 9 Glessner JT , et al. 2009 Edit
GEN940 RFX3 regulatory factor X3 9p24.2 Rare single gene variant
N
5 5 De Rubeis S , et al. 2014 Edit
GEN215 RGS7 regulator of G-protein signaling 7 1q43 Rare Single Gene variant
N
Yes 6 6 Pinto D , et al. 2010 Edit
GEN983 RHEB Ras homolog, mTORC1 binding 7q36.1 Syndromic
N
2 1 Reijnders MRF , et al. 2017 Edit
GEN216 RHOXF1 Rhox homeobox family, member 1 Xq24 Genetic Association
N
2 3 Wang K , et al. 2009 Edit
GEN637 RIMS1 Regulating synaptic membrane exocytosis 1 6q13 Rare single gene variant
N
10 4 Dong S , et al. 2014 Edit
GEN217 RIMS3 regulating synaptic membrane exocytosis 3 1p34.2 Rare single gene variant
N
7 4 Kumar RA , et al. 2009 Edit
GEN815 RIT2 Ras-like without CAAX 2 18q12.3 Genetic association
N
6 3 Liu X , et al. 2015 Edit
GEN708 RLIM Ring finger protein, LIM domain interacting Xq13.2 Rare single gene variant
N
9 4 Tnne E , et al. 2015 Edit
GEN774 RNF135 Ring finger protein 135 17q11.2 Syndromic
N
7 2 Tastet J , et al. 2015 Edit
GEN960 RNF38 ring finger protein 38 9p13.2 Rare single gene variant
N
2 2 Sanders SJ , et al. 2012 Edit
GEN521 RNPS1 RNA binding protein with serine rich domain 1 16p13.3 Multigenic CNV
N
1 1 Nguyen LS , et al. 2013 Edit
GEN218 ROBO1 roundabout, axon guidance receptor, homolog 1 (Drosophila) 3p12.3 Functional
N
7 10 Hu VW , et al. 2006 Edit
GEN493 ROBO2 roundabout guidance receptor 2 3p12.3 Functional
N
8 8 Prasad A , et al. 2013 Edit
GEN219 RORA RAR-related orphan receptor A 15q22.2 Functional
N
20 18 Nguyen A , et al. 2010 Edit
GEN936 RP11-1407O15.2 Rare single gene variant
N
2 1 Lim ET , et al. 2017 Edit
GEN220 RPL10 ribosomal protein L10 Xq28 Rare single gene variant
N
7 13 Klauck SM , et al. 2006 Edit
GEN375 RPP25 ribonuclease P and MRP subunit p25 15q24.2 Functional
N
0 1 Huang HS , et al. 2010 Edit
GEN221 RPS6KA2 ribosomal protein S6 kinase, 90kDa, polypeptide 2 6q27 Rare Single Gene variant
N
1 3 Marshall CR , et al. 2008 Edit
GEN591 RPS6KA3 Ribosomal protein S6 kinase, 90kDa, polypeptide 3 Xp22.12 Syndromic
N
6 9 O'Roak BJ , et al. 2012 Edit
GEN503 SAE1 SUMO1 activating enzyme subunit 1 19q13.32 Rare single gene variant
N
6 3 Prasad A , et al. 2013 Edit
GEN931 SASH1 SAM and SH3 domain containing 1 6q24.3-q25.1 Rare single gene variant
N
2 2 Iossifov I , et al. 2014 Edit
GEN346 SATB2 SATB homeobox 2 2q33.1 Syndromic
N
102 21 Talkowski ME , et al. 2012 Edit
GEN473 SBF1 SET binding factor 1 22q13.33 Rare Single Gene variant
N
7 6 O'Roak BJ , et al. 2012 Edit
GEN222 SCFD2 sec1 family domain containing 2 4q12 Rare Single Gene variant
N
4 2 Pinto D , et al. 2010 Edit
GEN223 SCN1A sodium channel, voltage-gated, type I, alpha subunit 2q24.3 Rare Single Gene variant
N
129 46 Weiss LA , et al. 2003 Edit
GEN224 SCN2A sodium channel, voltage-gated, type II, alpha subunit 2q24.3 Rare Single Gene variant
N
194 51 Weiss LA , et al. 2003 Edit
GEN739 SCN4A Sodium channel, voltage gated, type IV alpha subunit 17q23.3 Rare single gene variant
N
3 3 Iossifov I , et al. 2014 Edit
GEN695 SCN5A Sodium channel, voltage-gated, type V, alpha subunit 3p22.2 Rare single gene variant
N
3 2 Li J , et al. 2015 Edit
GEN485 SCN7A Sodium channel, voltage-gated, type VII, alpha subunit 2q24.3 Rare Single Gene variant
N
Yes 3 3 Morrow EM , et al. 2008 Edit
GEN327 SCN8A sodium channel, voltage gated, type VIII, alpha subunit 12q13.13 Rare single gene variant
N
71 26 Veeramah KR , et al. 2012 Edit
GEN861 SCN9A sodium voltage-gated channel alpha subunit 9 2q24.3 Rare single gene variant
