|
GEN268 |
ABAT |
4-aminobutyrate aminotransferase |
16p13.2 |
Genetic Association |
2 |
|
5 |
|
6 |
Barnby G , et al. 2005 |
Edit |
|
GEN672 |
ACTN4 |
actinin alpha 4 |
19q13.2 |
Rare single gene variant |
2 |
|
4 |
|
5 |
Li J , et al. 2015 |
Edit |
|
GEN002 |
ADA |
adenosine deaminase |
20q13.12 |
Genetic Association |
0 |
|
5 |
|
7 |
Bottini N , et al. 2001 |
Edit |
|
GEN470 |
ADCY5 |
Adenylate cyclase 5 |
3q21.1 |
Rare Single Gene variant |
3 |
|
10 |
|
8 |
O'Roak BJ , et al. 2012 |
Edit |
|
GEN274 |
ADK |
adenosine kinase |
10q22.2 |
Rare Single Gene variant |
|
Yes |
2 |
|
2 |
Najmabadi H , et al. 2011 |
Edit |
|
GEN471 |
ADNP |
Activity-dependent neuroprotector homeobox |
20q13.13 |
Rare Single Gene variant |
5 |
|
131 |
|
56 |
O'Roak BJ , et al. 2012 |
Edit |
|
GEN003 |
ADORA2A |
adenosine A2a receptor |
22q11.23 |
Genetic association |
|
|
2 |
|
7 |
Freitag CM , et al. 2009 |
Edit |
|
GEN004 |
ADRB2 |
adrenergic, beta-2-, receptor, surface |
5q32 |
Genetic Association |
|
|
4 |
|
10 |
Cheslack-Postava K , et al. 2007 |
Edit |
|
GEN005 |
ADSL |
adenylosuccinate lyase |
22q13.1 |
Rare Single Gene variant |
2 |
|
7 |
|
8 |
Sivendran S , et al. 2004 |
Edit |
|
GEN289 |
AFF2 |
AF4/FMR2 family, member 2 |
Xq28 |
Syndromic |
4 |
|
37 |
|
17 |
Abrams MT , et al. 1997 |
Edit |
|
GEN006 |
AFF4 |
AF4/FMR2 family, member 4 |
5q31.1 |
Rare Single Gene variant |
2 |
|
5 |
|
8 |
Sanders SJ , et al. 2012 |
Edit |
|
GEN047 |
AGAP1 |
ArfGAP with GTPase domain, ankyrin repeat and PH domain 1 |
2q37.2 |
Rare Single Gene variant, Genetic Association |
2 |
|
13 |
|
8 |
Wassink TH , et al. 2005 |
Edit |
|
GEN333 |
AGBL4 |
ATP/GTP binding protein-like 4 |
1p33 |
Rare Single Gene variant |
|
|
16 |
|
3 |
Pinto D , et al. 2010 |
Edit |
|
GEN253 |
AGMO |
alkylglycerol monooxygenase |
7p21.2 |
Genetic Association |
2 |
|
9 |
|
7 |
Sebat J , et al. 2007 |
Edit |
|
GEN007 |
AGTR2 |
angiotensin II receptor, type 2 |
Xq23 |
Rare Single Gene variant |
2 |
|
8 |
|
5 |
Vervoort VS , et al. 2002 |
Edit |
|
GEN008 |
AHI1 |
Abelson helper integration site 1 |
6q23.3 |
Rare Single Gene variant |
2 |
|
27 |
|
19 |
Alvarez Retuerto AI , et al. 2008 |
Edit |
|
GEN009 |
ALDH5A1 |
aldehyde dehydrogenase 5 family, member A1 (succinate-semialdehyde dehydrogenase ) |
6p22.3 |
Syndromic |
2 |
Yes |
11 |
|
12 |
Pearl PL , et al. 2003 |
Edit |
|
GEN587 |
ANK2 |
Ankyrin 2, neuronal |
4q25-q26 |
Rare Single Gene variant |
5 |
|
176 |
|
20 |
Iossifov I , et al. 2012 |
Edit |
|
GEN406 |
ANK3 |
ankyrin 3 |
10q21.2 |
Genetic Association |
3 |
|
40 |
|
28 |
Bi C , et al. 2012 |
Edit |
|
GEN011 |
ANKRD11 |
ankyrin repeat domain 11 |
16q24.3 |
Rare Single Gene variant |
4 |
|
112 |
|
55 |
Marshall CR , et al. 2008 |
Edit |
|
GEN609 |
ANXA1 |
Annexin A1 |
9q21.13 |
Rare single gene variant |
2 |
|
12 |
|
2 |
Correia CT , et al. 2014 |
Edit |
|
GEN012 |
APBA2 |
amyloid beta (A4) precursor protein-binding, family A, member 2 |
15q13.1 |
Rare Single Gene variant |
3 |
|
11 |
|
7 |
Babatz TD , et al. 2009 |
Edit |
|
GEN013 |
APC |
adenomatosis polyposis coli |
5q22.2 |
Genetic Association |
|
|
2 |
|
9 |
Barber JC , et al. 1994 |
Edit |
|
GEN655 |
APH1A |
APH1A gamma secretase subunit |
1q21.2 |
Rare single gene variant |
2 |
|
3 |
|
3 |
De Rubeis S , et al. 2014 |
Edit |
|
GEN570 |
APP |
Amyloid beta (A4) precursor protein |
21q21.3 |
Functional |
|
|
0 |
|
3 |
Bailey AR , et al. 2013 |
Edit |
|
GEN014 |
AR |
androgen receptor |
Xq12 |
Genetic Association |
|
|
3 |
|
6 |
Henningsson S , et al. 2009 |
Edit |
|
GEN816 |
ARHGAP32 |
Rho GTPase activating protein 32 |
11q24.3 |
Multigenic CNV |
3 |
|
25 |
|
8 |
Akshoomoff N , et al. 2014 |
Edit |
|
GEN713 |
ARHGAP33 |
Rho GTPase activating protein 33 |
19q13.12 |
Functional |
2 |
|
2 |
|
3 |
Schuster S , et al. 2015 |
Edit |
|
GEN715 |
ARHGEF9 |
Cdc42 guanine nucleotide exchange factor (GEF) 9 |
Xq11.1-q11.2 |
Rare single gene variant |
3 |
|
33 |
|
15 |
Machado CO , et al. 2015 |
Edit |
|
GEN357 |
ARID1B |
AT-rich interaction domain 1B |
6q25.3 |
Rare single gene variant |
5 |
|
164 |
|
63 |
Nord AS , et al. 2011 |
Edit |
|
GEN016 |
ARNT2 |
aryl-hydrocarbon receptor nuclear translocator 2 |
15q25.1 |
Syndromic |
2 |
|
9 |
|
14 |
Chakrabarti B , et al. 2009 |
Edit |
|
GEN017 |
ARX |
aristaless related homeobox |
Xp21.3 |
Rare single gene variant |
3 |
|
45 |
|
22 |
Sherr EH 2003 |
Edit |
|
GEN642 |
ASH1L |
Ash1 (absent, small, or homeotic)-like (Drosophila) |
1q22 |
Rare single gene variant |
5 |
|
135 |
|
25 |
Willsey AJ , et al. 2013 |
Edit |
|
GEN020 |
ASTN2 |
astrotactin 2 |
9q33.1 |
Rare Single Gene variant |
2 |
|
36 |
|
18 |
Glessner JT , et al. 2009 |
Edit |
|
GEN577 |
ASXL3 |
Additional sex combs like 3 (Drosophila) |
18q12.1 |
Syndromic |
5 |
|
90 |
|
36 |
Dinwiddie DL , et al. 2013 |
Edit |
|
GEN021 |
ATP10A |
Probable phospholipid-transporting ATPase VA |
15q12 |
Genetic Association |
3 |
|
11 |
|
9 |
Nurmi EL , et al. 2003 |
Edit |
|
GEN829 |
ATP1A3 |
ATPase Na+/K+ transporting subunit alpha 3 |
19q13.2 |
Syndromic |
3 |
|
36 |
|
20 |
Demos MK , et al. 2014 |
Edit |
|
GEN273 |
ATP2B2 |
ATPase, Ca++ transporting, plasma membrane 2 |
3p25.3 |
Genetic Association |
3 |
|
14 |
|
10 |
Carayol J , et al. 2011 |
Edit |
|
GEN831 |
ATP8A1 |
ATPase phospholipid transporting 8A1 |
4p13 |
Rare single gene variant |
2 |
|
2 |
|
3 |
Kerr DJ , et al. 2016 |
Edit |
|
GEN411 |
ATRNL1 |
Attractin-like 1 |
10q25.3 |
Rare single gene variant |
2 |
|
5 |
|
4 |
Stark Z , et al. 2010 |
Edit |
|
GEN288 |
ATRX |
alpha thalassemia/mental retardation syndrome X-linked |
Xq21.1 |
Syndromic |
3 |
|
39 |
|
26 |
Gibbons R 2006 |
Edit |
|
GEN384 |
ATXN7 |
Ataxin 7 |
3p14.1 |
Rare single gene variant |
|
|
1 |
|
1 |
van Daalen E , et al. 2011 |
Edit |
|
GEN022 |
AUTS2 |
autism susceptibility candidate 2 |
7q11.22 |
Rare Single Gene variant |
4 |
|
101 |
|
51 |
Sultana R , et al. 2002 |
Edit |
|
GEN023 |
AVPR1A |
arginine vasopressin receptor 1A |
12q14.2 |
Rare Single Gene variant, Genetic Association |
0 |
|
37 |
|
24 |
Yirmiya N , et al. 2006 |
Edit |
|
GEN024 |
BAIAP2 |
BAI1-associated protein 2 |
17q25.3 |
Genetic Association |
0 |
|
6 |
|
12 |
Toma C , et al. 2010 |
Edit |
|
GEN423 |
BCKDK |
Branched chain ketoacid dehydrogenase kinase |
16p11.2 |
Rare single gene variant |
2 |
Yes |
9 |
|
6 |
Novarino G , et al. 2012 |
Edit |
|
GEN643 |
BCL11A |
B-cell CLL/lymphoma 11A (zinc finger protein) |
2p16.1 |
Rare single gene variant |
3 |
|
37 |
|
22 |
Iossifov I , et al. 2012 |
Edit |
|
GEN625 |
BDNF |
Brain-derived neurotrophic factor |
11p14.1 |
Functional |
|
|
1 |
|
12 |
Kyzar EJ , et al. 2012 |
Edit |
|
GEN425 |
BIN1 |
bridging integrator 1 |
2q14.3 |
Rare single gene variant |
|
|
4 |
|
3 |
Connolly JJ , et al. 2012 |
Edit |
|
GEN702 |
BIRC6 |
Baculoviral IAP repeat containing 6 |
2p22.3 |
Rare single gene variant |
4 |
|
43 |
|
11 |
Iossifov I , et al. 2012 |
Edit |
|
GEN595 |
BRAF |
v-raf murine sarcoma viral oncogene homolog B |
7q34 |
Syndromic |
3 |
|
42 |
|
13 |
Alfieri P , et al. 2014 |
Edit |
|
GEN337 |
BRCA2 |
breast cancer 2, early onset |
13q13.1 |
Rare Single Gene variant |
2 |
|
7 |
|
5 |
Neale BM , et al. 2012 |
Edit |
|
GEN029 |
C4B |
complement component 4B |
6p21.33 |
Genetic Association |
0 |
|
2 |
|
6 |
Odell D , et al. 2005 |
Edit |
|
GEN030 |
CA6 |
carbonic anhydrase VI |
1p36.23 |
Rare Single Gene variant |
|
|
4 |
|
6 |
Bucan M , et al. 2009 |
Edit |
|
GEN031 |
CACNA1C |
calcium channel, voltage-dependent, L type, alpha 1C subunit |
12p13.33 |
Syndromic |
4 |
|
73 |
|
54 |
Splawski I , et al. 2004 |
Edit |
|
GEN813 |
CACNA1E |
calcium voltage-gated channel subunit alpha1 E |
1q25.3 |
Rare single gene variant |
4 |
|
56 |
|
16 |
O'Roak BJ , et al. 2012 |
Edit |
|
GEN033 |
CACNA1F |
calcium channel, voltage-dependent, alpha 1F |
Xp11.23 |
Genetic Association |
2 |
|
7 |
|
8 |
