Gene
CNV
Animal Models
PIN

Human Gene Search Results

Unique ID	Gene Symbol	Gene Name	Chromosome Loc	Genetic Category	Biallelic	# of Variants	# of Reports	Primary Reference	Display
GEN268	ABAT	4-aminobutyrate aminotransferase	16p13.2	Genetic Association		3	5	Barnby G , et al. 2005	Edit
GEN672	ACTN4	actinin alpha 4	19q13.2	Rare single gene variant		3	4	Li J , et al. 2015	Edit
GEN002	ADA	adenosine deaminase	20q13.12	Genetic Association		5	7	Bottini N , et al. 2001	Edit
GEN470	ADCY5	Adenylate cyclase 5	3q21.1	Rare Single Gene variant		7	6	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		68	39	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		5	6	Sivendran S , et al. 2004	Edit
GEN289	AFF2	AF4/FMR2 family, member 2	Xq28	Syndromic		35	15	Abrams MT , et al. 1997	Edit
GEN006	AFF4	AF4/FMR2 family, member 4	5q31.1	Rare Single Gene variant		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		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		8	6	Sebat J , et al. 2007	Edit
GEN007	AGTR2	angiotensin II receptor, type 2	Xq23	Rare Single Gene variant		6	3	Vervoort VS , et al. 2002	Edit
GEN008	AHI1	Abelson helper integration site 1	6q23.3	Rare Single Gene variant		27	19	Alvarez Retuerto AI , et al. 2008	Edit
GEN009	ALDH5A1	aldehyde dehydrogenase 5 family, member A1 (succinate-semialdehyde dehydrogenase )	6p22.3	Syndromic	Yes	8	10	Pearl PL , et al. 2003	Edit
GEN587	ANK2	Ankyrin 2, neuronal	4q25-q26	Rare Single Gene variant		76	14	Iossifov I , et al. 2012	Edit
GEN406	ANK3	ankyrin 3	10q21.2	Genetic Association		34	26	Bi C , et al. 2012	Edit
GEN011	ANKRD11	ankyrin repeat domain 11	16q24.3	Rare Single Gene variant		67	43	Marshall CR , et al. 2008	Edit
GEN609	ANXA1	Annexin A1	9q21.13	Rare single gene variant		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		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		3	2	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		24	7	Akshoomoff N , et al. 2014	Edit
GEN713	ARHGAP33	Rho GTPase activating protein 33	19q13.12	Functional		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		26	10	Machado CO , et al. 2015	Edit
GEN357	ARID1B	AT-rich interaction domain 1B	6q25.3	Rare single gene variant		107	44	Nord AS , et al. 2011	Edit
GEN016	ARNT2	aryl-hydrocarbon receptor nuclear translocator 2	15q25.1	Syndromic		7	11	Chakrabarti B , et al. 2009	Edit
GEN017	ARX	aristaless related homeobox	Xp21.3	Rare single gene variant		36	17	Sherr EH 2003	Edit
GEN642	ASH1L	Ash1 (absent, small, or homeotic)-like (Drosophila)	1q22	Rare single gene variant		65	15	Willsey AJ , et al. 2013	Edit
GEN020	ASTN2	astrotactin 2	9q33.1	Rare Single Gene variant		29	13	Glessner JT , et al. 2009	Edit
GEN577	ASXL3	Additional sex combs like 3 (Drosophila)	18q12.1	Syndromic		63	23	Dinwiddie DL , et al. 2013	Edit
GEN021	ATP10A	Probable phospholipid-transporting ATPase VA	15q12	Genetic Association		11	9	Nurmi EL , et al. 2003	Edit
GEN829	ATP1A3	ATPase Na+/K+ transporting subunit alpha 3	19q13.2	Syndromic		14	13	Demos MK , et al. 2014	Edit
GEN273	ATP2B2	ATPase, Ca++ transporting, plasma membrane 2	3p25.3	Genetic Association		13	9	Carayol J , et al. 2011	Edit
GEN831	ATP8A1	ATPase phospholipid transporting 8A1	4p13	Rare single gene variant		2	3	Kerr DJ , et al. 2016	Edit
GEN411	ATRNL1	Attractin-like 1	10q25.3	Rare single gene variant		3	3	Stark Z , et al. 2010	Edit
GEN288	ATRX	alpha thalassemia/mental retardation syndrome X-linked	Xq21.1	Syndromic		34	21	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		87	38	Sultana R , et al. 2002	Edit
GEN023	AVPR1A	arginine vasopressin receptor 1A	12q14.2	Rare Single Gene variant, Genetic Association		35	22	Yirmiya N , et al. 2006	Edit
GEN024	BAIAP2	BAI1-associated protein 2	17q25.3	Genetic Association		6	11	Toma C , et al. 2010	Edit
GEN423	BCKDK	Branched chain ketoacid dehydrogenase kinase	16p11.2	Rare single gene variant	Yes	6	4	Novarino G , et al. 2012	Edit
GEN643	BCL11A	B-cell CLL/lymphoma 11A (zinc finger protein)	2p16.1	Rare single gene variant		32	16	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		42	10	Iossifov I , et al. 2012	Edit
GEN595	BRAF	v-raf murine sarcoma viral oncogene homolog B	7q34	Syndromic		12	8	Alfieri P , et al. 2014	Edit
GEN337	BRCA2	breast cancer 2, early onset	13q13.1	Rare Single Gene variant		7	5	Neale BM , et al. 2012	Edit
GEN029	C4B	complement component 4B	6p21.33	Genetic Association		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		41	45	Splawski I , et al. 2004	Edit
GEN813	CACNA1E	calcium voltage-gated channel subunit alpha1 E	1q25.3	Rare single gene variant		39	10	O'Roak BJ , et al. 2012	Edit
GEN033	CACNA1F	calcium channel, voltage-dependent, alpha 1F	Xp11.23	Genetic Association		6	7	Strom TM , et al. 1998	Edit
GEN034	CACNA1G	calcium channel, voltage-dependent, T type, alpha 1G subunit	17q21.33	Genetic Association		37	20	Strom SP , et al. 2009	Edit
GEN035	CACNA1H	calcium channel, voltage-dependent, alpha 1H subunit	16p13.3	Rare Single Gene variant		36	27	Splawski I , et al. 2006	Edit