N
25 5 Rubinstein M , et al. 2016 Edit
GEN954 SCP2 sterol carrier protein 2 1p32.3 Rare single gene variant
N
4 2 Sanders SJ , et al. 2012 Edit
GEN225 SDC2 syndecan 2 (heparan sulfate proteoglycan 1, cell surface-associated, fibroglycan ) 8q22.1 Genetic association
N
2 4 Ishikawa-Brush Y , et al. 1997 Edit
GEN459 SDK1 Sidekick cell adhesion molecule 1 7p22.2 Genetic association
N
6 4 Connolly JJ , et al. 2012 Edit
GEN226 SEMA5A sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A 5p15.31 Functional
N
11 16 Melin M , et al. 2006 Edit
GEN372 SERPINE1 Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1 7q22.1 Genetic association
N
1 2 Campbell DB , et al. 2009 Edit
GEN640 SETBP1 SET binding protein 1 18q12.3 Rare single gene variant
N
31 10 O'Roak BJ , et al. 2012 Edit
GEN994 SETD1B SET domain containing 1B 12q24.31 Syndromic
N
4 6 Iossifov I , et al. 2014 Edit
GEN474 SETD2 SET domain containing 2 3p21.31 Rare Single Gene variant
N
13 10 O'Roak BJ , et al. 2012 Edit
GEN607 SETD5 SET domain containing 5 3p25.3 Rare Single Gene variant
N
68 22 Grozeva D , et al. 2014 Edit
GEN460 SETDB1 SET domain, bifurcated 1 1q21.3 Rare single gene variant
N
11 3 Cukier HN , et al. 2012 Edit
GEN461 SETDB2 SET domain, bifurcated 2 13q14.2 Syndromic
N
10 2 Cukier HN , et al. 2012 Edit
GEN227 SEZ6L2 SEZ6L2 seizure related 6 homolog (mouse)-like 2 16p11.2 Rare Single Gene variant
N
6 6 Kumar RA , et al. 2009 Edit
GEN601 SGSH N-sulfoglucosamine sulfohydrolase 17q25.3 Syndromic
N
1 4 Rumsey RK , et al. 2014 Edit
GEN475 SGSM3 Small G protein signaling modulator 3 22q13.1 Rare Single Gene variant
N
6 4 O'Roak BJ , et al. 2012 Edit
GEN228 SH3KBP1 SH3-domain kinase binding protein 1 Xp22.12 Rare Single Gene variant
N
1 4 Piton A , et al. 2010 Edit
GEN340 SHANK1 SH3 and multiple ankyrin repeat domains 1 19q13.33 Rare Single Gene variant
N
35 5 Sato D , et al. 2012 Edit
GEN229 SHANK2 SH3 and multiple ankyrin repeat domains 2 11q13.3-q13.4 Rare Single Gene variant
N
72 24 Berkel S , et al. 2010 Edit
GEN230 SHANK3 SH3 and multiple ankyrin repeat domains 3 22q13.33 Rare Single Gene variant
N
256 66 Durand CM , et al. 2006 Edit
GEN821 SHOX short stature homeobox Yp11.2 Rare single gene variant
N
27 2 Tropeano M , et al. 2016 Edit
GEN712 SIK1 Salt-inducible kinase 1 21q22.3 Rare single gene variant
N
7 5 Hansen J , et al. 2015 Edit
GEN837 SIN3A SIN3 transcription regulator family member A 15q24.2 Rare single gene variant
N
14 6 Witteveen JS , et al. 2016 Edit
GEN783 SLC12A5 Solute carrier family 12 (potassium/chloride transporter), member 5 20q13.12 Rare single gene variant
N
12 5 Merner ND , et al. 2015 Edit
GEN331 SLC16A3 solute carrier family 16, member 3 (monocarboxylic acid transporter 4) 17q25.3 Rare Single Gene variant
N
4 2 Pinto D , et al. 2010 Edit
GEN462 SLC16A7 Solute carrier family 16, member 7 (monocarboxylic acid transporter 2) 12q14.1 Rare single gene variant
N
1 1 Winiowiecka-Kowalnik B , et al. 2012 Edit
GEN231 SLC1A1 solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1 9p24.2 Genetic association
N
13 11 Brune CW , et al. 2009 Edit
GEN706 SLC1A2 Solute carrier family 1 (glial high affinity glutamate transporter), member 2 11p13 Multigenic CNV
N
23 6 Aida T , et al. 2015 Edit
GEN393 SLC22A15 Solute carrier family 22, member 15 1p13.1 Genetic association
N
1 1 Anney R , et al. 2012 Edit
GEN809 SLC22A9 solute carrier family 22 member 9 11q12.3 Rare single gene variant
N