Strom TM , et al. 1998 |
Edit |
|
GEN034 |
CACNA1G |
calcium channel, voltage-dependent, T type, alpha 1G subunit |
17q21.33 |
Genetic Association |
3 |
|
38 |
|
21 |
Strom SP , et al. 2009 |
Edit |
|
GEN035 |
CACNA1H |
calcium channel, voltage-dependent, alpha 1H subunit |
16p13.3 |
Rare Single Gene variant |
3 |
|
37 |
|
28 |
Splawski I , et al. 2006 |
Edit |
|
GEN612 |
CACNB2 |
Calcium channel, voltage-dependent, beta 2 subunit |
10p12.33-p12.31 |
Genetic association |
3 |
|
8 |
|
7 |
Breitenkamp AF , et al. 2014 |
Edit |
|
GEN036 |
CADM1 |
cell adhesion molecule 1 |
11q23.3 |
Rare Single Gene variant |
2 |
|
6 |
|
10 |
Zhiling Y , et al. 2008 |
Edit |
|
GEN037 |
CADPS2 |
Ca2+-dependent activator protein for secretion 2 |
7q31.32 |
Rare Single Gene variant |
2 |
|
23 |
|
12 |
Cisternas FA , et al. 2003 |
Edit |
|
GEN555 |
CAPRIN1 |
Cell cycle associated protein 1 |
11p13 |
Functional |
2 |
|
2 |
|
4 |
Jiang YH , et al. 2013 |
Edit |
|
GEN621 |
CC2D1A |
Coiled-coil and C2 domain containing 1A |
19p13.12 |
Rare single gene variant |
2 |
Yes |
24 |
|
14 |
Manzini MC , et al. 2014 |
Edit |
|
GEN041 |
CD44 |
CD44 molecule (Indian blood group) |
11p13 |
Functional |
2 |
|
2 |
|
5 |
Hu VW , et al. 2006 |
Edit |
|
GEN657 |
CDC42BPB |
CDC42 binding protein kinase beta (DMPK-like) |
14q32.32 |
Rare single gene variant |
4 |
|
36 |
|
10 |
O'Roak BJ , et al. 2012 |
Edit |
|
GEN042 |
CDH10 |
cadherin 10, type 2 (T2-cadherin) |
5p14.2-p14.1 |
Genetic Association |
2 |
|
17 |
|
10 |
Wang K , et al. 2009 |
Edit |
|
GEN615 |
CDH11 |
cadherin 11 |
16q21 |
Rare Single Gene variant/genetic association |
3 |
|
17 |
|
7 |
Crepel A , et al. 2014 |
Edit |
|
GEN043 |
CDH22 |
cadherin-like 22 |
20q13.12 |
Genetic Association |
|
|
2 |
|
4 |
Wang K , et al. 2009 |
Edit |
|
GEN044 |
CDH8 |
cadherin 8, type 2 |
16q21 |
Rare Single Gene variant |
0 |
|
9 |
|
10 |
Pagnamenta AT , et al. 2010 |
Edit |
|
GEN045 |
CDH9 |
cadherin 9, type 2 (T1-cadherin) |
5p14.1 |
Genetic Association |
2 |
|
14 |
|
7 |
Wang K , et al. 2009 |
Edit |
|
GEN046 |
CDKL5 |
cyclin-dependent kinase-like 5 |
Xp22.13 |
Syndromic |
5 |
Yes |
117 |
|
44 |
Weaving LS , et al. 2004 |
Edit |
|
GEN257 |
CEP41 |
testis specific, 14 |
7q32.2 |
Rare Single Gene variant |
4 |
|
13 |
|
5 |
Korvatska O , et al. 2011 |
Edit |
|
GEN548 |
CHD2 |
Chromodomain helicase DNA binding protein 2 |
15q26.1 |
Syndromic |
5 |
|
150 |
|
60 |
Carvill GL , et al. 2013 |
Edit |
|
GEN280 |
CHD7 |
chromodomain helicase DNA binding protein 7 |
8q12.2 |
Syndromic |
4 |
|
44 |
|
32 |
Vissers LE , et al. 2004 |
Edit |
|
GEN334 |
CHD8 |
chromodomain helicase DNA binding protein 8 |
14q11.2 |
Multigenic CNV |
5 |
|
235 |
|
72 |
O'Roak BJ , et al. 2012 |
Edit |
|
GEN292 |
CHRNA7 |
cholinergic receptor, nicotinic, alpha 7 |
15q13.3 |
Multigenic CNV |
2 |
|
33 |
|
15 |
Mikhail FM , et al. 2011 |
Edit |
|
GEN579 |
CLSTN3 |
Calsyntenin 3 |
12p13.31 |
Functional |
2 |
|
3 |
|
4 |
Pettem KL , et al. 2013 |
Edit |
|
GEN349 |
CLTCL1 |
clathrin, heavy chain-like 1 |
22q11.21 |
Rare single gene variant |
2 |
Yes |
22 |
|
6 |
Chahrour MH , et al. 2012 |
Edit |
|
GEN382 |
CMIP |
c-Maf inducing protein |
16q23.2-q23.3 |
Genetic Association |
0 |
|
20 |
|
6 |
Van der Aa N , et al. 2012 |
Edit |
|
GEN049 |
CNR1 |
cannabinoid receptor 1 (brain) |
6q15 |
Genetic Association |
2 |
|
33 |
|
7 |
Chakrabarti B , et al. 2006 |
Edit |
|
GEN050 |
CNTN4 |
contactin 4 |
3p26.3-p26.2 |
Syndromic |
2 |
|
23 |
|
25 |
Roohi J , et al. 2008 |
Edit |
|
GEN386 |
CNTN6 |
Contactin 6 |
3p26.3 |
Rare single gene variant |
4 |
|
62 |
|
14 |
van Daalen E , et al. 2011 |
Edit |
|
GEN051 |
CNTNAP2 |
contactin associated protein-like 2 |
7q35-q36.1 |
Syndromic |
4 |
|
144 |
|
79 |
Arking DE , et al. 2008 |
Edit |
|
GEN616 |
CNTNAP4 |
Contactin associated protein-like 4 |
16q23.1 |
Rare Single Gene variant |
3 |
|
26 |
|
13 |
Karayannis T , et al. 2014 |
Edit |
|
GEN052 |
CNTNAP5 |
contactin associated protein-like 5 |
2q14.3 |
Genetic Association |
3 |
|
19 |
|
13 |
Pagnamenta AT , et al. 2010 |
Edit |
|
GEN285 |
CREBBP |
CREB binding protein |
16p13.3 |
Syndromic |
3 |
|
107 |
|
33 |
Barnby G , et al. 2005 |
Edit |
|
GEN330 |
CSNK1D |
casein kinase 1, delta |
17q25.3 |
Rare Single Gene variant |
2 |
|
3 |
|
2 |
Pinto D , et al. 2010 |
Edit |
|
GEN549 |
CTCF |
CCCTC-binding factor |
16q22.1 |
Functional |
4 |
|
76 |
|
20 |
Ishihara K , et al. 2006 |
Edit |
|
GEN053 |
CTNNA3 |
catenin (cadherin-associated protein), alpha 3 |
10q21.3 |
Genetic Association |
2 |
Yes |
58 |
|
16 |
Wang K , et al. 2009 |
Edit |
|
GEN472 |
CTNNB1 |
catenin beta 1 |
3p22.1 |
Rare Single Gene variant |
4 |
|
72 |
|
27 |
O'Roak BJ , et al. 2012 |
Edit |
|
GEN711 |
CTNND2 |
Catenin (cadherin-associated protein), delta 2 |
5p15.2 |
Rare single gene variant |
3 |
|
22 |
|
9 |
Turner TN , et al. 2015 |
Edit |
|
GEN054 |
CTTNBP2 |
cortactin binding protein 2 |
7q31.31 |
Rare Single Gene variant |
3 |
|
41 |
|
11 |
Cheung J , et al. 2001 |
Edit |
|
GEN409 |
CUL3 |
Cullin 3 |
2q36.2 |
Rare single gene variant |
4 |
|
48 |
|
26 |
O'Roak BJ , et al. 2012 |
Edit |
|
GEN056 |
CYP11B1 |
cytochrome P450, family 11, subfamily B, polypeptide 1 |
8q24.3 |
Syndromic |
|
|
2 |
|
4 |
Chakrabarti B , et al. 2009 |
Edit |
|
GEN058 |
DAPK1 |
death-associated protein kinase 1 |
9q21.33 |
Functional |
2 |
|
6 |
|
6 |
Hu VW , et al. 2006 |
Edit |
|
GEN060 |
DCUN1D1 |
DCN1, defective in cullin neddylation 1, domain containing 1 (S. cerevisiae) |
3q26.33 |
Functional |
|
|
0 |
|
3 |
Mas C , et al. 2000 |
Edit |
|
GEN061 |
DCX |
doublecortin |
Xq23 |
Rare Single Gene variant |
0 |
|
12 |
|
12 |
Vourc'h P , et al. 2002 |
Edit |
|
GEN332 |
DDX53 |
DEAD (Asp-Glu-Ala-Asp) box polypeptide 53 |
Xp22.11 |
Rare Single Gene variant |
|
|
7 |
|
3 |
Pinto D , et al. 2010 |
Edit |
|
GEN610 |
DEAF1 |
DEAF1 transcription factor |
11p15.5 |
Rare single gene variant |
5 |
|
65 |
|
21 |
Vulto-van Silfhout AT , et al. 2014 |
Edit |
|
GEN825 |
DENR |
density-regulated protein |
12q24.31 |
Rare single gene variant |
3 |
|
3 |
|
4 |
Neale BM , et al. 2012 |
Edit |
|
GEN675 |
DGKZ |
diacylglycerol kinase zeta |
11p11.2 |
Rare single gene variant |
0 |
|
2 |
|
2 |
Li J , et al. 2015 |
Edit |
|
GEN063 |
DHCR7 |
7-dehydrocholesterol reductase |
11q13.4 |
Syndromic |
2 |
|
35 |
|
18 |
Tierney E , et al. 2001 |
Edit |
|
GEN644 |
DIP2A |
DIP2 disco-interacting protein 2 homolog A (Drosophila) |
21q22.3 |
Rare single gene variant |
3 |
|
14 |
|
10 |
Iossifov I , et al. 2012 |
Edit |
|
GEN065 |
DISC1 |
disrupted in schizophrenia 1 |
1q42.2 |
Syndromic |
2 |
|
31 |
|
34 |
Kilpinen H , et al. 2007 |
Edit |
|
GEN676 |
DLG1 |
discs large MAGUK scaffold protein 1 |
3q29 |
Rare single gene variant |
3 |
|
11 |
|
5 |
Li J , et al. 2015 |
Edit |
|
GEN412 |
DLG4 |
discs large MAGUK scaffold protein 4 |
17p13.1 |
Functional |
5 |
|
74 |
|
16 |
Feyder M , et al. 2010 |
Edit |
|
GEN066 |
DLGAP2 |
discs, large (Drosophila) homolog-associated protein 2 |
8p23.3 |
Rare Single Gene variant |
3 |
|
29 |
|
16 |
Marshall CR , et al. 2008 |
Edit |
|
GEN067 |
DLX1 |
distal-less homeobox 1 |
2q31.1 |
Genetic Association |
2 |
|
5 |
|
9 |
Liu X , et al. 2008 |
Edit |
|
GEN068 |
DLX2 |
distal-less homeobox 2 |
2q31.1 |
Genetic Association |
|
|
2 |
|
11 |
Liu X , et al. 2008 |
Edit |
|
GEN069 |
DLX6 |
distal-less homeobox 6 |
7q21.3 |
Rare Single Gene variant |
2 |
|
2 |
|
9 |
Nakashima N , et al. 2009 |
Edit |
|
GEN070 |
DMD |
dystrophin (muscular dystrophy, Duchenne and Becker types) |
Xp21.2-p21.1 |
Syndromic |
3 |
|
40 |
|
40 |
Wu JY , et al. 2006 |
Edit |
|
GEN071 |
DMPK |
dystrophia myotonica-protein kinase |
19q13.32 |
Syndromic |
2 |
|
12 |
|
10 |
Ekstrm AB , et al. 2008 |
Edit |
|
GEN736 |
DMXL2 |
Dmx-like 2 |
15q21.2 |
Rare single gene variant |
3 |
|
7 |
|
7 |
Iossifov I et al. 2014 |
Edit |
|
GEN427 |