GEN612	CACNB2	Calcium channel, voltage-dependent, beta 2 subunit	10p12.33-p12.31	Genetic association		6	4	Breitenkamp AF , et al. 2014	Edit
GEN036	CADM1	cell adhesion molecule 1	11q23.3	Rare Single Gene variant		5	9	Zhiling Y , et al. 2008	Edit
GEN037	CADPS2	Ca2+-dependent activator protein for secretion 2	7q31.32	Rare Single Gene variant		23	12	Cisternas FA , et al. 2003	Edit
GEN555	CAPRIN1	Cell cycle associated protein 1	11p13	Functional		2	4	Jiang YH , et al. 2013	Edit
GEN038	CASC4	cancer susceptibility candidate 4	15q15.3	Rare Single Gene variant		7	4	Pinto D , et al. 2010	Edit
GEN621	CC2D1A	Coiled-coil and C2 domain containing 1A	19p13.12	Rare single gene variant	Yes	22	12	Manzini MC , et al. 2014	Edit
GEN041	CD44	CD44 molecule (Indian blood group)	11p13	Functional		2	5	Hu VW , et al. 2006	Edit
GEN657	CDC42BPB	CDC42 binding protein kinase beta (DMPK-like)	14q32.32	Rare single gene variant		20	7	O'Roak BJ , et al. 2012	Edit
GEN042	CDH10	cadherin 10, type 2 (T2-cadherin)	5p14.2-p14.1	Genetic Association		17	10	Wang K , et al. 2009	Edit
GEN615	CDH11	cadherin 11	16q21	Rare Single Gene variant/genetic association		8	4	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		9	10	Pagnamenta AT , et al. 2010	Edit
GEN045	CDH9	cadherin 9, type 2 (T1-cadherin)	5p14.1	Genetic Association		14	7	Wang K , et al. 2009	Edit
GEN046	CDKL5	cyclin-dependent kinase-like 5	Xp22.13	Syndromic	Yes	98	36	Weaving LS , et al. 2004	Edit
GEN257	CEP41	testis specific, 14	7q32.2	Rare Single Gene variant		13	5	Korvatska O , et al. 2011	Edit
GEN548	CHD2	Chromodomain helicase DNA binding protein 2	15q26.1	Multigenic CNV		68	36	Carvill GL , et al. 2013	Edit
GEN280	CHD7	chromodomain helicase DNA binding protein 7	8q12.2	Syndromic		35	28	Vissers LE , et al. 2004	Edit
GEN334	CHD8	chromodomain helicase DNA binding protein 8	14q11.2	Multigenic CNV		146	49	O'Roak BJ , et al. 2012	Edit
GEN292	CHRNA7	cholinergic receptor, nicotinic, alpha 7	15q13.3	Multigenic CNV		31	13	Mikhail FM , et al. 2011	Edit
GEN579	CLSTN3	Calsyntenin 3	12p13.31	Functional		2	3	Pettem KL , et al. 2013	Edit
GEN349	CLTCL1	clathrin, heavy chain-like 1	22q11.21	Rare single gene variant	Yes	22	6	Chahrour MH , et al. 2012	Edit
GEN382	CMIP	c-Maf inducing protein	16q23.2-q23.3	Genetic Association		20	6	Van der Aa N , et al. 2012	Edit
GEN049	CNR1	cannabinoid receptor 1 (brain)	6q15	Genetic Association		33	7	Chakrabarti B , et al. 2006	Edit
GEN050	CNTN4	contactin 4	3p26.3-p26.2	Syndromic		21	21	Roohi J , et al. 2008	Edit
GEN386	CNTN6	Contactin 6	3p26.3	Rare single gene variant		61	13	van Daalen E , et al. 2011	Edit
GEN051	CNTNAP2	contactin associated protein-like 2	7q35-q36.1	Syndromic		129	67	Arking DE , et al. 2008	Edit
GEN616	CNTNAP4	Contactin associated protein-like 4	16q23.1	Rare Single Gene variant		19	11	Karayannis T , et al. 2014	Edit
GEN052	CNTNAP5	contactin associated protein-like 5	2q14.3	Genetic Association		18	12	Pagnamenta AT , et al. 2010	Edit
GEN285	CREBBP	CREB binding protein	16p13.3	Syndromic		90	28	Barnby G , et al. 2005	Edit
GEN330	CSNK1D	casein kinase 1, delta	17q25.3	Rare Single Gene variant		3	2	Pinto D , et al. 2010	Edit
GEN549	CTCF	CCCTC-binding factor	16q22.1	Functional		52	14	Ishihara K , et al. 2006	Edit
GEN053	CTNNA3	catenin (cadherin-associated protein), alpha 3	10q21.3	Genetic Association	Yes	57	15	Wang K , et al. 2009	Edit
GEN472	CTNNB1	catenin beta 1	3p22.1	Rare Single Gene variant		34	21	O'Roak BJ , et al. 2012	Edit
GEN711	CTNND2	Catenin (cadherin-associated protein), delta 2	5p15.2	Rare single gene variant		18	5	Turner TN , et al. 2015	Edit
GEN054	CTTNBP2	cortactin binding protein 2	7q31.31	Rare Single Gene variant		40	8	Cheung J , et al. 2001	Edit
GEN409	CUL3	Cullin 3	2q36.2	Rare single gene variant		20	21	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		4	5	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		9	10	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		54	17	Vulto-van Silfhout AT , et al. 2014	Edit
GEN825	DENR	density-regulated protein	12q24.31	Rare single gene variant		3	3	Neale BM , et al. 2012	Edit
GEN675	DGKZ	diacylglycerol kinase zeta	11p11.2	Rare single gene variant		2	2	Li J , et al. 2015	Edit
GEN063	DHCR7	7-dehydrocholesterol reductase	11q13.4	Syndromic		24	17	Tierney E , et al. 2001	Edit
GEN644	DIP2A	DIP2 disco-interacting protein 2 homolog A (Drosophila)	21q22.3	Rare single gene variant		7	6	Iossifov I , et al. 2012	Edit
GEN065	DISC1	disrupted in schizophrenia 1	1q42.2	Syndromic		31	34	Kilpinen H , et al. 2007	Edit
GEN676	DLG1	discs large MAGUK scaffold protein 1	3q29	Rare single gene variant		10	4	Li J , et al. 2015	Edit
GEN412	DLG4	discs large MAGUK scaffold protein 4	17p13.1	Functional		13	11	Feyder M , et al. 2010	Edit
GEN066	DLGAP2	discs, large (Drosophila) homolog-associated protein 2	8p23.3	Rare Single Gene variant		25	12	Marshall CR , et al. 2008	Edit