2 3 Sanders SJ , et al. 2012 Edit
GEN506 SLC24A2 solute carrier family 24 member 2 9p22.1 Rare single gene variant
N
2 3 Prasad A , et al. 2013 Edit
GEN232 SLC25A12 solute carrier family 25 (mitochondrial carrier, Aralar), member 12 2q31.1 Genetic Association
N
15 20 Ramoz N , et al. 2004 Edit
GEN463 SLC25A14 Solute carrier family 25 (mitochondrial carrier, brain), member 14 Xq26.1 Functional
N
0 1 Anitha A , et al. 2012 Edit
GEN464 SLC25A24 Solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 24 1p13.3 Functional
N
1 2 Anitha A , et al. 2012 Edit
GEN465 SLC25A27 solute carrier family 25 member 27 6p12.3 Genetic association/functional
N
1 1 Anitha A , et al. 2012 Edit
GEN952 SLC25A39 solute carrier family 25 member 39 17q21.31 Rare single gene variant
N
12 3 Iossifov I , et al. 2012 Edit
GEN784 SLC27A4 Solute carrier family 27 (fatty acid transporter), member 4 9q34.11 Rare single gene variant, genetic association
N
3 1 Maekawa M , et al. 2015 Edit
GEN622 SLC29A4 solute carrier family 29 member 4 7p22.1 Rare single gene variant
N
3 1 Adamsen D , et al. 2014 Edit
GEN835 SLC30A3 solute carrier family 30 member 3 2p23.3 Functional
N
0 2 Yoo MH , et al. 2016 Edit
GEN233 SLC30A5 solute carrier family 30 5q13.1-q13.2 Rare Single Gene variant
N
1 3 O'Roak BJ , et al. 2011 Edit
GEN832 SLC33A1 solute carrier family 33 member 1 3q25.31 Functional
N
0 4 Hullinger R , et al. 2016 Edit
GEN575 SLC35A3 Solute carrier family 35 (UDP-N-acetylglucosamine (UDP-GlcNAc) transporter), member A3 1p21.2 Rare single gene variant
N
Yes 3 2 Edvardson S , et al. 2013 Edit
GEN908 SLC35B1 solute carrier family 35 member B1 17q21.33 Genetic association
N
2 1 Cantor RM , et al. 2017 Edit
GEN270 SLC38A10 solute carrier family 38, member 10 17q25.3 Rare Single Gene variant
N
1 1 Celestino-Soper PB , et al. 2011 Edit
GEN402 SLC39A11 solute carrier family 39 member 11 17q24.3-q25.1 Genetic association
N
1 1 Anney R , et al. 2012 Edit
GEN905 SLC45A1 solute carrier family 45 member 1 1p36.23 Rare single gene variant
N
Yes 3 2 Srour M , et al. 2017 Edit
GEN234 SLC4A10 solute carrier family 4, sodium bicarbonate transporter-like, member 10 2q24.2 Genetic Association
N
3 6 Sebat J , et al. 2007 Edit
GEN714 SLC6A1 Solute carrier family 6 (neurotransmitter transporter), member 1 3p25.3 Rare single gene variant
N
50 17 Sanders SJ , et al. 2012 Edit
GEN568 SLC6A3 Solute carrier family 6 (neurotransmitter transporter), member 3 5p15.33 Rare single gene variant
N
12 13 Hamilton PJ , et al. 2013 Edit
GEN235 SLC6A4 solute carrier family 6 (neurotransmitter transporter, serotonin), member 4 17q11.2 Genetic Association
N
49 25 Cook EH Jr , et al. 1997 Edit
GEN236 SLC6A8 solute carrier family 6 (neurotransmitter transporter, creatine), member 8 Xq28 Rare Single Gene variant
N
12 10 Po-Argelles P , et al. 2006 Edit
GEN744 SLC7A3 Solute carrier family 7 (cationic amino acid transporter, y+ system), member 3 Xq13.1 Rare single gene variant
N
4 2 Nava C , et al. 2015 Edit
GEN860 SLC7A5 solute carrier family 7 member 5 16q24.2 Functional/syndromic
N
Yes 2 1 Tafrlungeanu DC , et al. 2016 Edit
GEN957 SLC7A7 solute carrier family 7 member 7 14q11.2 Rare single gene variant
N
3 2 O'Roak BJ , et al. 2012 Edit
GEN237 SLC9A6 solute carrier family 9 (sodium/hydrogen exchanger), member 6 Xq26.3 Syndromic
N
24 12 Garbern JY , et al. 2010 Edit
GEN238 SLC9A9 solute carrier family 9 (sodium/hydrogen exchanger), member 9 3q24 Rare Single Gene variant
N
18 11 Morrow EM , et al. 2008 Edit