DNM1L |
Dynamin 1-like |
12p11.21 |
Functional |
2 |
|
8 |
|
8 |
Anitha A , et al. 2012 |
Edit |
|
GEN603 |
DOCK4 |
Dedicator of cytokinesis 4 |
7q31.1 |
Genetic association/multigenic CNV |
2 |
|
9 |
|
9 |
Maestrini E , et al. 2009 |
Edit |
|
GEN072 |
DPP10 |
Dipeptidyl-peptidase 10 |
2q14.1 |
Rare Single Gene variant |
0 |
|
13 |
|
11 |
Marshall CR , et al. 2008 |
Edit |
|
GEN073 |
DPP6 |
dipeptidyl-peptidase 6 |
7q36.2 |
Genetic Association |
3 |
|
25 |
|
25 |
Marshall CR , et al. 2008 |
Edit |
|
GEN074 |
DPYD |
dihydropyrimidine dehydrogenase |
1p21.3 |
Rare Single Gene variant |
2 |
|
28 |
|
13 |
Marshall CR , et al. 2008 |
Edit |
|
GEN576 |
DRD1 |
Dopamine receptor D1 |
5q35.2 |
Genetic association |
|
|
4 |
|
4 |
Hettinger JA , et al. 2008 |
Edit |
|
GEN358 |
DRD2 |
Dopamine receptor D2 |
11q23.2 |
Rare single gene variant |
0 |
|
8 |
|
6 |
Hettinger JA , et al. 2012 |
Edit |
|
GEN075 |
DRD3 |
dopamine receptor D3 |
3q13.31 |
Genetic Association |
0 |
|
4 |
|
8 |
de Krom M , et al. 2008 |
Edit |
|
GEN645 |
DSCAM |
Down syndrome cell adhesion molecule |
21q22.2 |
Rare single gene variant |
5 |
|
98 |
|
14 |
Iossifov I et al. 2014 |
Edit |
|
GEN836 |
DUSP15 |
dual specificity phosphatase 15 |
20q11.21 |
Rare single gene variant |
2 |
|
8 |
|
5 |
Tian Y , et al. 2016 |
Edit |
|
GEN796 |
DVL1 |
Dishevelled segment polarity protein 1 |
1p36.33 |
Functional |
|
|
0 |
|
3 |
Lijam N , et al. 1997 |
Edit |
|
GEN797 |
DVL3 |
Dishevelled segment polarity protein 3 |
3q27.1 |
Rare single gene variant |
2 |
|
2 |
|
4 |
Dong S , et al. 2014 |
Edit |
|
GEN516 |
DYDC1 |
DPY30 domain containing 1 |
10q23.1 |
Multigenic CNV |
2 |
|
8 |
|
2 |
Girirajan S , et al. 2013 |
Edit |
|
GEN367 |
DYRK1A |
Dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A |
21q22.13 |
Syndromic |
5 |
|
238 |
|
57 |
O'Roak BJ , et al. 2012 |
Edit |
|
GEN344 |
EHMT1 |
Euchromatic histone-lysine N-methyltransferase 1 |
9q34.3 |
Syndromic |
3 |
|
39 |
|
31 |
Talkowski ME , et al. 2012 |
Edit |
|
GEN077 |
EIF4E |
eukaryotic translation initiation factor 4E |
4q23 |
Rare single gene variant |
2 |
|
8 |
|
12 |
Neves-Pereira M , et al. 2009 |
Edit |
|
GEN479 |
EIF4EBP2 |
Eukaryotic translation initiation factor 4E binding protein 2 |
10q22.1 |
Functional |
|
|
0 |
|
1 |
Gkogkas CG , et al. 2012 |
Edit |
|
GEN826 |
ELAVL2 |
ELAV like neuron-specific RNA binding protein 2 |
9p21.3 |
Rare single gene variant |
2 |
|
6 |
|
6 |
Iossifov I et al. 2014 |
Edit |
|
GEN282 |
EML1 |
echinoderm microtubule associated protein like 1 |
14q32.2 |
Rare Single Gene variant |
2 |
|
7 |
|
3 |
Schaaf CP , et al. 2011 |
Edit |
|
GEN078 |
EN2 |
engrailed homolog 2 |
7q36.3 |
Genetic Association |
2 |
|
12 |
|
25 |
Gharani N , et al. 2004 |
Edit |
|
GEN308 |
EP300 |
E1A binding protein p300 |
22q13.2 |
Syndromic |
3 |
|
34 |
|
19 |
Vaags AK , et al. 2012 |
Edit |
|
GEN353 |
EP400 |
E1A binding protein p400 |
12q24.33 |
Rare single gene variant |
4 |
Yes |
54 |
|
7 |
Chahrour MH , et al. 2012 |
Edit |
|
GEN365 |
EPC2 |
Enhancer of polycomb homolog 2 (Drosophila) |
2q23.1 |
Rare single gene variant |
|
|
4 |
|
5 |
Jaillard S , et al. 2008 |
Edit |
|
GEN410 |
EPHB2 |
EPH receptor B2 |
1p36.12 |
Rare single gene variant |
4 |
|
57 |
|
7 |
Sanders SJ , et al. 2012 |
Edit |
|
GEN081 |
ERBB4 |
v-erb-a erythroblastic leukemia viral oncogene homolog 4 (avian) |
2q34 |
Rare Single Gene variant |
2 |
|
13 |
|
16 |
Pinto D , et al. 2010 |
Edit |
|
GEN404 |
ERG |
ERG, ETS transcription factor |
21q22.2 |
Genetic association |
|
|
1 |
|
1 |
Anney R , et al. 2012 |
Edit |
|
GEN838 |
ERMN |
ermin |
2q24.1 |
Rare single gene variant |
3 |
|
8 |
|
1 |
Homs A , et al. 2016 |
Edit |
|
GEN082 |
ESR1 |
estrogen receptor 1 |
6q25.1-q25.2 |
Syndromic |
|
|
4 |
|
10 |
Chakrabarti B , et al. 2009 |
Edit |
|
GEN083 |
ESR2 |
estrogen receptor 2 (ER beta) |
14q23.2-q23.3 |
Syndromic |
0 |
|
5 |
|
9 |
Chakrabarti B , et al. 2009 |
Edit |
|
GEN680 |
EXOC5 |
exocyst complex component 5 |
14q22.3 |
Rare single gene variant |
2 |
|
2 |
|
2 |
Li J , et al. 2015 |
Edit |
|
GEN681 |
EXOC6 |
exocyst complex component 6 |
10q23.33 |
Rare single gene variant |
0 |
|
6 |
|
2 |
Li J , et al. 2015 |
Edit |
|
GEN361 |
EXT1 |
Exostosin 1 |
8q24.11 |
Rare single gene variant |
2 |
|
5 |
|
6 |
Li H , et al. 2002 |
Edit |
|
GEN086 |
FABP5 |
fatty acid binding protein 5 (psoriasis-associated) |
8q21.13 |
Rare Single Gene variant, Genetic Association |
0 |
|
4 |
|
7 |
Maekawa M , et al. 2010 |
Edit |
|
GEN087 |
FABP7 |
fatty acid binding protein 7, brain |
6q22.31 |
Genetic Association |
0 |
|
10 |
|
7 |
Maekawa M , et al. 2010 |
Edit |
|
GEN589 |
FAN1 |
FANCD2/FANCI-associated nuclease 1 |
15q13.3 |
Rare single gene variant |
2 |
|
4 |
|
3 |
Ionita-Laza I , et al. 2013 |
Edit |
|
GEN338 |
FAT1 |
FAT atypical cadherin 1 |
4q35.2 |
Rare Single Gene variant |
3 |
|
10 |
|
8 |
Neale BM , et al. 2012 |
Edit |
|
GEN088 |
FBXO33 |
F-box protein 33 |
14q21.1 |
Genetic Association |
0 |
|
3 |
|
4 |
Wang K , et al. 2009 |
Edit |
|
GEN089 |
FBXO40 |
F-box protein 40 |
3q13.33 |
Genetic Association |
2 |
|
3 |
|
4 |
Glessner JT , et al. 2009 |
Edit |
|
GEN090 |
FEZF2 |
FEZ family zinc finger 2 |
3p14.2 |
Genetic Association |
2 |
|
5 |
|
9 |
Wang K , et al. 2009 |
Edit |
|
GEN091 |
FHIT |
fragile histidine triad gene |
3p14.2 |
Genetic Association |
0 |
|
19 |
|
12 |
Sebat J , et al. 2007 |
Edit |
|
GEN093 |
FMR1 |
fragile X mental retardation 1 |
Xq27.3 |
Functional |
3 |
|
41 |
|
44 |
Rogers SJ , et al. 2002 |
Edit |
|
GEN094 |
FOXG1 |
Forkhead box G1 |
14q12 |
Syndromic |
3 |
|
77 |
|
46 |
Kortm F , et al. 2011 |
Edit |
|
GEN095 |
FOXP1 |
forkhead box P1 |
3p13 |
Rare Single Gene variant |
5 |
|
166 |
|
59 |
O'Roak BJ , et al. 2011 |
Edit |
|
GEN096 |
FOXP2 |
forkhead box P2 |
7q31.1 |
Rare single gene variant |
3 |
|
87 |
|
48 |
Gong X , et al. 2004 |
Edit |
|
GEN097 |
FRK |
fyn-related kinase |
6q22.1 |
Genetic Association |
2 |
|
3 |
|
3 |
Wang K , et al. 2009 |
Edit |
|
GEN624 |
GABRA1 |
Gamma-aminobutyric acid (GABA) A receptor, alpha 1 |
5q34 |
Functional |
2 |
|
6 |
|
9 |
Fatemi SH , et al. 2008 |
Edit |
|
GEN099 |
GABRA4 |
gamma-aminobutyric acid (GABA) A receptor, alpha 4 |
4p12 |
Genetic Association |
2 |
|
10 |
|
8 |
Ma DQ , et al. 2005 |
Edit |
|
GEN100 |
GABRB1 |
gamma-aminobutyric acid (GABA) A receptor, beta 1 |
4p12 |
Genetic Association |
2 |
|
6 |
|
6 |
Ma DQ , et al. 2005 |
Edit |
|
GEN101 |
GABRB3 |
gamma-aminobutyric acid (GABA) A receptor, beta 3 |
15q12 |
Genetic Association |
4 |
Yes |
111 |
|
41 |
Cook EH Jr , et al. 1998 |
Edit |
|
GEN480 |
GABRQ |
Gamma-aminobutyric acid (GABA) A receptor, theta |
Xq28 |
Rare Single Gene variant |
2 |
|
3 |
|
3 |
Piton A , et al. 2012 |
Edit |
|
GEN742 |
GADD45B |
Growth arrest and DNA-damage-inducible, beta |
19p13.3 |
Functional |
2 |
|
1 |
|
4 |
Garbett K , et al. 2008 |
Edit |
|
GEN102 |
GALNT13 |
polypeptide N-acetylgalactosaminyltransferase 13 |
2q23.3-q24.1 |
Rare Single Gene variant |
|
|
5 |
|
4 |
Bucan M , et al. 2009 |
Edit |
|
GEN414 |
GAP43 |
Growth associated protein 43 |
3q13.31 |
Functional |
|
|
0 |
|
1 |
Zaccaria KJ , et al. 2010 |
Edit |
|
GEN646 |
GIGYF1 |
GRB10 interacting GYF protein 1 |
7q22.1 |
Rare single gene variant |
4 |
|
17 |
|
13 |
Iossifov I et al. 2014 |
Edit |
|
GEN103 |
GLO1 |
glyoxalase I |
6p21.2 |
Genetic Association |
2 |
|
7 |
|
10 |
Junaid MA , et al. 2004 |
Edit |
|
GEN105 |
GNAS |
GNAS complex locus |
20q13.32 |
Rare Single Gene variant, Genetic Association |
2 |
|
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 |
2 |
|
7 |
|
2 |
Chen YZ , et al. 2011 |
Edit |
|
GEN505 |
GPHN |
Gephyrin |
14q23.3 |
Rare single gene variant |
0 |
|
13 |
|
8 |
Prasad A , et al. 2013 |
Edit |
|
GEN489 |
GPR37 |
G protein-coupled receptor 37 |
7q31.33 |
Rare single gene variant |
2 |
|
9 |
|
2 |
Fujita-Jimbo E , et al. 2012 |