GEN067	DLX1	distal-less homeobox 1	2q31.1	Genetic Association		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	9	Nakashima N , et al. 2009	Edit
GEN070	DMD	dystrophin (muscular dystrophy, Duchenne and Becker types)	Xp21.2-p21.1	Syndromic		35	37	Wu JY , et al. 2006	Edit
GEN071	DMPK	dystrophia myotonica-protein kinase	19q13.32	Syndromic		4	8	Ekstrm AB , et al. 2008	Edit
GEN736	DMXL2	Dmx-like 2	15q21.2	Rare single gene variant		6	6	Iossifov I , et al. 2014	Edit
GEN427	DNM1L	Dynamin 1-like	12p11.21	Functional		5	6	Anitha A , et al. 2012	Edit
GEN603	DOCK4	Dedicator of cytokinesis 4	7q31.1	Genetic association/multigenic CNV		9	9	Maestrini E , et al. 2009	Edit
GEN072	DPP10	Dipeptidyl-peptidase 10	2q14.1	Rare Single Gene variant		13	11	Marshall CR , et al. 2008	Edit
GEN073	DPP6	dipeptidyl-peptidase 6	7q36.2	Genetic Association		25	25	Marshall CR , et al. 2008	Edit
GEN074	DPYD	dihydropyrimidine dehydrogenase	1p21.3	Rare Single Gene variant		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		8	6	Hettinger JA , et al. 2012	Edit
GEN075	DRD3	dopamine receptor D3	3q13.31	Genetic Association		4	8	de Krom M , et al. 2008	Edit
GEN645	DSCAM	Down syndrome cell adhesion molecule	21q22.2	Rare single gene variant		20	8	Iossifov I , et al. 2014	Edit
GEN836	DUSP15	dual specificity phosphatase 15	20q11.21	Rare single gene variant		7	4	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		1	3	Dong S , et al. 2014	Edit
GEN516	DYDC1	DPY30 domain containing 1	10q23.1	Multigenic CNV		9	2	Girirajan S , et al. 2013	Edit
GEN367	DYRK1A	Dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A	21q22.13	Syndromic		125	42	O'Roak BJ , et al. 2012	Edit
GEN344	EHMT1	Euchromatic histone-lysine N-methyltransferase 1	9q34.3	Syndromic		25	23	Talkowski ME , et al. 2012	Edit
GEN077	EIF4E	eukaryotic translation initiation factor 4E	4q23	Rare single gene variant		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		5	5	Iossifov I , et al. 2014	Edit
GEN282	EML1	echinoderm microtubule associated protein like 1	14q32.2	Rare Single Gene variant		6	2	Schaaf CP , et al. 2011	Edit
GEN078	EN2	engrailed homolog 2	7q36.3	Genetic Association		11	23	Gharani N , et al. 2004	Edit
GEN308	EP300	E1A binding protein p300	22q13.2	Syndromic		32	17	Vaags AK , et al. 2012	Edit
GEN353	EP400	E1A binding protein p400	12q24.33	Rare single gene variant	Yes	52	6	Chahrour MH , et al. 2012	Edit
GEN365	EPC2	Enhancer of polycomb homolog 2 (Drosophila)	2q23.1	Rare single gene variant		3	4	Jaillard S , et al. 2008	Edit
GEN410	EPHB2	EPH receptor B2	1p36.12	Rare single gene variant		9	4	Sanders SJ , et al. 2012	Edit
GEN081	ERBB4	v-erb-a erythroblastic leukemia viral oncogene homolog 4 (avian)	2q34	Rare Single Gene variant		13	15	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		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		5	9	Chakrabarti B , et al. 2009	Edit
GEN680	EXOC5	exocyst complex component 5	14q22.3	Rare single gene variant		2	2	Li J , et al. 2015	Edit
GEN681	EXOC6	exocyst complex component 6	10q23.33	Rare single gene variant		2	1	Li J , et al. 2015	Edit
GEN361	EXT1	Exostosin 1	8q24.11	Rare single gene variant		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		4	7	Maekawa M , et al. 2010	Edit
GEN087	FABP7	fatty acid binding protein 7, brain	6q22.31	Genetic Association		10	7	Maekawa M , et al. 2010	Edit
GEN589	FAN1	FANCD2/FANCI-associated nuclease 1	15q13.3	Rare single gene variant		4	1	Ionita-Laza I , et al. 2013	Edit
GEN338	FAT1	FAT atypical cadherin 1	4q35.2	Rare Single Gene variant		8	5	Neale BM , et al. 2012	Edit
GEN088	FBXO33	F-box protein 33	14q21.1	Genetic Association		2	3	Wang K , et al. 2009	Edit
GEN089	FBXO40	F-box protein 40	3q13.33	Genetic Association		3	4	Glessner JT , et al. 2009	Edit
GEN090	FEZF2	FEZ family zinc finger 2	3p14.2	Genetic Association		5	9	Wang K , et al. 2009	Edit
GEN091	FHIT	fragile histidine triad gene	3p14.2	Genetic Association		19	12	Sebat J , et al. 2007	Edit
GEN093	FMR1	fragile X mental retardation 1	Xq27.3	Functional		34	42	Rogers SJ , et al. 2002	Edit
GEN094	FOXG1	Forkhead box G1	14q12	Syndromic		69	26	Kortm F , et al. 2011	Edit
GEN095	FOXP1	forkhead box P1	3p13	Rare Single Gene variant		124	49	O'Roak BJ , et al. 2011	Edit
GEN096	FOXP2	forkhead box P2	7q31.1	Rare single gene variant		81	42	Gong X , et al. 2004	Edit
GEN097	FRK	fyn-related kinase	6q22.1	Genetic Association		3	3	Wang K , et al. 2009	Edit
GEN624	GABRA1	Gamma-aminobutyric acid (GABA) A receptor, alpha 1	5q34	Functional		5	8	Fatemi SH , et al. 2008	Edit
GEN099	GABRA4	gamma-aminobutyric acid (GABA) A receptor, alpha 4	4p12	Genetic Association		9	6	Ma DQ , et al. 2005	Edit
GEN100	GABRB1	gamma-aminobutyric acid (GABA) A receptor, beta 1	4p12	Genetic Association		6	6	Ma DQ , et al. 2005	Edit
GEN101	GABRB3	gamma-aminobutyric acid (GABA) A receptor, beta 3	15q12	Genetic Association	Yes	77	37	Cook EH Jr , et al. 1998	Edit
GEN480	GABRQ	Gamma-aminobutyric acid (GABA) A receptor, theta	Xq28	Rare Single Gene variant		2	2	Piton A , et al. 2012	Edit