GEN704 SLCO1B3 Solute carrier organic anion transporter family, member 1B3 12p12.2 Rare single gene variant
N
13 2 De Rubeis S , et al. 2014 Edit
GEN597 SLIT3 slit guidance ligand 3 5q34-q35.1 Multigenic CNV
N
4 3 Cukier HN , et al. 2014 Edit
GEN558 SLITRK5 SLIT and NTRK-like family, member 5 13q31.2 Functional
N
9 8 Shmelkov SV , et al. 2010 Edit
GEN916 SMAD4 SMAD family member 4 18q21.2 Rare single gene variant
N
8 3 Iossifov I , et al. 2014 Edit
GEN731 SMARCA2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 9p24.3 Genetic association/functional
N
18 14 Wolff D , et al. 2012 Edit
GEN923 SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 19p13.2 Syndromic
N
10 6 De Rubeis S , et al. 2014 Edit
GEN732 SMARCC2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2 12q13.2 Functional
N
7 9 Neale BM , et al. 2012 Edit
GEN913 SMC1A structural maintenance of chromosomes 1A Xp11.22 Syndromic
N
15 3 Huisman S , et al. 2017 Edit
GEN877 SMC3 structural maintenance of chromosomes 3 10q25.2 Syndromic
N
6 6 Iossifov I , et al. 2014 Edit
GEN520 SMG6 SMG6, nonsense mediated mRNA decay factor 17p13.3 Multigenic CNV
N
3 2 Nguyen LS , et al. 2013 Edit
GEN701 SNAP25 Synaptosomal-associated protein, 25kDa 20p12.2 Genetic association
N
5 6 Braida D , et al. 2015 Edit
GEN239 SND1 staphylococcal nuclease and tudor domain containing 1 7q32.1 Genetic Association
N
2 8 Holt R , et al. 2010 Edit
GEN343 SNRPN small nuclear ribonucleoprotein polypeptide N 15q11.2 Rare Single Gene variant
N
6 5 Talkowski ME , et al. 2012 Edit
GEN360 SNTG2 syntrophin gamma 2 2p25.3 Rare single gene variant
N
4 5 Rosenfeld JA , et al. 2010 Edit
GEN717 SNX14 Sorting nexin 14 6q14.3 Syndromic
N
21 5 Akizu N , et al. 2015 Edit
GEN466 SNX19 Sorting nexin 19 11q24.3-q25 Rare single gene variant
N
3 3 Winiowiecka-Kowalnik B , et al. 2012 Edit
GEN604 SOD1 superoxide dismutase 1 21q22.11 Functional
N
2 2 Kova J , et al. 2013 Edit
GEN366 SOX5 SRY-box 5 12p12.1 Rare single gene variant
N
23 13 Rosenfeld JA , et al. 2010 Edit
GEN793 SPARCL1 SPARC like 1 4q22.1 Functional
N
13 3 De Rubeis S , et al. 2014 Edit
GEN348 SPAST Spastin 2p22.3 Rare Single Gene variant
N
6 8 Talkowski ME , et al. 2012 Edit
GEN947 SPP2 secreted phosphoprotein 2 2q37.1 Rare single gene variant
N
4 3 Neale BM , et al. 2012 Edit
GEN871 SRCAP Snf2 related CREBBP activator protein 16p11.2 Rare single gene variant
N
7 5 Iossifov I , et al. 2014 Edit
GEN556 SRD5A2 Steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2) 2p23.1 Genetic association
N
2 3 Zettergren A , et al. 2013 Edit
GEN879 SRGAP3 SLIT-ROBO Rho GTPase activating protein 3 3p25.3 Rare single gene variant
N
4 3 Iossifov I , et al. 2014 Edit
GEN671 SRRM4 Serine/arginine repetitive matrix 4 12q24.23 Functional
N
1 5 Irimia M , et al. 2014 Edit
GEN886 SRSF11 serine and arginine rich splicing factor 11 1p31.1 Rare single gene variant
N
3 3 De Rubeis S , et al. 2014 Edit
GEN740 SSPO SCO-spondin 7q36.1 Rare single gene variant
N
4 3 Krumm N , et al. 2015 Edit
GEN977 SSRP1 structure specific recognition protein 1 11q12.1 Rare single gene variant
N
2 2 Iossifov I , et al. 2014 Edit
GEN240 ST7 suppression of tumorigenicity 7 7q31.2 Rare Single Gene variant
N
5 4 Vincent JB , et al. 2000 Edit
GEN420 ST8SIA2 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2 15q26.1 Genetic association
N
11 8 Anney R , et al. 2010 Edit
GEN863 STAG1 stromal antigen 1 3q22.3 Syndromic
N
17 2 Lehalle D , et al. 2017 Edit