Edit |
|
GEN108 |
GPX1 |
glutathione peroxidase 1 |
3p21.31 |
Genetic Association |
|
|
1 |
|
5 |
Ming X , et al. 2009 |
Edit |
|
GEN283 |
GRID2 |
glutamate receptor, ionotropic, delta 2 |
4q22.1-q22.2 |
Rare Single Gene variant |
2 |
|
25 |
|
11 |
Schaaf CP , et al. 2011 |
Edit |
|
GEN109 |
GRIK2 |
glutamate ionotropic receptor kainate type subunit 2 |
6q16.3 |
Genetic Association |
3 |
|
34 |
|
21 |
Jamain S , et al. 2002 |
Edit |
|
GEN626 |
GRIN1 |
Glutamate receptor, ionotropic, N-methyl D-aspartate 1 |
9q34.3 |
Functional |
3 |
Yes |
63 |
|
19 |
Gandal MJ , et al. 2012 |
Edit |
|
GEN110 |
GRIN2A |
glutamate receptor, ionotropic, N-methyl D-aspartate 2A |
16p13.2 |
Genetic Association |
3 |
|
198 |
|
49 |
Barnby G , et al. 2005 |
Edit |
|
GEN111 |
GRIN2B |
glutamate receptor, inotropic, N-methyl D-apartate 2B |
12p13.1 |
Genetic Association |
5 |
|
214 |
|
67 |
O'Roak BJ , et al. 2011 |
Edit |
|
GEN112 |
GRIP1 |
glutamate receptor interacting protein 1 |
12q14.3 |
Rare Single Gene variant, Genetic Association |
3 |
|
12 |
|
13 |
Mejias R , et al. 2011 |
Edit |
|
GEN355 |
GRM5 |
glutamate metabotropic receptor 5 |
11q14.2-q14.3 |
Rare single gene variant |
3 |
|
22 |
|
8 |
Iossifov I , et al. 2012 |
Edit |
|
GEN114 |
GRPR |
Gastrin-releasing peptide receptor |
Xp22.2 |
Genetic Association |
2 |
|
6 |
|
8 |
Ishikawa-Brush Y , et al. 1997 |
Edit |
|
GEN416 |
GSK3B |
Glycogen synthase kinase 3 beta |
3q13.33 |
Functional |
2 |
|
1 |
|
4 |
Mines MA , et al. 2010 |
Edit |
|
GEN115 |
GSTM1 |
glutathione S-transferase M1 |
1p13.3 |
Genetic Association |
|
|
1 |
|
3 |
Buyske S , et al. 2006 |
Edit |
|
GEN116 |
GTF2I |
general transcription factor IIi |
7q11.23 |
Rare Single Gene variant |
2 |
|
3 |
|
6 |
Malenfant P , et al. 2011 |
Edit |
|
GEN430 |
HCFC1 |
host cell factor C1 |
Xq28 |
Syndromic |
0 |
|
20 |
|
10 |
Huang L , et al. 2012 |
Edit |
|
GEN611 |
HCN1 |
Hyperpolarization activated cyclic nucleotide-gated potassium channel 1 |
5p12 |
Rare single gene variant |
2 |
|
46 |
|
10 |
Nava C , et al. 2014 |
Edit |
|
GEN117 |
HDAC4 |
histone deacetylase 4 |
2q37.3 |
Syndromic |
2 |
|
12 |
|
16 |
Williams SR , et al. 2010 |
Edit |
|
GEN482 |
HDAC6 |
histone deacetylase 6 |
Xp11.23 |
Rare Single Gene variant |
2 |
|
1 |
|
6 |
Piton A , et al. 2012 |
Edit |
|
GEN118 |
HEPACAM |
hepatic and glial cell adhesion molecule |
11q24.2 |
Syndromic |
3 |
|
33 |
|
11 |
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 |
2 |
Yes |
9 |
|
8 |
Puffenberger EG , et al. 2012 |
Edit |
|
GEN119 |
HLA-A |
major histocompatibility complex, class I, A |
6p22.1 |
Genetic Association |
|
|
7 |
|
10 |
Torres AR , et al. 2006 |
Edit |
|
GEN303 |
HMGN1 |
high mobility group nucleosome binding domain 1 |
21q22.2 |
Genetic Association |
|
|
11 |
|
1 |
Abuhatzira L , et al. 2011 |
Edit |
|
GEN356 |
HOMER1 |
Homer homolog 1 (Drosophila) |
5q14.1 |
Rare single gene variant |
3 |
|
8 |
|
6 |
Kelleher RJ 3rd , et al. 2012 |
Edit |
|
GEN122 |
HOXA1 |
homeobox A1 |
7p15.2 |
Genetic Association |
3 |
|
21 |
|
15 |
Ingram JL , et al. 2000 |
Edit |
|
GEN123 |
HOXB1 |
homeobox B1 |
17q21.32 |
Genetic Association |
|
|
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 |
2 |
|
18 |
|
12 |
Hrault J , et al. 1993 |
Edit |
|
GEN125 |
HS3ST5 |
heparan sulfate (glucosamine) 3-O-sulfotransferase 5 |
6q21-q22.1 |
Genetic Association |
|
|
4 |
|
7 |
Wang K , et al. 2009 |
Edit |
|
GEN126 |
HSD11B1 |
hydroxysteroid (11-beta) dehydrogenase 1 |
1q32.2 |
Syndromic |
0 |
|
2 |
|
9 |
Chakrabarti B , et al. 2009 |
Edit |
|
GEN127 |
HTR1B |
5-hydroxytryptamine (serotonin) receptor 1B |
6q14.1 |
Genetic Association |
0 |
|
2 |
|
6 |
Orabona GM , et al. 2008 |
Edit |
|
GEN128 |
HTR2A |
5-hydroxytryptamine (serotonin) receptor 2A |
13q14.2 |
Genetic Association |
2 |
|
12 |
|
10 |
Veenstra-VanderWeele J , et al. 2002 |
Edit |
|
GEN130 |
HTR3C |
5-hydroxytryptamine (serotonin) receptor 3, family member C |
3q27.1 |
Genetic Association |
0 |
|
8 |
|
6 |
Rehnstrm K , et al. 2008 |
Edit |
|
GEN432 |
HUWE1 |
HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase |
Xp11.22 |
Syndromic |
3 |
|
45 |
|
22 |
Nava C , et al. 2012 |
Edit |
|
GEN296 |
ICA1 |
islet cell autoantigen 1 |
7p21.3 |
Rare single gene variant |
2 |
|
14 |
|
9 |
Salyakina D , et al. 2011 |
Edit |
|
GEN133 |
IL1RAPL1 |
interleukin 1 receptor accessory protein-like 1 |
Xp21.3-p21.2 |
Rare single gene variant |
3 |
|
30 |
|
24 |
Bhat SS , et al. 2007 |
Edit |
|
GEN302 |
IL1RAPL2 |
interleukin 1 receptor accessory protein-like 2 |
Xq22.3 |
Genetic Association |
|
|
4 |
|
2 |
Chung RH , et al. 2011 |
Edit |
|
GEN134 |
IMMP2L |
IMP2 inner mitochondrial membrane peptidase-like (S. cerevisiae) |
7q31.1 |
Rare single gene variant |
|
|
26 |
|
14 |
Petek E , et al. 2001 |
Edit |
|
GEN135 |
INPP1 |
inositol polyphosphate-1-phosphatase |
2q32.2 |
Genetic Association |
2 |
|
3 |
|
4 |
Serajee FJ , et al. 2003 |
Edit |
|
GEN137 |
ITGB3 |
integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61) |
17q21.32 |
Genetic association |
2 |
|
12 |
|
17 |
Weiss LA , et al. 2006 |
Edit |
|
GEN790 |
JAKMIP1 |
Janus kinase and microtubule interacting protein 1 |
4p16.1 |
Functional |
2 |
|
6 |
|
9 |
Berg JM , et al. 2015 |
Edit |
|
GEN139 |
JMJD1C |
jumonji domain containing 1C |
10q21.3 |
Rare single gene variant |
3 |
|
18 |
|
9 |
Castermans D , et al. 2007 |
Edit |
|
GEN764 |
KAT2B |
K(lysine) acetyltransferase 2B |
3p24.3 |
Rare single gene variant |
3 |
|
8 |
|
8 |
Sanders SJ , et al. 2015 |
Edit |
|
GEN369 |
KATNAL2 |
Katanin p60 subunit A-like 2 |
18q21.1 |
Rare Single Gene variant |
4 |
|
55 |
|
13 |
Sanders SJ , et al. 2012 |
Edit |
|
GEN433 |
KCND2 |
potassium voltage-gated channel subfamily D member 2 |
7q31.31 |
Rare single gene variant |
3 |
|
14 |
|
7 |
Connolly JJ , et al. 2012 |
Edit |
|
GEN140 |
KCNJ10 |
potassium voltage-gated channel subfamily J member 10 |
1q23.2 |
Genetic Association |
3 |
|
14 |
|
11 |
Sicca F , et al. 2011 |
Edit |
|
GEN141 |
KCNMA1 |
potassium large conductance calcium-activated channel, subfamily M, alpha member 1 |
10q22.3 |
Rare single gene variant |
3 |
|
30 |
|
27 |
Laumonnier F , et al. 2006 |
Edit |
|
GEN553 |
KCNQ2 |
potassium voltage-gated channel subfamily Q member 2 |
20q13.33 |
Genetic association |
3 |
|
70 |
|
34 |
Jiang YH , et al. 2013 |
Edit |
|
GEN536 |
KCNQ3 |
potassium voltage-gated channel subfamily Q member 3 |
8q24.22 |
Genetic association |
4 |
|
49 |
|
16 |
Gilling M , et al. 2013 |
Edit |
|
GEN434 |
KCNT1 |
potassium sodium-activated channel subfamily T member 1 |
9q34.3 |
Rare single gene variant |
0 |
|
30 |
|
16 |
Heron SE , et al. 2012 |
Edit |
|
GEN363 |
KCTD13 |
Potassium channel tetramerisation domain containing 13 |
16p11.2 |
Rare single gene variant |
0 |
|
4 |
|
8 |
Golzio C , et al. 2012 |
Edit |
|
GEN647 |
KDM5B |
Lysine (K)-specific demethylase 5B |
1q32.1 |
Rare single gene variant |
4 |
|
51 |
|
18 |
Iossifov I et al. 2014 |
Edit |
|
GEN435 |
KDM5C |
lysine demethylase 5C |
Xp11.22 |
Syndromic |
3 |
|
49 |
|
29 |
Adegbola A , et al. 2008 |
Edit |
|
GEN648 |
KDM6B |
Lysine (K)-specific demethylase 6B |
17p13.1 |
Rare single gene variant |
4 |
|
44 |
|
13 |
Iossifov I , et al. 2012 |
Edit |
|
GEN294 |
KHDRBS2 |
KH domain containing, RNA binding, signal transduction associated 2 |
6q11.1 |
Rare Single Gene variant |
2 |
|
6 |
|
4 |
Salyakina D , et al. 2011 |
Edit |
|
GEN834 |
KHDRBS3 |
KH RNA binding domain containing, signal transduction associated 3 |
8q24.23 |
Functional |
|
|
0 |
|
2 |
Traunmller L , et al. 2014 |
Edit |
|
GEN142 |
KIAA1586 |
KIAA1586 |
6p12.1 |
Rare Single Gene variant |
2 |
|
16 |
|
4 |
Bucan M , et al. 2009 |
Edit |
|
GEN389 |
KIF5C |
Kinesin family member 5C |
2q23.1-q23.2 |
Rare single gene variant |
3 |
|
30 |
|
11 |
Awadalla P , et al. 2010 |
Edit |
|
GEN388 |
KLC2 |