GEN742	GADD45B	Growth arrest and DNA-damage-inducible, beta	19p13.3	Functional		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		10	7	Iossifov I , et al. 2014	Edit
GEN103	GLO1	glyoxalase I	6p21.2	Genetic Association		7	10	Junaid MA , et al. 2004	Edit
GEN105	GNAS	GNAS complex locus	20q13.32	Rare Single Gene variant, Genetic Association		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		7	2	Chen YZ , et al. 2011	Edit
GEN505	GPHN	Gephyrin	14q23.3	Rare single gene variant		13	8	Prasad A , et al. 2013	Edit
GEN489	GPR37	G protein-coupled receptor 37	7q31.33	Rare single gene variant		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		23	9	Schaaf CP , et al. 2011	Edit
GEN109	GRIK2	glutamate ionotropic receptor kainate type subunit 2	6q16.3	Genetic Association		21	18	Jamain S , et al. 2002	Edit
GEN626	GRIN1	Glutamate receptor, ionotropic, N-methyl D-aspartate 1	9q34.3	Functional	Yes	48	17	Gandal MJ , et al. 2012	Edit
GEN110	GRIN2A	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	16p13.2	Genetic Association		188	39	Barnby G , et al. 2005	Edit
GEN111	GRIN2B	glutamate receptor, inotropic, N-methyl D-apartate 2B	12p13.1	Genetic Association		164	53	O'Roak BJ , et al. 2011	Edit
GEN112	GRIP1	glutamate receptor interacting protein 1	12q14.3	Rare Single Gene variant, Genetic Association		12	13	Mejias R , et al. 2011	Edit
GEN355	GRM5	glutamate metabotropic receptor 5	11q14.2-q14.3	Rare single gene variant		22	7	Iossifov I , et al. 2012	Edit
GEN114	GRPR	Gastrin-releasing peptide receptor	Xp22.2	Genetic Association		6	8	Ishikawa-Brush Y , et al. 1997	Edit
GEN416	GSK3B	Glycogen synthase kinase 3 beta	3q13.33	Functional		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	5	Malenfant P , et al. 2011	Edit
GEN430	HCFC1	host cell factor C1	Xq28	Syndromic		19	9	Huang L , et al. 2012	Edit
GEN611	HCN1	Hyperpolarization activated cyclic nucleotide-gated potassium channel 1	5p12	Rare single gene variant		44	8	Nava C , et al. 2014	Edit
GEN117	HDAC4	histone deacetylase 4	2q37.3	Syndromic		12	16	Williams SR , et al. 2010	Edit
GEN482	HDAC6	histone deacetylase 6	Xp11.23	Rare Single Gene variant		1	6	Piton A , et al. 2012	Edit
GEN118	HEPACAM	hepatic and glial cell adhesion molecule	11q24.2	Syndromic		33	10	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	Yes	7	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		8	5	Kelleher RJ 3rd , et al. 2012	Edit
GEN122	HOXA1	homeobox A1	7p15.2	Genetic Association		19	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		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		1	8	Chakrabarti B , et al. 2009	Edit
GEN127	HTR1B	5-hydroxytryptamine (serotonin) receptor 1B	6q14.1	Genetic Association		2	6	Orabona GM , et al. 2008	Edit
GEN128	HTR2A	5-hydroxytryptamine (serotonin) receptor 2A	13q14.2	Genetic Association		12	10	Veenstra-VanderWeele J , et al. 2002	Edit
GEN130	HTR3C	5-hydroxytryptamine (serotonin) receptor 3, family member C	3q27.1	Genetic Association		8	6	Rehnstrm K , et al. 2008	Edit
GEN432	HUWE1	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	Xp11.22	Syndromic		35	14	Nava C , et al. 2012	Edit
GEN296	ICA1	islet cell autoantigen 1	7p21.3	Rare single gene variant		13	8	Salyakina D , et al. 2011	Edit
GEN133	IL1RAPL1	interleukin 1 receptor accessory protein-like 1	Xp21.3-p21.2	Rare single gene variant		23	22	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		3	4	Serajee FJ , et al. 2003	Edit
GEN137	ITGB3	integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	17q21.32	Genetic association		10	15	Weiss LA , et al. 2006	Edit
GEN790	JAKMIP1	Janus kinase and microtubule interacting protein 1	4p16.1	Functional		5	8	Berg JM , et al. 2015	Edit
GEN139	JMJD1C	jumonji domain containing 1C	10q21.3	Rare single gene variant		11	8	Castermans D , et al. 2007	Edit
GEN764	KAT2B	K(lysine) acetyltransferase 2B	3p24.3	Rare single gene variant		7	6	Sanders SJ , et al. 2015	Edit
GEN369	KATNAL2	Katanin p60 subunit A-like 2	18q21.1	Rare Single Gene variant		21	11	Sanders SJ , et al. 2012	Edit
GEN433	KCND2	potassium voltage-gated channel subfamily D member 2	7q31.31	Rare single gene variant		8	6	Connolly JJ , et al. 2012	Edit
GEN140	KCNJ10	potassium voltage-gated channel subfamily J member 10	1q23.2	Genetic Association		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		21	21	Laumonnier F , et al. 2006	Edit
GEN553	KCNQ2	potassium voltage-gated channel subfamily Q member 2	20q13.33	Genetic association		54	24	Jiang YH , et al. 2013	Edit
GEN536	KCNQ3	potassium voltage-gated channel subfamily Q member 3	8q24.22	Genetic association		22	9	Gilling M , et al. 2013	Edit
GEN434	KCNT1	potassium sodium-activated channel subfamily T member 1	9q34.3	Rare single gene variant		26	12	Heron SE , et al. 2012	Edit
GEN363	KCTD13	Potassium channel tetramerisation domain containing 13	16p11.2	Rare single gene variant		4	7	Golzio C , et al. 2012	Edit
GEN647	KDM5B	Lysine (K)-specific demethylase 5B	1q32.1	Rare single gene variant		41	13	Iossifov I , et al. 2014	Edit
