Human Gene Search Results

	Unique ID	Gene Symbol	Gene Name	Chromosome Loc	Genetic Category	Gene Ranking	Biallelic	# of Variants	Associated Disorders	# of Reports	Primary Reference	Display
	GEN590	ABCA7	ATP-binding cassette, sub-family A (ABC1), member 7	19p13.3	Rare single gene variant	3		14		4	He Z , et al. 2013	Edit
	GEN672	ACTN4	actinin alpha 4	19q13.2	Rare single gene variant	2		3		4	Li J , et al. 2015	Edit
	GEN609	ANXA1	Annexin A1	9q21.13	Rare single gene variant	2		12		2	Correia CT , et al. 2014	Edit
	GEN1148	AP2S1	adaptor related protein complex 2 subunit sigma 1	19q13.32	Rare single gene variant	2		2		2	Iossifov I et al. 2014	Edit
	GEN713	ARHGAP33	Rho GTPase activating protein 33	19q13.12	Functional	2		2		3	Schuster S , et al. 2015	Edit
	GEN019	ASS1	argininosuccinate synthetase	9q34.11	Functional			0		3	Hu VW , et al. 2006	Edit
	GEN020	ASTN2	astrotactin 2	9q33.1	Rare Single Gene variant	2		34		16	Glessner JT , et al. 2009	Edit
	GEN829	ATP1A3	ATPase Na+/K+ transporting subunit alpha 3	19q13.2	Syndromic	3		35		18	Demos MK , et al. 2014	Edit
	GEN1224	BICRA	BRD4 interacting chromatin remodeling complex associated protein	19q13.33	Syndromic	3		12		1	Barish S et al. 2020	Edit
	GEN970	BRD4	bromodomain containing 4	19p13.12	Rare single gene variant	2		7		4	Iossifov I , et al. 2012	Edit
	GEN820	BRINP1	BMP/retinoic acid inducible neural specific 1	9q33.1	Functional			0		2	Kobayashi M , et al. 2014	Edit
	GEN707	CACNA1A	Calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	19p13.13	Rare single gene variant	3		29		21	Damaj L , et al. 2015	Edit
	GEN408	CACNA1B	calcium voltage-gated channel subunit alpha1 B	9q34.3	Genetic association	2		23		9	Yatsenko SA , et al. 2012	Edit
	GEN772	CAPN12	Calpain 12	19q13.2	Rare single gene variant	3		36		6	Sanders SJ , et al. 2015	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
	GEN1110	CCIN	calicin	9p13.3	Rare single gene variant	2		2		2	De Rubeis S , et al. 2014	Edit
	GEN882	CIC	capicua transcriptional repressor	19q13.2	Rare single gene variant	4		15		7	Iossifov I et al. 2014	Edit
	GEN866	CNOT3	CCR4-NOT transcription complex subunit 3	19q13.42	Rare single gene variant	4		28		11	et al. 2017	Edit
	GEN307	CNTNAP3	contactin associated protein-like 3	9p12	Rare Single Gene variant	3		8		6	Vaags AK , et al. 2012	Edit
	GEN801	CYLC2	cylicin, basic protein of sperm head cytoskeleton 2	9q31.1	Rare single gene variant			2		3	Levy D , et al. 2011	Edit
	GEN058	DAPK1	death-associated protein kinase 1	9q21.33	Functional	2		4		5	Hu VW , et al. 2006	Edit
	GEN071	DMPK	dystrophia myotonica-protein kinase	19q13.32	Syndromic	2		12		10	Ekstrm AB , et al. 2008	Edit
	GEN1120	DMWD	DM1 locus, WD repeat containing	19q13.32	Rare single gene variant	2		2		2	C Yuen RK et al. 2017	Edit
	GEN853	DOCK8	dedicator of cytokinesis 8	9p24.3	Rare single gene variant	3		30		11	De Rubeis S , et al. 2014	Edit
	GEN557	DOLK	dolichol kinase	9q34.11	Syndromic		Yes	2		2	Helander A , et al. 2013	Edit
	GEN344	EHMT1	Euchromatic histone-lysine N-methyltransferase 1	9q34.3	Syndromic	3		36		29	Talkowski ME , et al. 2012	Edit