Kinesin light chain 2 |
11q13.2 |
Rare single gene variant |
2 |
|
2 |
|
2 |
Awadalla P , et al. 2010 |
Edit |
|
GEN700 |
KMT2A |
Lysine (K)-specific methyltransferase 2A |
11q23.3 |
Syndromic |
5 |
|
180 |
|
36 |
De Rubeis S , et al. 2014 |
Edit |
|
GEN659 |
KMT2C |
Lysine (K)-specific methyltransferase 2C |
7q36.1 |
Rare single gene variant |
4 |
|
61 |
|
23 |
O'Roak BJ , et al. 2012 |
Edit |
|
GEN636 |
KMT2E |
Lysine (K)-specific methyltransferase 2E |
7q22.3 |
Rare single gene variant |
4 |
|
89 |
|
14 |
Dong S , et al. 2014 |
Edit |
|
GEN586 |
KPTN |
kaptin, actin binding protein |
19q13.32 |
Syndromic |
2 |
|
13 |
|
6 |
Baple EL , et al. 2013 |
Edit |
|
GEN143 |
LAMB1 |
laminin, beta 1 |
7q31.1 |
Genetic Association |
3 |
|
9 |
|
7 |
Hutcheson HB , et al. 2004 |
Edit |
|
GEN496 |
LEP |
Leptin |
7q32.1 |
Rare single gene variant |
|
|
2 |
|
1 |
Prasad A , et al. 2013 |
Edit |
|
GEN272 |
LMX1B |
LIM homeobox transcription factor 1 beta |
9q33.3 |
Genetic association/Functional |
|
|
2 |
|
1 |
Thanseem I , et al. 2011 |
Edit |
|
GEN145 |
LRFN5 |
leucine rich repeat and fibronectin type III domain containing 5 |
14q21.1 |
Genetic Association |
2 |
|
7 |
|
7 |
Wang K , et al. 2009 |
Edit |
|
GEN362 |
LRP2 |
LDL receptor related protein 2 |
2q31.1 |
Rare single gene variant |
4 |
|
53 |
|
16 |
Ionita-Laza I , et al. 2012 |
Edit |
|
GEN436 |
LRPPRC |
leucine rich pentatricopeptide repeat containing |
2p21 |
Functional |
0 |
|
2 |
|
3 |
Anitha A , et al. 2012 |
Edit |
|
GEN146 |
LRRC1 |
leucine rich repeat containing 1 |
6p12.1 |
Genetic Association |
2 |
|
5 |
|
6 |
Wang K , et al. 2009 |
Edit |
|
GEN147 |
LZTS2 |
leucine zipper, putative tumor suppressor 2 |
10q24.31 |
Genetic Association |
|
|
2 |
|
4 |
Wang K , et al. 2009 |
Edit |
|
GEN148 |
MACROD2 |
MACRO domain containing 2 |
20p12.1 |
Genetic Association |
0 |
|
17 |
|
21 |
Anney R , et al. 2010 |
Edit |
|
GEN405 |
MAGED1 |
MAGE family member D1 |
Xp11.22 |
Functional |
0 |
|
1 |
|
2 |
Dombret C , et al. 2012 |
Edit |
|
GEN578 |
MAGEL2 |
MAGE-like 2 |
15q11.2 |
Syndromic |
4 |
|
53 |
|
21 |
Schaaf CP , et al. 2013 |
Edit |
|
GEN149 |
MAOA |
monoamine oxidase A |
Xp11.3 |
Genetic Association |
2 |
|
15 |
|
17 |
Cohen IL , et al. 2003 |
Edit |
|
GEN150 |
MAP2 |
microtubule-associated protein 2 |
2q34 |
Rare Single Gene variant |
|
|
1 |
|
5 |
Mukaetova-Ladinska EB , et al. 2004 |
Edit |
|
GEN418 |
MAPK1 |
Mitogen-activated protein kinase 1 |
22q11.22 |
Functional |
2 |
|
8 |
|
3 |
Satoh Y , et al. 2011 |
Edit |
|
GEN691 |
MAPK12 |
mitogen-activated protein kinase 12 |
22q13.33 |
Rare single gene variant |
0 |
|
1 |
|
1 |
Li J , et al. 2015 |
Edit |
|
GEN284 |
MAPK3 |
mitogen-activated protein kinase 3 |
16p11.2 |
Rare Single Gene variant |
3 |
|
13 |
|
6 |
Schaaf CP , et al. 2011 |
Edit |
|
GEN419 |
MAPK8IP2 |
Mitogen-activated protein kinase 8 interacting protein 2 |
22q13.33 |
Functional |
|
|
0 |
|
1 |
Giza J , et al. 2010 |
Edit |
|
GEN151 |
MARK1 |
microtubule affinity regulating kinase 1 |
1q41 |
Genetic association/Functional |
0 |
|
12 |
|
10 |
Maussion G , et al. 2008 |
Edit |
|
GEN152 |
MBD1 |
methyl-CpG binding domain protein 1 |
18q21.1 |
Rare Single Gene variant |
2 |
|
12 |
|
7 |
Li H , et al. 2005 |
Edit |
|
GEN153 |
MBD3 |
methyl-CpG binding domain protein 3 |
19p13.3 |
Rare Single Gene variant, Genetic Association |
2 |
|
18 |
|
4 |
Cukier HN , et al. 2009 |
Edit |
|
GEN154 |
MBD4 |
methyl-CpG binding domain protein 4 |
3q21.3 |
Rare Single Gene variant, Genetic Association |
2 |
|
12 |
|
7 |
Cukier HN , et al. 2009 |
Edit |
|
GEN345 |
MBD5 |
Methyl-CpG binding domain protein 5 |
2q23.1 |
Rare single gene variant |
4 |
|
118 |
|
39 |
Wagenstaller J , et al. 2007 |
Edit |
|
GEN551 |
MC4R |
Melanocortin 4 receptor |
18q21.32 |
Functional |
|
|
0 |
|
4 |
Xu P , et al. 2013 |
Edit |
|
GEN155 |
MCPH1 |
microcephalin 1 |
8p23.1 |
Rare Single Gene variant |
2 |
|
17 |
|
17 |
Ozgen HM , et al. 2009 |
Edit |
|
GEN156 |
MDGA2 |
MAM domain containing glycosylphosphatidylinositol anchor 2 |
14q21.3 |
Genetic Association |
2 |
|
21 |
|
9 |
Bucan M , et al. 2009 |
Edit |
|
GEN157 |
MECP2 |
Methyl CpG binding protein 2 |
Xq28 |
Syndromic |
5 |
|
215 |
|
97 |
Amir RE , et al. 1999 |
Edit |
|
GEN649 |
MED13L |
Mediator complex subunit 13-like |
12q24.21 |
Rare single gene variant |
4 |
|
102 |
|
39 |
Iossifov I , et al. 2012 |
Edit |
|
GEN159 |
MEF2C |
myocyte enhancer factor 2C |
5q14.3 |
Rare Single Gene variant |
4 |
Yes |
91 |
|
43 |
Novara F , et al. 2010 |
Edit |
|
GEN160 |
MET |
met proto-oncogene (hepatocyte growth factor receptor) |
7q31.2 |
Genetic Association |
2 |
|
25 |
|
39 |
Campbell DB , et al. 2006 |
Edit |
|
GEN660 |
MIB1 |
Mindbomb E3 ubiquitin protein ligase 1 |
18q11.2 |
Rare single gene variant |
3 |
|
26 |
|
8 |
De Rubeis S , et al. 2014 |
Edit |
|
GEN379 |
MSN |
Moesin |
Xq12 |
Functional |
|
|
0 |
|
2 |
Kerin T , et al. 2012 |
Edit |
|
GEN335 |
MSR1 |
macrophage scavenger receptor 1 |
8p22 |
Rare Single Gene variant |
0 |
|
6 |
|
4 |
O'Roak BJ , et al. 2012 |
Edit |
|
GEN162 |
MTF1 |
metal-regulatory transcription factor 1 |
1p34.3 |
Genetic Association |
2 |
|
3 |
|
5 |
Serajee FJ , et al. 2004 |
Edit |
|
GEN785 |
MTOR |
mechanistic target of rapamycin kinase |
1p36.22 |
Rare single gene variant |
4 |
|
58 |
|
26 |
Mroske C , et al. 2015 |
Edit |
|
GEN438 |
MTX2 |
Metaxin 2 |
2q31.1 |
Functional |
|
|
0 |
|
1 |
Anitha A , et al. 2012 |
Edit |
|
GEN662 |
NAA15 |
N(alpha)-acetyltransferase 15, NatA auxiliary subunit |
4q31.1 |
Rare single gene variant |
4 |
|
68 |
|
14 |
De Rubeis S , et al. 2014 |
Edit |
|
GEN166 |
NBEA |
neurobeachin |
13q13.3 |
Rare single gene variant |
4 |
|
34 |
|
21 |
Castermans D , et al. 2003 |
Edit |
|
GEN650 |
NCKAP1 |
NCK-associated protein 1 |
2q32.1 |
Rare single gene variant |
4 |
|
37 |
|
13 |
Iossifov I , et al. 2012 |
Edit |
|
GEN350 |
NCKAP5L |
NCK-associated protein 5-like |
12q13.12 |
Rare single gene variant |
2 |
Yes |
8 |
|
3 |
Chahrour MH , et al. 2012 |
Edit |
|
GEN168 |
NDUFA5 |
NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5, 13kDa |
7q31.32 |
Genetic Association |
|
|
2 |
|
3 |
Marui T , et al. 2010 |
Edit |
|
GEN440 |
NELL1 |
neural EGFL like 1 |
11p15.1 |
Genetic association |
|
|
3 |
|
2 |
Connolly JJ , et al. 2012 |
Edit |
|
GEN782 |
NEO1 |
Neogenin 1 |
15q24.1 |
Multigenic CNV, rare single gene variant |
|
Yes |
6 |
|
1 |
Siu WK , et al. 2015 |
Edit |
|
GEN169 |
NF1 |
neurofibromin 1 (neurofibromatosis, von Recklinghausen disease, Watson disease) |
17q11.2 |
Rare Single Gene variant, Genetic Association |
3 |
|
17 |
|
27 |
Marui T , et al. 2004 |
Edit |
|
GEN766 |
NINL |
Ninein-like |
20p11.21 |
Rare single gene variant |
2 |
|
6 |
|
7 |
Sanders SJ , et al. 2015 |
Edit |
|
GEN278 |
NIPBL |
Nipped-B homolog (Drosophila) |
5p13.2 |
Syndromic |
3 |
|
21 |
|
15 |
Krantz ID , et al. 2004 |
Edit |
|
GEN170 |
NLGN1 |
neuroligin 1 |
3q26.31 |
Genetic Association |
3 |
|
15 |
|
19 |
Glessner JT , et al. 2009 |
Edit |
|
GEN627 |
NLGN2 |
Neuroligin 2 |
17p13.1 |
Rare single gene variant |
2 |
|
5 |
|
8 |
Whr M , et al. 2012 |
Edit |
|
GEN171 |
NLGN3 |
neuroligin 3 |
Xq13.1 |
Rare Single Gene variant |
3 |
|
34 |
|
38 |
Jamain S , et al. 2003 |
Edit |
|
GEN172 |
NLGN4X |
neuroligin 4, X-linked |
Xp22.32-p22.31 |
Rare Single Gene variant |
4 |
|
49 |
|
37 |
Jamain S , et al. 2003 |
Edit |
|
GEN694 |
NOS1 |
nitric oxide synthase 1 |
12q24.22 |
Rare single gene variant |
0 |
|
3 |
|
3 |
Li J , et al. 2015 |
Edit |
|
GEN174 |
NOS1AP |
nitric oxide synthase 1 (neuronal) adaptor protein |
1q23.3 |
Rare single Gene variant |
2 |
|
3 |
|
7 |
Delorme R , et al. 2010 |
Edit |
|
GEN175 |
NOS2 |
nitric oxide synthase 2 |
17q11.2 |
Genetic Association |
2 |
|
6 |
|
8 |
Kim HW , et al. 2008 |
Edit |
|
GEN176 |
NPAS2 |
neuronal PAS domain protein 2 |
2q11.2 |