GEN435	KDM5C	lysine demethylase 5C	Xp11.22	Syndromic		32	23	Adegbola A , et al. 2008	Edit
GEN648	KDM6B	Lysine (K)-specific demethylase 6B	17p13.1	Rare single gene variant		40	11	Iossifov I , et al. 2012	Edit
GEN294	KHDRBS2	KH domain containing, RNA binding, signal transduction associated 2	6q11.1	Rare Single Gene variant		5	3	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		16	4	Bucan M , et al. 2009	Edit
GEN389	KIF5C	Kinesin family member 5C	2q23.1-q23.2	Rare single gene variant		13	8	Awadalla P , et al. 2010	Edit
GEN388	KLC2	Kinesin light chain 2	11q13.2	Rare single gene variant		2	2	Awadalla P , et al. 2010	Edit
GEN700	KMT2A	Lysine (K)-specific methyltransferase 2A	11q23.3	Syndromic		90	20	De Rubeis S , et al. 2014	Edit
GEN659	KMT2C	Lysine (K)-specific methyltransferase 2C	7q36.1	Rare single gene variant		48	16	O'Roak BJ , et al. 2012	Edit
GEN636	KMT2E	Lysine (K)-specific methyltransferase 2E	7q22.3	Rare single gene variant		41	8	Dong S , et al. 2014	Edit
GEN586	KPTN	kaptin, actin binding protein	19q13.32	Syndromic		10	4	Baple EL , et al. 2013	Edit
GEN143	LAMB1	laminin, beta 1	7q31.1	Genetic Association		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		7	6	Wang K , et al. 2009	Edit
GEN362	LRP2	LDL receptor related protein 2	2q31.1	Rare single gene variant		47	12	Ionita-Laza I , et al. 2012	Edit
GEN436	LRPPRC	leucine rich pentatricopeptide repeat containing	2p21	Functional		2	3	Anitha A , et al. 2012	Edit
GEN146	LRRC1	leucine rich repeat containing 1	6p12.1	Genetic Association		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		15	19	Anney R , et al. 2010	Edit
GEN405	MAGED1	MAGE family member D1	Xp11.22	Functional		1	2	Dombret C , et al. 2012	Edit
GEN578	MAGEL2	MAGE-like 2	15q11.2	Syndromic		38	16	Schaaf CP , et al. 2013	Edit
GEN149	MAOA	monoamine oxidase A	Xp11.3	Genetic Association		13	15	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		1	2	Satoh Y , et al. 2011	Edit
GEN691	MAPK12	mitogen-activated protein kinase 12	22q13.33	Rare single gene variant		1	1	Li J , et al. 2015	Edit
GEN284	MAPK3	mitogen-activated protein kinase 3	16p11.2	Rare Single Gene variant		4	5	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		12	10	Maussion G , et al. 2008	Edit
GEN152	MBD1	methyl-CpG binding domain protein 1	18q21.1	Rare Single Gene variant		12	7	Li H , et al. 2005	Edit
GEN153	MBD3	methyl-CpG binding domain protein 3	19p13.3	Rare Single Gene variant, Genetic Association		18	4	Cukier HN , et al. 2009	Edit
GEN154	MBD4	methyl-CpG binding domain protein 4	3q21.3	Rare Single Gene variant, Genetic Association		12	7	Cukier HN , et al. 2009	Edit
GEN345	MBD5	Methyl-CpG binding domain protein 5	2q23.1	Rare single gene variant		114	33	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		16	16	Ozgen HM , et al. 2009	Edit
GEN156	MDGA2	MAM domain containing glycosylphosphatidylinositol anchor 2	14q21.3	Genetic Association		20	8	Bucan M , et al. 2009	Edit
GEN157	MECP2	Methyl CpG binding protein 2	Xq28	Syndromic		177	81	Amir RE , et al. 1999	Edit
GEN649	MED13L	Mediator complex subunit 13-like	12q24.21	Rare single gene variant		92	32	Iossifov I , et al. 2012	Edit
GEN159	MEF2C	myocyte enhancer factor 2C	5q14.3	Rare Single Gene variant	Yes	60	34	Novara F , et al. 2010	Edit
GEN160	MET	met proto-oncogene (hepatocyte growth factor receptor)	7q31.2	Genetic Association		24	37	Campbell DB , et al. 2006	Edit
GEN660	MIB1	Mindbomb E3 ubiquitin protein ligase 1	18q11.2	Rare single gene variant		26	7	De Rubeis S , et al. 2014	Edit
GEN379	MSN	Moesin	Xq12	Functional		0	1	Kerin T , et al. 2012	Edit
GEN335	MSR1	macrophage scavenger receptor 1	8p22	Rare Single Gene variant		5	3	O'Roak BJ , et al. 2012	Edit
GEN162	MTF1	metal-regulatory transcription factor 1	1p34.3	Genetic Association		2	4	Serajee FJ , et al. 2004	Edit
GEN785	MTOR	Mechanistic target of rapamycin (serine/threonine kinase)	1p36.22	Rare single gene variant		30	18	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		56	13	De Rubeis S , et al. 2014	Edit
GEN166	NBEA	neurobeachin	13q13.3	Rare single gene variant		32	19	Castermans D , et al. 2003	Edit
GEN650	NCKAP1	NCK-associated protein 1	2q32.1	Rare single gene variant		7	8	Iossifov I , et al. 2012	Edit
GEN350	NCKAP5L	NCK-associated protein 5-like	12q13.12	Rare single gene variant	Yes	7	2	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		15	24	Marui T , et al. 2004	Edit
GEN766	NINL	Ninein-like	20p11.21	Rare single gene variant		5	6	Sanders SJ , et al. 2015	Edit
GEN278	NIPBL	Nipped-B homolog (Drosophila)	5p13.2	Syndromic		18	13	Krantz ID , et al. 2004	Edit
GEN170	NLGN1	neuroligin 1	3q26.31	Genetic Association		13	17	Glessner JT , et al. 2009	Edit
GEN627	NLGN2	Neuroligin 2	17p13.1	Rare single gene variant		5	8	Whr M , et al. 2012	Edit
GEN171	NLGN3	neuroligin 3	Xq13.1	Rare Single Gene variant		33	34	Jamain S , et al. 2003	Edit
GEN172	NLGN4X	neuroligin 4, X-linked	Xp22.32-p22.31	Rare Single Gene variant		42	33	Jamain S , et al. 2003	Edit