GEN842 STAT1 signal transducer and activator of transcription 1 2q32.2 Rare single gene variant
N
1 2 Filiano AJ , et al. 2016 Edit
GEN241 STK39 serine threonine kinase 39 (STE20/SPS1 homolog, yeast) 2q24.3 Genetic Association
N
3 5 Ramoz N , et al. 2008 Edit
GEN600 STX1A Syntaxin 1A (brain) 7q11.23 Genetic association
N
9 6 Nakamura K , et al. 2008 Edit
GEN390 STXBP1 Syntaxin binding protein 1 9q34.11 Syndromic
N
133 32 Campbell IM , et al. 2012 Edit
GEN598 STXBP5 Syntaxin binding protein 5 (tomosyn) 6q24.3 Rare single gene variant
N
17 6 Cukier HN , et al. 2014 Edit
GEN778 STYK1 Serine/threonine/tyrosine kinase 1 12p13.2 Genetic association
N
2 1 Kuo PH , et al. 2015 Edit
GEN242 SUCLG2 succinate-CoA ligase, GDP-forming, beta subunit 3p14.1 Rare Single Gene variant
N
4 4 Bucan M , et al. 2009 Edit
GEN504 SYAP1 Synapse associated protein 1 Xp22.2 Rare single gene variant
N
3 2 Prasad A , et al. 2013 Edit
GEN243 SYN1 Synapsin 1 Xp11.3-p11.23 Rare Single Gene variant
N
11 18 Fassio A , et al. 2011 Edit
GEN563 SYN2 Synapsin II 3p25.2 Genetic association
N
5 6 Corradi A , et al. 2013 Edit
GEN564 SYN3 Synapsin III 22q12.3 Functional
N
1 2 Greco B , et al. 2013 Edit
GEN244 SYNE1 spectrin repeat containing, nuclear envelope 1 6q25.2 Rare Single Gene variant
N
20 15 O'Roak BJ , et al. 2011 Edit
GEN245 SYNGAP1 synaptic Ras GTPase activating protein 1 6p21.32 Rare Single Gene variant
N
87 43 Hamdan FF , et al. 2011 Edit
GEN929 SYNJ1 synaptojanin 1 21q22.11 Rare single gene variant
N
2 1 Lim ET , et al. 2017 Edit
GEN246 SYT17 synaptotagmin XVII 16p12.3 Genetic Association
N
2 2 Wang K , et al. 2009 Edit
GEN341 SYT3 synaptotagmin III 19q13.33 Rare Single Gene variant
N
1 1 Sato D , et al. 2012 Edit
GEN792 TAF1 TATA-box binding protein associated factor 1 Xq13.1 Rare single gene variant
N
14 3 O'Rawe JA , et al. 2015 Edit
GEN392 TAF1C TATA-box binding protein associated factor, RNA polymerase I subunit C 16q24.1 Genetic association
N
2 2 Anney R , et al. 2012 Edit
GEN247 TAF1L TAF1 RNA polymerase II 9p21.1 Rare Single Gene variant
N
1 3 O'Roak BJ , et al. 2011 Edit
GEN893 TAF6 TATA-box binding protein associated factor 6 7q22.1 Rare single gene variant
N
4 2 Iossifov I , et al. 2014 Edit
GEN878 TANC2 etratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 17q23.2-q23.3 Rare single gene variant
N
9 6 Iossifov I , et al. 2014 Edit
GEN1006 TAOK2 TAO kinase 2 16p11.2 Rare single gene variant
N
25 5 C Yuen RK , et al. 2017 Edit
GEN980 TBC1D23 TBC1 domain family member 23 3q12.1-q12.2 Syndromic
N
7 2 Marin-Valencia I , et al. 2017 Edit
GEN727 TBC1D31 TBC1 domain family, member 31 8q24.13 Rare single gene variant
N
3 3 Iossifov I , et al. 2014 Edit
GEN248 TBC1D5 TBC1 domain family, member 5 3p24.3 Rare Single Gene variant
N
4 7 Pinto D , et al. 2010 Edit
GEN543 TBC1D7 TBC1 domain family, member 7 6p24.1 Functional
N
2 4 Dibble CC , et al. 2012 Edit
GEN301 TBL1X transducin (beta)-like 1X-linked Xp22.31-p22.2 Genetic Association
N
3 1 Chung RH , et al. 2011 Edit
GEN476 TBL1XR1 transducin beta like 1 X-linked receptor 1 3q26.32 Rare Single Gene variant
N
20 15 O'Roak BJ , et al. 2012 Edit
GEN477 TBR1 T-box, brain, 1 2q24.2 Rare Single Gene variant
N
26 20 O'Roak BJ , et al. 2012 Edit
GEN286 TBX1 T-box 1 22q11.21 Syndromic
N
1 1 Paylor R , et al. 2006 Edit
GEN633 TCF20 Transcription factor 20 (AR1) 22q13.2 Rare single gene variant
N
16 8 Babbs C , et al. 2014 Edit
GEN592 TCF4 Transcription factor 4 18q21.2 Syndromic
N