Genetic Association |
|
|
3 |
|
4 |
Nicholas B , et al. 2007 |
Edit |
|
GEN177 |
NRCAM |
neuronal cell adhesion molecule |
7q31.1 |
Genetic Association |
2 |
|
8 |
|
5 |
Marui T , et al. 2008 |
Edit |
|
GEN628 |
NRG1 |
Neuregulin 1 |
8p12 |
Functional |
|
|
0 |
|
4 |
Ehrlichman RS , et al. 2009 |
Edit |
|
GEN178 |
NRP2 |
neuropilin 2 |
2q33.3 |
Genetic Association |
0 |
|
5 |
|
9 |
Wu S , et al. 2007 |
Edit |
|
GEN179 |
NRXN1 |
neurexin 1 |
2p16.3 |
Rare Single Gene variant |
5 |
Yes |
351 |
|
99 |
Feng J , et al. 2006 |
Edit |
|
GEN271 |
NRXN2 |
neurexin 2 |
11q13.1 |
Rare Single Gene variant |
3 |
|
22 |
|
13 |
Gauthier J , et al. 2011 |
Edit |
|
GEN305 |
NRXN3 |
neurexin 3 |
14q24.3-q31.1 |
Rare Single Gene variant |
2 |
|
27 |
|
20 |
Vaags AK , et al. 2012 |
Edit |
|
GEN279 |
NSD1 |
nuclear receptor binding SET domain protein 1 |
5q35.3 |
Syndromic |
4 |
|
40 |
|
24 |
Kurotaki N , et al. 2002 |
Edit |
|
GEN180 |
NTNG1 |
netrin G1 |
1p13.3 |
Syndromic |
2 |
|
5 |
|
8 |
Borg I , et al. 2005 |
Edit |
|
GEN181 |
NTRK1 |
neurotrophic tyrosine kinase, receptor, type 1 |
1q23.1 |
Rare Single Gene variant |
|
|
14 |
|
8 |
Chakrabarti B , et al. 2009 |
Edit |
|
GEN182 |
NTRK3 |
neurotrophic tyrosine kinase, receptor, type 3 |
15q25.3 |
Rare Single Gene variant, Genetic Association |
2 |
|
10 |
|
14 |
Chakrabarti B , et al. 2009 |
Edit |
|
GEN183 |
ODF3L2 |
outer dense fiber of sperm tails 3-like 2 |
19p13.3 |
Rare Single Gene variant |
|
|
11 |
|
1 |
Bucan M , et al. 2009 |
Edit |
|
GEN547 |
OGT |
O-linked N-acetylglucosamine (GlcNAc) transferase |
Xq13.1 |
Functional |
0 |
|
4 |
|
5 |
Howerton CL , et al. 2013 |
Edit |
|
GEN184 |
OPHN1 |
oligophrenin 1 |
Xq12 |
Rare Single Gene variant |
2 |
|
19 |
|
16 |
Piton A , et al. 2010 |
Edit |
|
GEN186 |
OR1C1 |
olfactory receptor, family 1, subfamily C, member 1 |
1q44 |
Rare Single Gene variant |
2 |
|
6 |
|
4 |
Bucan M , et al. 2009 |
Edit |
|
GEN1005 |
OTUD7A |
OTU deubiquitinase 7A |
15q13.3 |
Multigenic CNV |
3 |
|
2 |
|
4 |
Uddin M , et al. 2018 |
Edit |
|
GEN828 |
OXT |
oxytocin/neurophysin I prepropeptide |
20p13 |
Genetic association |
2 |
|
9 |
|
5 |
Ebstein RP , et al. 2009 |
Edit |
|
GEN187 |
OXTR |
oxytocin receptor |
3p25.3 |
Genetic Association |
0 |
|
52 |
|
49 |
Wu S , et al. 2005 |
Edit |
|
GEN630 |
PAFAH1B1 |
Platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa) |
17p13.3 |
Functional |
0 |
|
8 |
|
6 |
Sudarov A , et al. 2013 |
Edit |
|
GEN527 |
PAH |
Phenylalanine hydroxylase |
12q23.2 |
Rare single gene variant |
0 |
Yes |
12 |
|
7 |
Yu TW , et al. 2013 |
Edit |
|
GEN743 |
PAX6 |
Paired box 6 |
11p13 |
Multigenic CNV |
2 |
|
5 |
|
8 |
Umeda T , et al. 2011 |
Edit |
|
GEN189 |
PCDH10 |
protocadherin 10 |
4q28.3 |
Rare Single Gene variant |
2 |
|
5 |
|
9 |
Morrow EM , et al. 2008 |
Edit |
|
GEN190 |
PCDH19 |
protocadherin 19 |
Xq22.1 |
Syndromic |
4 |
|
219 |
|
43 |
Piton A , et al. 2010 |
Edit |
|
GEN191 |
PCDH9 |
protocadherin 9 |
13q21.32 |
Rare Single Gene variant |
2 |
|
11 |
|
8 |
Marshall CR , et al. 2008 |
Edit |
|
GEN342 |
PCDHGA11 |
protocadherin gamma subfamily A, 11 |
5q31.3 |
Rare Single Gene variant |
2 |
|
2 |
|
2 |
Sato D , et al. 2012 |
Edit |
|
GEN193 |
PER1 |
period homolog 1 (Drosophila) |
17p13.1 |
Genetic Association |
2 |
|
9 |
|
7 |
Nicholas B , et al. 2007 |
Edit |
|
GEN651 |
PHF2 |
PHD finger protein 2 |
9q22.31 |
Rare single gene variant |
3 |
|
8 |
|
7 |
Iossifov I , et al. 2012 |
Edit |
|
GEN456 |
PHF8 |
PHD finger protein 8 |
Xp11.22 |
Syndromic |
3 |
|
17 |
|
12 |
Nava C , et al. 2012 |
Edit |
|
GEN194 |
PIK3CG |
phosphoinositide-3-kinase, catalytic, gamma polypeptide |
7q22.3 |
Genetic Association |
|
|
1 |
|
4 |
Serajee FJ , et al. 2003 |
Edit |
|
GEN196 |
PITX1 |
paired-like homeodomain 1 |
5q31.1 |
Genetic Association |
2 |
|
9 |
|
6 |
Philippi A , et al. 2007 |
Edit |
|
GEN371 |
PLAUR |
Plasminogen activator, urokinase receptor |
19q13.31 |
Genetic association |
2 |
|
2 |
|
2 |
Campbell DB , et al. 2009 |
Edit |
|
GEN198 |
PLN |
phospholamban |
6q22.31 |
Rare Single Gene variant |
|
|
1 |
|
4 |
Marshall CR , et al. 2008 |
Edit |
|
GEN497 |
PLXNA4 |
Plexin A4 |
7q32.3 |
Functional |
2 |
|
4 |
|
5 |
Prasad A , et al. 2013 |
Edit |
|
GEN368 |
POGZ |
Pogo transposable element with ZNF domain |
1q21.3 |
Rare single gene variant |
5 |
|
192 |
|
46 |
Neale BM , et al. 2012 |
Edit |
|
GEN528 |
POMGNT1 |
protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) |
1p34.1 |
Syndromic |
0 |
Yes |
18 |
|
6 |
Yu TW , et al. 2013 |
Edit |
|
GEN199 |
PON1 |
paraoxonase 1 |
7q21.3 |
Genetic Association |
|
|
2 |
|
5 |
D'Amelio M , et al. 2005 |
Edit |
|
GEN806 |
POU3F2 |
POU class 3 homeobox 2 |
6q16.1 |
Functional |
0 |
|
9 |
|
6 |
Belinson H , et al. 2016 |
Edit |
|
GEN512 |
PPFIA1 |
PTPRF interacting protein alpha 1 |
11q13.3 |
Rare single gene variant |
2 |
|
2 |
|
3 |
Schluth-Bolard C , et al. 2013 |
Edit |
|
GEN359 |
PPP1R1B |
Protein phosphatase 1, regulatory (inhibitor) subunit 1B |
17q12 |
Genetic association |
|
|
3 |
|
1 |
Hettinger JA , et al. 2012 |
Edit |
|
GEN791 |
PREX1 |
Phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1 |
20q13.13 |
Genetic association/Rare single gene variant/Functional |
2 |
|
9 |
|
3 |
Li J , et al. 2015 |
Edit |
|
GEN588 |
PRICKLE1 |
Prickle homolog 1 (Drosophila) |
12q12 |
Syndromic |
2 |
|
8 |
|
5 |
Paemka L , et al. 2013 |
Edit |
|
GEN545 |
PRICKLE2 |
prickle planar cell polarity protein 2 |
3p14.1 |
Rare single gene variant/multigenic CNV |
3 |
|
12 |
|
5 |
Sowers LP , et al. 2013 |
Edit |
|
GEN201 |
PRKCB |
protein kinase C beta |
16p12.2-p12.1 |
Genetic Association |
2 |
|
7 |
|
8 |
Philippi A , et al. 2005 |
Edit |
|
GEN329 |
PSD3 |
pleckstrin and Sec7 domain containing 3 |
8p22 |
Rare Single Gene variant |
2 |
|
9 |
|
6 |
Pinto D , et al. 2010 |
Edit |
|
GEN203 |
PTCHD1 |
patched domain containing 1 |
Xp22.11 |
Rare Single Gene variant |
3 |
|
61 |
|
14 |
Marshall CR , et al. 2008 |
Edit |
|
GEN204 |
PTEN |
phosphatase and tensin homolog (mutated in multiple advanced cancers 1) |
10q23.31 |
Syndromic |
5 |
|
139 |
|
73 |
Goffin A , et al. 2001 |
Edit |
|
GEN205 |
PTGS2 |
prostaglandin-endoperoxide synthase 2 |
1q31.1 |
Genetic Association |
2 |
|
2 |
|
7 |
Yoo HJ , et al. 2008 |
Edit |
|
GEN769 |
PTK7 |
Protein tyrosine kinase 7 (inactive) |
6p21.1 |
Rare single gene variant |
3 |
|
6 |
|
6 |
Sanders SJ , et al. 2015 |
Edit |
|
GEN277 |
PTPN11 |
protein tyrosine phosphatase, non-receptor type 11 |
12q24.13 |
Syndromic |
3 |
|
35 |
|
20 |
Tartaglia M , et al. 2001 |
Edit |
|
GEN534 |
PXDN |
peroxidasin |
2p25.3 |
Multigenic CNV |
2 |
|
9 |
|
7 |
Meyer KJ , et al. 2011 |
Edit |
|
GEN207 |
RAB39B |
RAB39B, member RAS oncogene family |
Xq28 |
Rare Single Gene variant |
3 |
|
14 |
|
15 |
Giannandrea M , et al. 2010 |
Edit |
|
GEN208 |
RAI1 |
retinoic acid induced 1 |
17p11.2 |
Syndromic |
4 |
|
17 |
|
26 |
Nakamine A , et al. 2007 |
Edit |
|
GEN209 |
RAPGEF4 |
Rap guanine nucleotide exchange factor (GEF) 4 |
2q31.1 |
Rare Single Gene variant, Genetic Association |
3 |
|
9 |
|
17 |
Bacchelli E , et al. 2003 |
Edit |
|
GEN394 |
RASSF5 |
Ras association domain family member 5 |
1q32.1 |
Genetic association |
2 |
|
4 |
|
4 |
Anney R , et al. 2012 |
Edit |
|
GEN210 |
RB1CC1 |
RB1-inducible coiled-coil 1 |
8q11.23 |
Rare Single Gene variant |
3 |
|
7 |
|
5 |
Marshall CR , et al. 2008 |
Edit |
|
GEN001 |
RBFOX1 |
RNA binding protein, fox-1 homolog (C. elegans) 1 |
16p13.3 |
Genetic Association |
0 |
|
78 |
|
39 |
Sebat J , et al. 2007 |
Edit |
|
GEN212 |
REEP3 |
receptor accessory protein 3 |
10q21.3 |
Rare single gene variant |
|
|
1 |
|
3 |
Castermans D , et al. 2007 |
Edit |
|
GEN213 |
RELN |
Reelin |
7q22.1 |
Genetic Association |
5 |
|
198 |
|
57 |
Persico AM , et al. 2001 |
Edit |
|
GEN215 |
RGS7 |
regulator of G-protein signaling 7 |
1q43 |
Rare Single Gene variant |