GEN694	NOS1	nitric oxide synthase 1	12q24.22	Rare single gene variant		2	2	Li J , et al. 2015	Edit
GEN174	NOS1AP	nitric oxide synthase 1 (neuronal) adaptor protein	1q23.3	Rare single Gene variant		2	6	Delorme R , et al. 2010	Edit
GEN175	NOS2	nitric oxide synthase 2	17q11.2	Genetic Association		5	7	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		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		4	8	Wu S , et al. 2007	Edit
GEN179	NRXN1	neurexin 1	2p16.3	Rare Single Gene variant	Yes	289	82	Feng J , et al. 2006	Edit
GEN271	NRXN2	neurexin 2	11q13.1	Rare Single Gene variant		20	11	Gauthier J , et al. 2011	Edit
GEN305	NRXN3	neurexin 3	14q24.3-q31.1	Rare Single Gene variant		26	18	Vaags AK , et al. 2012	Edit
GEN279	NSD1	nuclear receptor binding SET domain protein 1	5q35.3	Syndromic		29	16	Kurotaki N , et al. 2002	Edit
GEN180	NTNG1	netrin G1	1p13.3	Syndromic		5	8	Borg I , et al. 2005	Edit
GEN181	NTRK1	neurotrophic tyrosine kinase, receptor, type 1	1q23.1	Rare Single Gene variant		13	8	Chakrabarti B , et al. 2009	Edit
GEN182	NTRK3	neurotrophic tyrosine kinase, receptor, type 3	15q25.3	Rare Single Gene variant, Genetic Association		9	13	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		3	4	Howerton CL , et al. 2013	Edit
GEN184	OPHN1	oligophrenin 1	Xq12	Rare Single Gene variant		17	15	Piton A , et al. 2010	Edit
GEN186	OR1C1	olfactory receptor, family 1, subfamily C, member 1	1q44	Rare Single Gene variant		5	3	Bucan M , et al. 2009	Edit
GEN1005	OTUD7A	OTU deubiquitinase 7A	15q13.3	Multigenic CNV		2	4	Uddin M , et al. 2018	Edit
GEN828	OXT	oxytocin/neurophysin I prepropeptide	20p13	Genetic association		9	5	Ebstein RP , et al. 2009	Edit
GEN187	OXTR	oxytocin receptor	3p25.3	Genetic Association		51	44	Wu S , et al. 2005	Edit
GEN630	PAFAH1B1	Platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)	17p13.3	Functional		0	2	Sudarov A , et al. 2013	Edit
GEN527	PAH	Phenylalanine hydroxylase	12q23.2	Rare single gene variant	Yes	12	7	Yu TW , et al. 2013	Edit
GEN743	PAX6	Paired box 6	11p13	Multigenic CNV		4	7	Umeda T , et al. 2011	Edit
GEN189	PCDH10	protocadherin 10	4q28.3	Rare Single Gene variant		4	8	Morrow EM , et al. 2008	Edit
GEN190	PCDH19	protocadherin 19	Xq22.1	Syndromic		213	34	Piton A , et al. 2010	Edit
GEN191	PCDH9	protocadherin 9	13q21.32	Rare Single Gene variant		10	7	Marshall CR , et al. 2008	Edit
GEN342	PCDHGA11	protocadherin gamma subfamily A, 11	5q31.3	Rare Single Gene variant		2	2	Sato D , et al. 2012	Edit
GEN193	PER1	period homolog 1 (Drosophila)	17p13.1	Genetic Association		9	7	Nicholas B , et al. 2007	Edit
GEN651	PHF2	PHD finger protein 2	9q22.31	Rare single gene variant		7	5	Iossifov I , et al. 2012	Edit
GEN456	PHF8	PHD finger protein 8	Xp11.22	Syndromic		8	8	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		9	6	Philippi A , et al. 2007	Edit
GEN371	PLAUR	Plasminogen activator, urokinase receptor	19q13.31	Genetic association		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		3	4	Prasad A , et al. 2013	Edit
GEN368	POGZ	Pogo transposable element with ZNF domain	1q21.3	Rare single gene variant		83	30	Neale BM , et al. 2012	Edit
GEN528	POMGNT1	protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)	1p34.1	Syndromic	Yes	7	5	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		7	3	Belinson H , et al. 2016	Edit
GEN512	PPFIA1	PTPRF interacting protein alpha 1	11q13.3	Rare single gene variant		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		8	2	Li J , et al. 2015	Edit
GEN588	PRICKLE1	Prickle homolog 1 (Drosophila)	12q12	Syndromic		8	4	Paemka L , et al. 2013	Edit
GEN545	PRICKLE2	prickle planar cell polarity protein 2	3p14.1	Rare single gene variant/multigenic CNV		8	4	Sowers LP , et al. 2013	Edit
GEN201	PRKCB	protein kinase C beta	16p12.2-p12.1	Genetic Association		5	6	Philippi A , et al. 2005	Edit
GEN329	PSD3	pleckstrin and Sec7 domain containing 3	8p22	Rare Single Gene variant		8	5	Pinto D , et al. 2010	Edit
GEN203	PTCHD1	patched domain containing 1	Xp22.11	Rare Single Gene variant		54	11	Marshall CR , et al. 2008	Edit
GEN204	PTEN	phosphatase and tensin homolog (mutated in multiple advanced cancers 1)	10q23.31	Syndromic		105	61	Goffin A , et al. 2001	Edit
GEN205	PTGS2	prostaglandin-endoperoxide synthase 2	1q31.1	Genetic Association		2	7	Yoo HJ , et al. 2008	Edit
GEN769	PTK7	Protein tyrosine kinase 7 (inactive)	6p21.1	Rare single gene variant		5	4	Sanders SJ , et al. 2015	Edit
GEN277	PTPN11	protein tyrosine phosphatase, non-receptor type 11	12q24.13	Syndromic		30	16	Tartaglia M , et al. 2001	Edit
GEN534	PXDN	peroxidasin	2p25.3	Multigenic CNV		7	5	Meyer KJ , et al. 2011	Edit
GEN207	RAB39B	RAB39B, member RAS oncogene family	Xq28	Rare Single Gene variant		12	12	Giannandrea M , et al. 2010	Edit
GEN208	RAI1	retinoic acid induced 1	17p11.2	Syndromic		14	21	Nakamine A , et al. 2007	Edit
GEN209	RAPGEF4	Rap guanine nucleotide exchange factor (GEF) 4	2q31.1	Rare Single Gene variant, Genetic Association		9	17	Bacchelli E , et al. 2003	Edit