39 38 Van Balkom ID , et al. 2012 Edit
GEN652 TCF7L2 Transcription factor 7-like 2 (T-cell specific, HMG-box) 10q25.2-q25.3 Rare single gene variant
N
3 2 Iossifov I , et al. 2014 Edit
GEN249 TDO2 tryptophan 2,3-dioxygenase 4q32.1 Genetic Association
N
5 4 Nabi R , et al. 2004 Edit
GEN933 TECTA tectorin alpha 11q23.3 Rare single gene variant
N
5 5 Sanders SJ , et al. 2012 Edit
GEN027 TERB2 telomere repeat binding bouquet formation protein 2 15q21.1 Rare Single Gene variant
N
1 1 Pinto D , et al. 2010 Edit
GEN757 TERF2 Telomeric repeat binding factor 2 16q22.1 Rare single gene variant
N
2 3 Iossifov I , et al. 2014 Edit
GEN823 TERT telomerase reverse transcriptase 5p15.33 Rare single gene variant
N
1 2 Kim KC , et al. 2015 Edit
GEN728 TET2 Tet methylcytosine dioxygenase 2 4q24 Rare single gene variant
N
4 4 Iossifov I , et al. 2014 Edit
GEN250 TGM3 transglutaminase 3 20p13 Rare Single Gene variant
N
1 5 O'Roak BJ , et al. 2011 Edit
GEN251 TH tyrosine hydroxylase 11p15.5 Genetic Association
N
4 8 Comings DE , et al. 1995 Edit
GEN696 THAP8 THAP domain containing 8 19q13.12 Rare single gene variant
N
1 1 Li J , et al. 2015 Edit
GEN638 THBS1 Thrombospondin 1 15q14 Genetic association/rare single gene variant
N
7 2 Lu L , et al. 2014 Edit
GEN421 THRA thyroid hormone receptor alpha 17q21.1 Functional
N
1 3 Pilhatsch M , et al. 2010 Edit
GEN252 TLK2 tousled-like kinase 2 17q23.2 Rare Single Gene variant
N
42 10 O'Roak BJ , et al. 2011 Edit
GEN959 TM4SF19 transmembrane 4 L six family member 19 3q29 Rare single gene variant
N
2 3 Iossifov I , et al. 2012 Edit
GEN566 TM4SF20 Transmembrane 4 L six family member 20 2q36.3 Rare single gene variant
N
1 1 Wiszniewski W , et al. 2013 Edit
GEN467 TMEM231 Transmembrane protein 231 16q23.1 Syndromic
N
5 2 Srour M , et al. 2012 Edit
GEN269 TMLHE trimethyllysine hydroxylase, epsilon Xq28 Rare Single Gene variant
N
10 5 Celestino-Soper PB , et al. 2011 Edit
GEN295 TNIP2 TNFAIP3 interacting protein 2 4p16.3 Rare Single Gene variant
N
1 1 Salyakina D , et al. 2011 Edit
GEN697 TNN Tenascin N 1q25.1 Rare single gene variant
N
3 3 Li J , et al. 2015 Edit
GEN653 TNRC6B Trinucleotide repeat containing 6B 22q13.1 Rare single gene variant
N
4 5 Dong S , et al. 2014 Edit
GEN468 TOMM20 Translocase of outer mitochondrial membrane 20 homolog (yeast) 1q42.3 Functional
N
0 1 Anitha A , et al. 2012 Edit
GEN569 TOP1 Topoisomerase (DNA) I 20q12 Rare Single Gene variant
N
2 6 King IF , et al. 2013 Edit
GEN561 TOP3B Topoisomerase (DNA) III beta 22q11.22 Rare single gene variant
N
5 5 Xu D , et al. 2013 Edit
GEN254 TPH2 tryptophan hydroxylase 2 12q21.1 Genetic Association
N
10 12 Coon H , et al. 2005 Edit
GEN381 TPO Thyroid peroxidase 2p25.3 Genetic association
N
2 1 Ramos PS , et al. 2012 Edit
GEN914 TRAPPC6B trafficking protein particle complex 6B 14q21.1 Rare single gene variant
N
4 2 Marin-Valencia I , et al. 2017 Edit
GEN945 TRAPPC9 trafficking protein particle complex 9 8q24.3 Rare single gene variant
N
44 11 De Rubeis S , et al. 2014 Edit
GEN584 TRIM33 Tripartite motif containing 33 1p13.2 Genetic association/Functional
N
4 1 Xia K , et al. 2013 Edit
GEN664 TRIO Trio Rho guanine nucleotide exchange factor 5p15.2 Rare Single Gene variant
N
61 20 De Rubeis S , et al. 2014 Edit
GEN354 TRIP12 Thyroid hormone receptor interactor 12 2q36.3 Rare single gene variant
N
Yes 38 14 Chahrour MH , et al. 2012 Edit
GEN666 TRPC6 Transient receptor potential cation channel, subfamily C, member 6 11q22.1 Rare single gene variant/functional