|
Yes |
6 |
|
6 |
Pinto D , et al. 2010 |
Edit |
|
GEN216 |
RHOXF1 |
Rhox homeobox family, member 1 |
Xq24 |
Genetic Association |
|
|
2 |
|
3 |
Wang K , et al. 2009 |
Edit |
|
GEN637 |
RIMS1 |
Regulating synaptic membrane exocytosis 1 |
6q13 |
Rare single gene variant |
3 |
|
14 |
|
8 |
Dong S , et al. 2014 |
Edit |
|
GEN217 |
RIMS3 |
regulating synaptic membrane exocytosis 3 |
1p34.2 |
Rare single gene variant |
3 |
|
7 |
|
4 |
Kumar RA , et al. 2009 |
Edit |
|
GEN218 |
ROBO1 |
roundabout, axon guidance receptor, homolog 1 (Drosophila) |
3p12.3 |
Functional |
2 |
|
11 |
|
13 |
Hu VW , et al. 2006 |
Edit |
|
GEN493 |
ROBO2 |
roundabout guidance receptor 2 |
3p12.3 |
Functional |
0 |
|
8 |
|
8 |
Prasad A , et al. 2013 |
Edit |
|
GEN220 |
RPL10 |
ribosomal protein L10 |
Xq28 |
Rare single gene variant |
3 |
|
7 |
|
13 |
Klauck SM , et al. 2006 |
Edit |
|
GEN221 |
RPS6KA2 |
ribosomal protein S6 kinase, 90kDa, polypeptide 2 |
6q27 |
Rare Single Gene variant |
2 |
|
2 |
|
4 |
Marshall CR , et al. 2008 |
Edit |
|
GEN346 |
SATB2 |
SATB homeobox 2 |
2q33.1 |
Syndromic |
3 |
|
197 |
|
37 |
Talkowski ME , et al. 2012 |
Edit |
|
GEN473 |
SBF1 |
SET binding factor 1 |
22q13.33 |
Rare Single Gene variant |
3 |
|
10 |
|
9 |
O'Roak BJ , et al. 2012 |
Edit |
|
GEN223 |
SCN1A |
sodium channel, voltage-gated, type I, alpha subunit |
2q24.3 |
Rare Single Gene variant |
4 |
|
210 |
|
76 |
Weiss LA , et al. 2003 |
Edit |
|
GEN224 |
SCN2A |
sodium channel, voltage-gated, type II, alpha subunit |
2q24.3 |
Rare Single Gene variant |
5 |
|
335 |
|
87 |
Weiss LA , et al. 2003 |
Edit |
|
GEN695 |
SCN5A |
sodium voltage-gated channel alpha subunit 5 |
3p22.2 |
Rare single gene variant |
0 |
|
5 |
|
4 |
Li J , et al. 2015 |
Edit |
|
GEN327 |
SCN8A |
sodium channel, voltage gated, type VIII, alpha subunit |
12q13.13 |
Rare single gene variant |
4 |
|
194 |
|
45 |
Veeramah KR , et al. 2012 |
Edit |
|
GEN225 |
SDC2 |
syndecan 2 (heparan sulfate proteoglycan 1, cell surface-associated, fibroglycan ) |
8q22.1 |
Genetic association |
|
|
2 |
|
4 |
Ishikawa-Brush Y , et al. 1997 |
Edit |
|
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 |
2 |
|
12 |
|
17 |
Melin M , et al. 2006 |
Edit |
|
GEN372 |
SERPINE1 |
serpin family E member 1 |
7q22.1 |
Genetic association |
|
|
1 |
|
2 |
Campbell DB , et al. 2009 |
Edit |
|
GEN640 |
SETBP1 |
SET binding protein 1 |
18q12.3 |
Rare single gene variant |
4 |
|
85 |
|
21 |
O'Roak BJ , et al. 2012 |
Edit |
|
GEN474 |
SETD2 |
SET domain containing 2 |
3p21.31 |
Rare Single Gene variant |
4 |
|
54 |
|
17 |
O'Roak BJ , et al. 2012 |
Edit |
|
GEN607 |
SETD5 |
SET domain containing 5 |
3p25.3 |
Rare Single Gene variant |
5 |
|
124 |
|
29 |
Grozeva D , et al. 2014 |
Edit |
|
GEN227 |
SEZ6L2 |
SEZ6L2 seizure related 6 homolog (mouse)-like 2 |
16p11.2 |
Rare Single Gene variant |
0 |
|
6 |
|
6 |
Kumar RA , et al. 2009 |
Edit |
|
GEN228 |
SH3KBP1 |
SH3-domain kinase binding protein 1 |
Xp22.12 |
Rare Single Gene variant |
0 |
|
1 |
|
4 |
Piton A , et al. 2010 |
Edit |
|
GEN340 |
SHANK1 |
SH3 and multiple ankyrin repeat domains 1 |
19q13.33 |
Rare Single Gene variant |
4 |
|
44 |
|
11 |
Sato D , et al. 2012 |
Edit |
|
GEN229 |
SHANK2 |
SH3 and multiple ankyrin repeat domains 2 |
11q13.3-q13.4 |
Rare Single Gene variant |
5 |
|
126 |
|
42 |
Berkel S , et al. 2010 |
Edit |
|
GEN230 |
SHANK3 |
SH3 and multiple ankyrin repeat domains 3 |
22q13.33 |
Rare Single Gene variant |
5 |
|
351 |
|
110 |
Durand CM , et al. 2006 |
Edit |
|
GEN837 |
SIN3A |
SIN3 transcription regulator family member A |
15q24.2 |
Rare single gene variant |
4 |
|
73 |
|
14 |
Witteveen JS , et al. 2016 |
Edit |
|
GEN783 |
SLC12A5 |
Solute carrier family 12 (potassium/chloride transporter), member 5 |
20q13.12 |
Rare single gene variant |
3 |
|
14 |
|
7 |
Merner ND , et al. 2015 |
Edit |
|
GEN331 |
SLC16A3 |
solute carrier family 16, member 3 (monocarboxylic acid transporter 4) |
17q25.3 |
Rare Single Gene variant |
2 |
|
4 |
|
2 |
Pinto D , et al. 2010 |
Edit |
|
GEN231 |
SLC1A1 |
solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1 |
9p24.2 |
Genetic association |
|
Yes |
14 |
|
12 |
Brune CW , et al. 2009 |
Edit |
|
GEN232 |
SLC25A12 |
solute carrier family 25 (mitochondrial carrier, Aralar), member 12 |
2q31.1 |
Genetic Association |
0 |
|
18 |
|
24 |
Ramoz N , et al. 2004 |
Edit |
|
GEN270 |
SLC38A10 |
solute carrier family 38, member 10 |
17q25.3 |
Rare Single Gene variant |
2 |
|
3 |
|
2 |
Celestino-Soper PB , et al. 2011 |
Edit |
|
GEN234 |
SLC4A10 |
solute carrier family 4, sodium bicarbonate transporter-like, member 10 |
2q24.2 |
Genetic Association |
|
|
3 |
|
6 |
Sebat J , et al. 2007 |
Edit |
|
GEN568 |
SLC6A3 |
Solute carrier family 6 (neurotransmitter transporter), member 3 |
5p15.33 |
Rare single gene variant |
3 |
|
14 |
|
16 |
Hamilton PJ , et al. 2013 |
Edit |
|
GEN235 |
SLC6A4 |
solute carrier family 6 (neurotransmitter transporter, serotonin), member 4 |
17q11.2 |
Genetic Association |
2 |
|
49 |
|
27 |
Cook EH Jr , et al. 1997 |
Edit |
|
GEN236 |
SLC6A8 |
solute carrier family 6 (neurotransmitter transporter, creatine), member 8 |
Xq28 |
Rare Single Gene variant |
3 |
|
20 |
|
18 |
Po-Argelles P , et al. 2006 |
Edit |
|
GEN237 |
SLC9A6 |
solute carrier family 9 (sodium/hydrogen exchanger), member 6 |
Xq26.3 |
Syndromic |
2 |
|
33 |
|
19 |
Garbern JY , et al. 2010 |
Edit |
|
GEN238 |
SLC9A9 |
solute carrier family 9 (sodium/hydrogen exchanger), member 9 |
3q24 |
Rare Single Gene variant |
3 |
|
20 |
|
14 |
Morrow EM , et al. 2008 |
Edit |
|
GEN597 |
SLIT3 |
slit guidance ligand 3 |
5q34-q35.1 |
Multigenic CNV |
2 |
|
5 |
|
4 |
Cukier HN , et al. 2014 |
Edit |
|
GEN558 |
SLITRK5 |
SLIT and NTRK like family member 5 |
13q31.2 |
Functional |
3 |
|
11 |
|
9 |
Shmelkov SV , et al. 2010 |
Edit |
|
GEN731 |
SMARCA2 |
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 |
9p24.3 |
Genetic association/functional |
3 |
|
32 |
|
23 |
Wolff D , et al. 2012 |
Edit |
|
GEN520 |
SMG6 |
SMG6, nonsense mediated mRNA decay factor |
17p13.3 |
Multigenic CNV |
2 |
|
3 |
|
2 |
Nguyen LS , et al. 2013 |
Edit |
|
GEN701 |
SNAP25 |
Synaptosomal-associated protein, 25kDa |
20p12.2 |
Genetic association |
0 |
|
8 |
|
8 |
Braida D , et al. 2015 |
Edit |
|
GEN239 |
SND1 |
staphylococcal nuclease and tudor domain containing 1 |
7q32.1 |
Genetic Association |
2 |
|
2 |
|
8 |
Holt R , et al. 2010 |
Edit |
|
GEN343 |
SNRPN |
small nuclear ribonucleoprotein polypeptide N |
15q11.2 |
Rare Single Gene variant |
|
|
6 |
|
5 |
Talkowski ME , et al. 2012 |
Edit |
|
GEN360 |
SNTG2 |
syntrophin gamma 2 |
2p25.3 |
Rare single gene variant |
2 |
|
5 |
|
6 |
Rosenfeld JA , et al. 2010 |
Edit |
|
GEN717 |
SNX14 |
Sorting nexin 14 |
6q14.3 |
Syndromic |
2 |
|
23 |
|
7 |
Akizu N , et al. 2015 |
Edit |
|
GEN604 |
SOD1 |
superoxide dismutase 1 |
21q22.11 |
Functional |
2 |
|
3 |
|
3 |
Kova J , et al. 2013 |
Edit |
|
GEN366 |
SOX5 |
SRY-box 5 |
12p12.1 |
Rare single gene variant |
4 |
|
62 |
|
15 |
Rosenfeld JA , et al. 2010 |
Edit |
|
GEN793 |
SPARCL1 |
SPARC like 1 |
4q22.1 |
Functional |
2 |
|
14 |
|
3 |
De Rubeis S , et al. 2014 |
Edit |
|
GEN671 |
SRRM4 |
Serine/arginine repetitive matrix 4 |
12q24.23 |
Functional |
0 |
|
1 |
|
5 |
Irimia M , et al. 2014 |
Edit |
|
GEN240 |
ST7 |
suppression of tumorigenicity 7 |
7q31.2 |
Rare Single Gene variant |
2 |
|
5 |
|
4 |
Vincent JB , et al. 2000 |
Edit |
|
GEN241 |
STK39 |
serine threonine kinase 39 (STE20/SPS1 homolog, yeast) |
2q24.3 |
Genetic Association |
|
|
3 |
|
5 |
Ramoz N , et al. 2008 |
Edit |
|
GEN600 |
STX1A |
Syntaxin 1A (brain) |
7q11.23 |
Genetic association |
2 |
|
9 |
|
6 |
Nakamura K , et al. 2008 |
Edit |
|
GEN242 |
SUCLG2 |
succinate-CoA ligase, GDP-forming, beta subunit |
3p14.1 |
Rare Single Gene variant |
2 |
|
6 |
|
6 |
Bucan M , et al. 2009 |
Edit |
|