GEN394	RASSF5	Ras association domain family member 5	1q32.1	Genetic association		3	3	Anney R , et al. 2012	Edit
GEN210	RB1CC1	RB1-inducible coiled-coil 1	8q11.23	Rare Single Gene variant		7	5	Marshall CR , et al. 2008	Edit
GEN001	RBFOX1	RNA binding protein, fox-1 homolog (C. elegans) 1	16p13.3	Genetic Association		71	34	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		120	52	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		13	7	Dong S , et al. 2014	Edit
GEN217	RIMS3	regulating synaptic membrane exocytosis 3	1p34.2	Rare single gene variant		7	4	Kumar RA , et al. 2009	Edit
GEN218	ROBO1	roundabout, axon guidance receptor, homolog 1 (Drosophila)	3p12.3	Functional		10	12	Hu VW , et al. 2006	Edit
GEN493	ROBO2	roundabout guidance receptor 2	3p12.3	Functional		8	8	Prasad A , et al. 2013	Edit
GEN220	RPL10	ribosomal protein L10	Xq28	Rare single gene variant		7	13	Klauck SM , et al. 2006	Edit
GEN221	RPS6KA2	ribosomal protein S6 kinase, 90kDa, polypeptide 2	6q27	Rare Single Gene variant		2	4	Marshall CR , et al. 2008	Edit
GEN346	SATB2	SATB homeobox 2	2q33.1	Syndromic		164	28	Talkowski ME , et al. 2012	Edit
GEN473	SBF1	SET binding factor 1	22q13.33	Rare Single Gene variant		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		174	59	Weiss LA , et al. 2003	Edit
GEN224	SCN2A	sodium channel, voltage-gated, type II, alpha subunit	2q24.3	Rare Single Gene variant		222	62	Weiss LA , et al. 2003	Edit
GEN695	SCN5A	sodium voltage-gated channel alpha subunit 5	3p22.2	Rare single gene variant		4	3	Li J , et al. 2015	Edit
GEN327	SCN8A	sodium channel, voltage gated, type VIII, alpha subunit	12q13.13	Rare single gene variant		146	34	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		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		33	13	O'Roak BJ , et al. 2012	Edit
GEN474	SETD2	SET domain containing 2	3p21.31	Rare Single Gene variant		18	12	O'Roak BJ , et al. 2012	Edit
GEN607	SETD5	SET domain containing 5	3p25.3	Rare Single Gene variant		72	24	Grozeva D , et al. 2014	Edit
GEN227	SEZ6L2	SEZ6L2 seizure related 6 homolog (mouse)-like 2	16p11.2	Rare Single Gene variant		6	6	Kumar RA , et al. 2009	Edit
GEN228	SH3KBP1	SH3-domain kinase binding protein 1	Xp22.12	Rare Single Gene variant		1	4	Piton A , et al. 2010	Edit
GEN340	SHANK1	SH3 and multiple ankyrin repeat domains 1	19q13.33	Rare Single Gene variant		36	8	Sato D , et al. 2012	Edit
GEN229	SHANK2	SH3 and multiple ankyrin repeat domains 2	11q13.3-q13.4	Rare Single Gene variant		83	34	Berkel S , et al. 2010	Edit
GEN230	SHANK3	SH3 and multiple ankyrin repeat domains 3	22q13.33	Rare Single Gene variant		284	81	Durand CM , et al. 2006	Edit
GEN837	SIN3A	SIN3 transcription regulator family member A	15q24.2	Rare single gene variant		16	8	Witteveen JS , et al. 2016	Edit
GEN783	SLC12A5	Solute carrier family 12 (potassium/chloride transporter), member 5	20q13.12	Rare single gene variant		13	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		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		16	21	Ramoz N , et al. 2004	Edit
GEN270	SLC38A10	solute carrier family 38, member 10	17q25.3	Rare Single Gene variant		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		13	15	Hamilton PJ , et al. 2013	Edit
GEN235	SLC6A4	solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	17q11.2	Genetic Association		49	26	Cook EH Jr , et al. 1997	Edit
GEN236	SLC6A8	solute carrier family 6 (neurotransmitter transporter, creatine), member 8	Xq28	Rare Single Gene variant		15	13	Po-Argelles P , et al. 2006	Edit
GEN237	SLC9A6	solute carrier family 9 (sodium/hydrogen exchanger), member 6	Xq26.3	Syndromic		26	15	Garbern JY , et al. 2010	Edit
GEN238	SLC9A9	solute carrier family 9 (sodium/hydrogen exchanger), member 9	3q24	Rare Single Gene variant		18	12	Morrow EM , et al. 2008	Edit
GEN597	SLIT3	slit guidance ligand 3	5q34-q35.1	Multigenic CNV		4	3	Cukier HN , et al. 2014	Edit
GEN558	SLITRK5	SLIT and NTRK like family member 5	13q31.2	Functional		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		22	16	Wolff D , et al. 2012	Edit
GEN520	SMG6	SMG6, nonsense mediated mRNA decay factor	17p13.3	Multigenic CNV		3	2	Nguyen LS , et al. 2013	Edit
GEN701	SNAP25	Synaptosomal-associated protein, 25kDa	20p12.2	Genetic association		5	6	Braida D , et al. 2015	Edit
GEN239	SND1	staphylococcal nuclease and tudor domain containing 1	7q32.1	Genetic Association		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		5	6	Rosenfeld JA , et al. 2010	Edit
GEN717	SNX14	Sorting nexin 14	6q14.3	Syndromic		22	6	Akizu N , et al. 2015	Edit
GEN604	SOD1	superoxide dismutase 1	21q22.11	Functional		2	2	Kova J , et al. 2013	Edit
GEN366	SOX5	SRY-box 5	12p12.1	Rare single gene variant		60	14	Rosenfeld JA , et al. 2010	Edit
GEN793	SPARCL1	SPARC like 1	4q22.1	Functional		14	3	De Rubeis S , et al. 2014	Edit
GEN671	SRRM4	Serine/arginine repetitive matrix 4	12q24.23	Functional		1	5	Irimia M , et al. 2014	Edit