N
11 2 Griesi-Oliveira K , et al. 2014 Edit
GEN513 TRPM1 transient receptor potential cation channel subfamily M member 1 15q13.3 Rare single gene variant
N
7 3 Girirajan S , et al. 2013 Edit
GEN255 TSC1 tuberous sclerosis 1 9q34.13 Rare Single Gene variant
N
33 17 Smalley SL 1998 Edit
GEN256 TSC2 tuberous sclerosis 2 16p13.3 Genetic Association
N
74 26 Smalley SL 1998 Edit
GEN850 TSHZ3 teashirt zinc finger homeobox 3 19 Rare single gene variant
N
7 2 Caubit X , et al. 2016 Edit
GEN258 TSN translin 2q14.3 Functional
N
0 3 Stein JM , et al. 2006 Edit
GEN950 TSPAN17 tetraspanin 17 5q35.2 Rare single gene variant
N
6 3 O'Roak BJ , et al. 2012 Edit
GEN259 TSPAN7 tetraspanin 7 Xp11.4 Rare Single Gene variant
N
8 7 Piton A , et al. 2010 Edit
GEN026 TSPOAP1 TSPO associated protein 1 17q22 Rare Single Gene variant
N
8 5 Bucan M , et al. 2009 Edit
GEN907 TTC25 tetratricopeptide repeat domain 25 17q21.2 Genetic association
N
9 1 Vojinovic D , et al. 2017 Edit
GEN565 TTI2 TELO2 interacting protein 2 8p12 Rare single gene variant
N
1 1 Langout M , et al. 2013 Edit
GEN260 TTN titin 2q31.2 Rare Single Gene variant
N
45 17 O'Roak BJ , et al. 2011 Edit
GEN321 TUBGCP5 tubulin, gamma complex associated protein 5 15q11.2 Multigenic CNV
N
4 4 Leblond CS , et al. 2012 Edit
GEN422 TYR tyrosinase 11q14.3 Functional
N
3 3 Hamilton SM , et al. 2010 Edit
GEN546 UBA6 Ubiquitin-like modifier activating enzyme 6 4q13.2 Functional
N
0 2 Lee PC , et al. 2013 Edit
GEN261 UBE2H ubiquitin-conjugating enzyme E2H (UBC8 homolog, yeast) 7q32.2 Genetic Association
N
2 2 Vourc'h P , et al. 2003 Edit
GEN262 UBE3A ubiquitin protein ligase E3A 15q11.2 Genetic Association
N
19 26 Nurmi EL , et al. 2001 Edit
GEN351 UBE3B ubiquitin protein ligase E3B 12q24.11 Rare single gene variant
N
Yes 15 6 Chahrour MH , et al. 2012 Edit
GEN478 UBE3C Ubiquitin protein ligase E3C 7q36.3 Rare Single Gene variant
N
4 4 O'Roak BJ , et al. 2012 Edit
GEN300 UBL7 ubiquitin-like 7 (bone marrow stromal cell-derived) 15q24.1 Rare Single Gene variant
N
1 1 Salyakina D , et al. 2011 Edit
GEN887 UBN2 ubinuclein 2 7q34 Rare single gene variant
N
21 3 Iossifov I , et al. 2014 Edit
GEN469 UBR5 ubiquitin protein ligase E3 component n-recognin 5 8q22.3 Rare single gene variant
N
5 6 Kato T , et al. 2012 Edit
GEN275 UBR7 ubiquitin protein ligase E3 component n-recognin 7 (putative) 14q32.12 Rare Single Gene variant
N
Yes 1 1 Najmabadi H , et al. 2011 Edit
GEN845 UCN3 urocortin 3 10p15.1 Functional
N
0 1 Shemesh Y , et al. 2016 Edit
GEN869 UNC13A unc-13 homolog A 19p13.11 Rare single gene variant
N
5 5 Lipstein N , et al. 2017 Edit
GEN976 UNC79 unc-79 homolog, NALCN channel complex subunit 14q32.12 Rare single gene variant
N
2 2 Iossifov I , et al. 2014 Edit
GEN873 UNC80 unc-80 homolog, NALCN activator 2q34 Rare single gene variant
N
5 4 Iossifov I , et al. 2014 Edit
GEN509 UPB1 beta-ureidopropionase 1 22q11.23 Rare single gene variant
N
1 1 Prasad A , et al. 2013 Edit
GEN518 UPF2 UPF2, regulator of nonsense mediated mRNA decay 10p14 Multigenic CNV
N
3 4 Nguyen LS , et al. 2013 Edit
GEN364 UPF3B UPF3B, regulator of nonsense mediated mRNA decay Xq24 Syndromic
N
14 12 Tarpey PS , et al. 2007 Edit
GEN935 USH2A usherin 1q41 Rare single gene variant
N
3 3 Neale BM , et al. 2012 Edit
GEN903 USP15 ubiquitin specific peptidase 15 12q14.1 Rare single gene variant
N
3 3 O'Roak BJ , et al. 2012 Edit
GEN770 USP45 Ubiquitin specific peptidase 45 6q16.2 Rare single gene variant