GEN243 |
SYN1 |
Synapsin 1 |
Xp11.3-p11.23 |
Rare Single Gene variant |
3 |
|
17 |
|
23 |
Fassio A , et al. 2011 |
Edit |
|
GEN564 |
SYN3 |
Synapsin III |
22q12.3 |
Functional |
2 |
|
2 |
|
3 |
Greco B , et al. 2013 |
Edit |
|
GEN244 |
SYNE1 |
spectrin repeat containing, nuclear envelope 1 |
6q25.2 |
Rare Single Gene variant |
3 |
|
30 |
|
19 |
O'Roak BJ , et al. 2011 |
Edit |
|
GEN245 |
SYNGAP1 |
synaptic Ras GTPase activating protein 1 |
6p21.32 |
Rare Single Gene variant |
5 |
|
189 |
|
75 |
Hamdan FF , et al. 2011 |
Edit |
|
GEN246 |
SYT17 |
synaptotagmin XVII |
16p12.3 |
Genetic Association |
|
|
2 |
|
2 |
Wang K , et al. 2009 |
Edit |
|
GEN341 |
SYT3 |
synaptotagmin 3 |
19q13.33 |
Rare Single Gene variant |
2 |
|
2 |
|
2 |
Sato D , et al. 2012 |
Edit |
|
GEN792 |
TAF1 |
TATA-box binding protein associated factor 1 |
Xq13.1 |
Rare single gene variant |
3 |
|
60 |
|
13 |
O'Rawe JA , et al. 2015 |
Edit |
|
GEN248 |
TBC1D5 |
TBC1 domain family, member 5 |
3p24.3 |
Rare Single Gene variant |
2 |
|
5 |
|
8 |
Pinto D , et al. 2010 |
Edit |
|
GEN301 |
TBL1X |
transducin (beta)-like 1X-linked |
Xp22.31-p22.2 |
Genetic Association |
|
|
3 |
|
1 |
Chung RH , et al. 2011 |
Edit |
|
GEN476 |
TBL1XR1 |
transducin beta like 1 X-linked receptor 1 |
3q26.32 |
Rare Single Gene variant |
4 |
|
39 |
|
27 |
O'Roak BJ , et al. 2012 |
Edit |
|
GEN477 |
TBR1 |
T-box, brain, 1 |
2q24.2 |
Rare Single Gene variant |
5 |
|
76 |
|
36 |
O'Roak BJ , et al. 2012 |
Edit |
|
GEN592 |
TCF4 |
Transcription factor 4 |
18q21.2 |
Syndromic |
4 |
|
54 |
|
57 |
Van Balkom ID , et al. 2012 |
Edit |
|
GEN652 |
TCF7L2 |
Transcription factor 7-like 2 (T-cell specific, HMG-box) |
10q25.2-q25.3 |
Rare single gene variant |
4 |
|
35 |
|
9 |
Iossifov I et al. 2014 |
Edit |
|
GEN249 |
TDO2 |
tryptophan 2,3-dioxygenase |
4q32.1 |
Genetic Association |
|
|
5 |
|
4 |
Nabi R , et al. 2004 |
Edit |
|
GEN757 |
TERF2 |
Telomeric repeat binding factor 2 |
16q22.1 |
Rare single gene variant |
2 |
|
3 |
|
4 |
Iossifov I et al. 2014 |
Edit |
|
GEN251 |
TH |
tyrosine hydroxylase |
11p15.5 |
Genetic Association |
2 |
|
5 |
|
19 |
Comings DE , et al. 1995 |
Edit |
|
GEN421 |
THRA |
thyroid hormone receptor alpha |
17q21.1 |
Functional |
2 |
|
3 |
|
5 |
Pilhatsch M , et al. 2010 |
Edit |
|
GEN252 |
TLK2 |
tousled-like kinase 2 |
17q23.2 |
Rare Single Gene variant |
4 |
|
55 |
|
17 |
O'Roak BJ , et al. 2011 |
Edit |
|
GEN269 |
TMLHE |
trimethyllysine hydroxylase, epsilon |
Xq28 |
Rare Single Gene variant |
3 |
|
10 |
|
5 |
Celestino-Soper PB , et al. 2011 |
Edit |
|
GEN653 |
TNRC6B |
Trinucleotide repeat containing 6B |
22q13.1 |
Rare single gene variant |
4 |
|
51 |
|
14 |
Dong S , et al. 2014 |
Edit |
|
GEN468 |
TOMM20 |
Translocase of outer mitochondrial membrane 20 homolog (yeast) |
1q42.3 |
Functional |
|
|
0 |
|
1 |
Anitha A , et al. 2012 |
Edit |
|
GEN569 |
TOP1 |
Topoisomerase (DNA) I |
20q12 |
Rare Single Gene variant |
2 |
|
3 |
|
7 |
King IF , et al. 2013 |
Edit |
|
GEN561 |
TOP3B |
Topoisomerase (DNA) III beta |
22q11.22 |
Rare single gene variant |
2 |
|
5 |
|
6 |
Xu D , et al. 2013 |
Edit |
|
GEN584 |
TRIM33 |
Tripartite motif containing 33 |
1p13.2 |
Genetic association/Functional |
|
|
4 |
|
1 |
Xia K , et al. 2013 |
Edit |
|
GEN664 |
TRIO |
Trio Rho guanine nucleotide exchange factor |
5p15.2 |
Rare Single Gene variant |
4 |
|
132 |
|
34 |
De Rubeis S , et al. 2014 |
Edit |
|
GEN354 |
TRIP12 |
Thyroid hormone receptor interactor 12 |
2q36.3 |
Rare single gene variant |
4 |
Yes |
73 |
|
24 |
Chahrour MH , et al. 2012 |
Edit |
|
GEN666 |
TRPC6 |
Transient receptor potential cation channel, subfamily C, member 6 |
11q22.1 |
Rare single gene variant/functional |
3 |
|
12 |
|
3 |
Griesi-Oliveira K , et al. 2014 |
Edit |
|
GEN255 |
TSC1 |
tuberous sclerosis 1 |
9q34.13 |
Rare Single Gene variant |
4 |
|
43 |
|
25 |
Smalley SL 1998 |
Edit |
|
GEN256 |
TSC2 |
tuberous sclerosis 2 |
16p13.3 |
Genetic Association |
4 |
|
91 |
|
42 |
Smalley SL 1998 |
Edit |
|
GEN258 |
TSN |
translin |
2q14.3 |
Functional |
|
|
0 |
|
3 |
Stein JM , et al. 2006 |
Edit |
|
GEN259 |
TSPAN7 |
tetraspanin 7 |
Xp11.4 |
Rare Single Gene variant |
2 |
|
9 |
|
8 |
Piton A , et al. 2010 |
Edit |
|
GEN565 |
TTI2 |
TELO2 interacting protein 2 |
8p12 |
Rare single gene variant |
2 |
|
2 |
|
2 |
Langout M , et al. 2013 |
Edit |
|
GEN261 |
UBE2H |
ubiquitin-conjugating enzyme E2H (UBC8 homolog, yeast) |
7q32.2 |
Genetic Association |
|
|
2 |
|
2 |
Vourc'h P , et al. 2003 |
Edit |
|
GEN262 |
UBE3A |
ubiquitin protein ligase E3A |
15q11.2 |
Genetic Association |
4 |
|
39 |
|
38 |
Nurmi EL , et al. 2001 |
Edit |
|
GEN351 |
UBE3B |
ubiquitin protein ligase E3B |
12q24.11 |
Rare single gene variant |
2 |
Yes |
24 |
|
8 |
Chahrour MH , et al. 2012 |
Edit |
|
GEN478 |
UBE3C |
Ubiquitin protein ligase E3C |
7q36.3 |
Rare Single Gene variant |
2 |
|
4 |
|
4 |
O'Roak BJ , et al. 2012 |
Edit |
|
GEN469 |
UBR5 |
ubiquitin protein ligase E3 component n-recognin 5 |
8q22.3 |
Rare single gene variant |
3 |
|
8 |
|
9 |
Kato T , et al. 2012 |
Edit |
|
GEN364 |
UPF3B |
UPF3B, regulator of nonsense mediated mRNA decay |
Xq24 |
Syndromic |
3 |
|
28 |
|
17 |
Tarpey PS , et al. 2007 |
Edit |
|
GEN758 |
USP7 |
Ubiquitin specific peptidase 7 (herpes virus-associated) |
16p13.2 |
Rare single gene variant |
2 |
|
30 |
|
8 |
Hao YH , et al. 2015 |
Edit |
|
GEN263 |
VASH1 |
vasohibin 1 |
14q24.3 |
Genetic Association |
|
|
2 |
|
4 |
Wang K , et al. 2009 |
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GEN554 |
VIP |
vasoactive intestinal peptide |
6q25.2 |
Functional |
2 |
|
2 |
|
6 |
Hill JM , et al. 2007 |
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|
GEN281 |
VPS13B |
vacuolar protein sorting 13 homolog B (yeast) |
8q22.2 |
Syndromic |
4 |
Yes |
72 |
|
22 |
Kolehmainen J , et al. 2003 |
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GEN654 |
WAC |
WW domain containing adaptor with coiled-coil |
10p12.1 |
Syndromic |
4 |
|
59 |
|
24 |
Iossifov I et al. 2014 |
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|
GEN635 |
WDFY3 |
WD repeat and FYVE domain containing 3 |
4q21.23 |
Rare Single Gene variant |
4 |
|
58 |
|
20 |
Iossifov I , et al. 2012 |
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|
GEN264 |
WNK3 |
WNK lysine deficient protein kinase 3 |
Xp11.22 |
Rare Single Gene variant |
|
|
1 |
|
6 |
Piton A , et al. 2010 |
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GEN267 |
XPC |
xeroderma pigmentosum, complementation group C |
3p25.1 |
Rare Single Gene variant |
2 |
|
4 |
|
11 |
Khan SG , et al. 1998 |
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|
GEN377 |
XPO1 |
exportin 1 |
2p15 |
Genetic association |
0 |
|
7 |
|
7 |
Liu X , et al. 2011 |
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|
GEN339 |
YTHDC2 |
YTH domain containing 2 |
5q22.2 |
Rare Single Gene variant |
2 |
|
5 |
|
5 |
O'Roak BJ , et al. 2012 |
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|
GEN501 |
YWHAE |
tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon |
17p13.3 |
Multigenic CNV |
|
|
3 |
|
5 |
Prasad A , et al. 2013 |
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GEN619 |
ZBTB20 |
Zinc finger and BTB domain containing 20 |
3q13.31 |
Multigenic CNV |
4 |
|
68 |
|
28 |
Cordeddu V , et al. 2014 |
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|
GEN641 |
ZMYND11 |
Zinc finger, MYND-type containing 11 |
10p15.3 |
Rare single gene variant |
4 |
|
52 |
|
13 |
Iossifov I , et al. 2012 |
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|
GEN352 |
ZNF18 |
zinc finger protein 18 |
17p12 |
Rare single gene variant |
|
Yes |
4 |
|
1 |
Chahrour MH , et al. 2012 |
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GEN398 |
ZNF827 |
Zinc finger protein 827 |
4q31.21-q31.22 |
Genetic association |
2 |
|
2 |
|
2 |
Anney R , et al. 2012 |
Edit |