GEN240	ST7	suppression of tumorigenicity 7	7q31.2	Rare Single Gene variant		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		9	6	Nakamura K , et al. 2008	Edit
GEN242	SUCLG2	succinate-CoA ligase, GDP-forming, beta subunit	3p14.1	Rare Single Gene variant		5	5	Bucan M , et al. 2009	Edit
GEN243	SYN1	Synapsin 1	Xp11.3-p11.23	Rare Single Gene variant		12	19	Fassio A , et al. 2011	Edit
GEN564	SYN3	Synapsin III	22q12.3	Functional		2	3	Greco B , et al. 2013	Edit
GEN244	SYNE1	spectrin repeat containing, nuclear envelope 1	6q25.2	Rare Single Gene variant		22	16	O'Roak BJ , et al. 2011	Edit
GEN245	SYNGAP1	synaptic Ras GTPase activating protein 1	6p21.32	Rare Single Gene variant		162	54	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		1	1	Sato D , et al. 2012	Edit
GEN792	TAF1	TATA-box binding protein associated factor 1	Xq13.1	Rare single gene variant		41	5	O'Rawe JA , et al. 2015	Edit
GEN248	TBC1D5	TBC1 domain family, member 5	3p24.3	Rare Single Gene variant		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		26	20	O'Roak BJ , et al. 2012	Edit
GEN477	TBR1	T-box, brain, 1	2q24.2	Rare Single Gene variant		31	26	O'Roak BJ , et al. 2012	Edit
GEN592	TCF4	Transcription factor 4	18q21.2	Syndromic		45	44	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	3	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	Iossifov I , et al. 2014	Edit
GEN251	TH	tyrosine hydroxylase	11p15.5	Genetic Association		4	18	Comings DE , et al. 1995	Edit
GEN421	THRA	thyroid hormone receptor alpha	17q21.1	Functional		3	5	Pilhatsch M , et al. 2010	Edit
GEN252	TLK2	tousled-like kinase 2	17q23.2	Rare Single Gene variant		46	14	O'Roak BJ , et al. 2011	Edit
GEN269	TMLHE	trimethyllysine hydroxylase, epsilon	Xq28	Rare Single Gene variant		10	5	Celestino-Soper PB , et al. 2011	Edit
GEN653	TNRC6B	Trinucleotide repeat containing 6B	22q13.1	Rare single gene variant		8	7	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		3	7	King IF , et al. 2013	Edit
GEN561	TOP3B	Topoisomerase (DNA) III beta	22q11.22	Rare single gene variant		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		67	24	De Rubeis S , et al. 2014	Edit
GEN354	TRIP12	Thyroid hormone receptor interactor 12	2q36.3	Rare single gene variant	Yes	41	16	Chahrour MH , et al. 2012	Edit
GEN666	TRPC6	Transient receptor potential cation channel, subfamily C, member 6	11q22.1	Rare single gene variant/functional		12	3	Griesi-Oliveira K , et al. 2014	Edit
GEN255	TSC1	tuberous sclerosis 1	9q34.13	Rare Single Gene variant		36	20	Smalley SL 1998	Edit
GEN256	TSC2	tuberous sclerosis 2	16p13.3	Genetic Association		78	30	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		8	7	Piton A , et al. 2010	Edit
GEN565	TTI2	TELO2 interacting protein 2	8p12	Rare single gene variant		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		21	27	Nurmi EL , et al. 2001	Edit
GEN351	UBE3B	ubiquitin protein ligase E3B	12q24.11	Rare single gene variant	Yes	17	7	Chahrour MH , et al. 2012	Edit
GEN478	UBE3C	Ubiquitin protein ligase E3C	7q36.3	Rare Single Gene variant		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		6	7	Kato T , et al. 2012	Edit
GEN364	UPF3B	UPF3B, regulator of nonsense mediated mRNA decay	Xq24	Syndromic		25	13	Tarpey PS , et al. 2007	Edit
GEN758	USP7	Ubiquitin specific peptidase 7 (herpes virus-associated)	16p13.2	Rare single gene variant		29	7	Hao YH , et al. 2015	Edit
GEN263	VASH1	vasohibin 1	14q24.3	Genetic Association		2	4	Wang K , et al. 2009	Edit
GEN554	VIP	vasoactive intestinal peptide	6q25.2	Functional		2	6	Hill JM , et al. 2007	Edit
GEN281	VPS13B	vacuolar protein sorting 13 homolog B (yeast)	8q22.2	Syndromic	Yes	67	20	Kolehmainen J , et al. 2003	Edit
GEN654	WAC	WW domain containing adaptor with coiled-coil	10p12.1	Syndromic		30	17	Iossifov I , et al. 2014	Edit
GEN635	WDFY3	WD repeat and FYVE domain containing 3	4q21.23	Rare Single Gene variant		56	17	Iossifov I , et al. 2012	Edit
GEN264	WNK3	WNK lysine deficient protein kinase 3	Xp11.22	Rare Single Gene variant		1	6	Piton A , et al. 2010	Edit
GEN267	XPC	xeroderma pigmentosum, complementation group C	3p25.1	Rare Single Gene variant		4	11	Khan SG , et al. 1998	Edit
GEN377	XPO1	Exportin 1 (CRM1 homolog, yeast)	2p15	Genetic association		7	6	Liu X , et al. 2011	Edit
GEN339	YTHDC2	YTH domain containing 2	5q22.2	Rare Single Gene variant		5	5	O'Roak BJ , et al. 2012	Edit
GEN501	YWHAE	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon	17p13.3	Multigenic CNV		3	5	Prasad A , et al. 2013	Edit
GEN619	ZBTB20	Zinc finger and BTB domain containing 20	3q13.31	Multigenic CNV		37	22	Cordeddu V , et al. 2014	Edit
GEN641	ZMYND11	Zinc finger, MYND-type containing 11	10p15.3	Rare single gene variant		13	10	Iossifov I , et al. 2012	Edit
GEN352	ZNF18	zinc finger protein 18	17p12	Rare single gene variant	Yes	4	1	Chahrour MH , et al. 2012	Edit
GEN398	ZNF827	Zinc finger protein 827	4q31.21-q31.22	Genetic association		1	1	Anney R , et al. 2012	Edit

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