N
2 2 Sanders SJ , et al. 2015 Edit
GEN758 USP7 Ubiquitin specific peptidase 7 (herpes virus-associated) 16p13.2 Rare single gene variant
N
13 6 Hao YH , et al. 2015 Edit
GEN313 USP9Y ubiquitin specific peptidase 9, Y-linked Yq11.221 Genetic Association
N
2 2 Wang K , et al. 2009 Edit
GEN698 UTRN Utrophin 6q24.2 Rare single gene variant
N
2 1 Li J , et al. 2015 Edit
GEN263 VASH1 vasohibin 1 14q24.3 Genetic Association
N
2 4 Wang K , et al. 2009 Edit
GEN665 VIL1 Villin 1 2q35 Rare single gene variant
N
16 1 De Rubeis S , et al. 2014 Edit
GEN554 VIP Vasoactive intestinal peptide 6q25.2 Functional
N
2 6 Hill JM , et al. 2007 Edit
GEN787 VLDLR Very low density lipoprotein receptor 9p24.2 Functional
N
0 3 Fatemi SH , et al. 2005 Edit
GEN281 VPS13B vacuolar protein sorting 13 homolog B (yeast) 8q22.2 Syndromic
N
Yes 59 18 Kolehmainen J , et al. 2003 Edit
GEN978 VRK3 vaccinia related kinase 3 19q13.33 Functional
N
0 1 Kang MS , et al. 2017 Edit
GEN751 VSIG4 V-set and immunoglobulin domain containing 4 Xq12 Rare single gene variant
N
2 2 Lim ET , et al. 2013 Edit
GEN654 WAC WW domain containing adaptor with coiled-coil 10p12.1 Syndromic
N
27 15 Iossifov I , et al. 2014 Edit
GEN635 WDFY3 WD repeat and FYVE domain containing 3 4q21.23 Rare Single Gene variant
N
37 11 Iossifov I , et al. 2012 Edit
GEN918 WDR26 WD repeat domain 26 1q42.11-q42.12 Rare single gene variant
N
17 3 Skraban CM , et al. 2017 Edit
GEN699 WDR93 WD repeat domain 93 15q26.1 Rare single gene variant
N
Yes 1 1 Alazami AM , et al. 2015 Edit
GEN264 WNK3 WNK lysine deficient protein kinase 3 Xp11.22 Rare Single Gene variant
N
1 6 Piton A , et al. 2010 Edit
GEN572 WNT1 Wingless-type MMTV integration site family, member 1 12q13.12 Genetic association
N
2 3 Martin PM , et al. 2013 Edit
GEN265 WNT2 wingless-type MMTV integration site family member 2 7q31.2 Genetic Association
N
15 10 Wassink TH , et al. 2001 Edit
GEN851 WWOX WW domain containing oxidoreductase 16 Rare single gene variant
N
24 8 Leppa VM , et al. 2016 Edit
GEN266 XIRP1 xin actin-binding repeat containing 1 3p22.2 Rare Single Gene variant
N
6 7 O'Roak BJ , et al. 2011 Edit
GEN267 XPC xeroderma pigmentosum, complementation group C 3p25.1 Rare Single Gene variant
N
1 9 Khan SG , et al. 1998 Edit
GEN377 XPO1 Exportin 1 (CRM1 homolog, yeast) 2p15 Genetic association
N
6 5 Liu X , et al. 2011 Edit
GEN397 YEATS2 YEATS domain containing 2 3q27.1 Genetic association
N
1 1 Anney R , et al. 2012 Edit
GEN339 YTHDC2 YTH domain containing 2 5q22.2 Rare Single Gene variant
N
5 5 O'Roak BJ , et al. 2012 Edit
GEN501 YWHAE tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon 17p13.3 Multigenic CNV
N
3 5 Prasad A , et al. 2013 Edit
GEN910 YY1 YY1transcription factor 14q32.2 Functional
N
23 3 Gabriele M , et al. 2017 Edit
GEN401 ZBTB16 Zinc finger and BTB domain containing 16 11q23.2 Genetic association
N
1 1 Anney R , et al. 2012 Edit
GEN619 ZBTB20 Zinc finger and BTB domain containing 20 3q13.31 Multigenic CNV
N
27 18 Cordeddu V , et al. 2014 Edit
GEN875 ZC3H4 zinc finger CCCH-type containing 4 19q13.32 Rare single gene variant
N
4 3 Iossifov I , et al. 2014 Edit
GEN641 ZMYND11 Zinc finger, MYND-type containing 11 10p15.3 Rare single gene variant
N
13 10 Iossifov I , et al. 2012 Edit
GEN352 ZNF18 zinc finger protein 18 17p12 Rare single gene variant
N
Yes 3 1 Chahrour MH , et al. 2012 Edit
GEN854 ZNF292 zinc finger protein 292 6q14.3 Rare single gene variant
N
3 3 Neale BM , et al. 2012 Edit