	GEN808	EIF3G	eukaryotic translation initiation factor 3 subunit G	19p13.2	Rare single gene variant	3		6		4	Iossifov I , 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
	GEN753	ELAVL3	ELAV like neuron-specific RNA binding protein 3	19p13.2	Rare single gene variant	3		4		5	Iossifov I et al. 2014	Edit
	GEN1270	EPS15L1	epidermal growth factor receptor pathway substrate 15 like 1	19p13.11	Rare single gene variant	2		3		1	Wilfert AB et al. 2021	Edit
	GEN658	ETFB	Electron-transfer-flavoprotein, beta polypeptide	19q13.41	Rare single gene variant	2		11		4	O'Roak BJ , et al. 2012	Edit
	GEN1099	FAM98C	family with sequence similarity 98 member C	19q13.2	Rare single gene variant	2		3		2	De Rubeis S , et al. 2014	Edit
	GEN1198	FXN	frataxin	9q21.11	Rare single gene variant	0		8		1	Trost B et al. 2020	Edit
	GEN1010	GABBR2	gamma-aminobutyric acid type B receptor subunit 2	9q22.33	Functional	4		11		12	EuroEPINOMICS-RES Consortium , et al. 2014	Edit
	GEN742	GADD45B	Growth arrest and DNA-damage-inducible, beta	19p13.3	Functional	2		1		4	Garbett K , et al. 2008	Edit
	GEN682	GDA	guanine deaminase	9q21.13	Rare single gene variant	0		2		2	Li J , et al. 2015	Edit
	GEN347	GNA14	Guanine nucleotide binding protein (G protein), alpha 14	9q21.2	Rare Single Gene variant			1		1	Talkowski ME , et al. 2012	Edit
	GEN722	GRIK5	Glutamate receptor, ionotropic, kainate 5	19q13.2	Rare single gene variant	3		10		9	De Rubeis S , et al. 2014	Edit
	GEN626	GRIN1	Glutamate receptor, ionotropic, N-methyl D-aspartate 1	9q34.3	Functional	3	Yes	48		18	Gandal MJ , et al. 2012	Edit
	GEN387	GSN	gelsolin	9q33.2	Rare single gene variant	2		3		2	Awadalla P , et al. 2010	Edit
	GEN1247	HNRNPK	heterogeneous nuclear ribonucleoprotein K	9q21.32	Syndromic	3		32		11	Gillentine MA et al. 2021	Edit
	GEN530	KANK1	KN motif and ankyrin repeat domains 1	9p24.3	Rare single gene variant	2		15		10	Vanzo RJ , et al. 2013	Edit
	GEN434	KCNT1	potassium sodium-activated channel subfamily T member 1	9q34.3	Rare single gene variant	0		29		15	Heron SE , et al. 2012	Edit
	GEN819	KDM4B	lysine demethylase 4B	19p13.3	Rare single gene variant	3		20		5	De Rubeis S , et al. 2014	Edit
	GEN1043	KDM4C	lysine demethylase 4C	9p24.1	Rare single gene variant	2		13		3	Kushima I , et al. 2018	Edit
	GEN920	KLF16	Kruppel like factor 16	19p13.3	Rare single gene variant	2		2		1	Lim ET , et al. 2017	Edit
	GEN586	KPTN	kaptin, actin binding protein	19q13.32	Syndromic	2		13		6	Baple EL , et al. 2013	Edit
	GEN144	LAMC3	laminin, gamma 3	9q34.12	Rare Single Gene variant	3		24		10	O'Roak BJ , et al. 2011	Edit
	GEN1208	LDLR	low density lipoprotein receptor	19p13.2	Rare single gene variant	2		3		1	Luo Y et al. 2020	Edit
	GEN968	LILRB2	leukocyte immunoglobulin like receptor B2	19q13.42	Rare single gene variant	2		7		2	Krumm N , et al. 2015	Edit
	GEN632	LIN7B	lin-7 homolog B, crumbs cell polarity complex component	19q13.33	Multigenic CNV/rare single gene variant	2		2		2	Mizuno M , et al. 2014	Edit
	GEN272	LMX1B	LIM homeobox transcription factor 1 beta	9q33.3	Genetic association/Functional			2		1	Thanseem I , et al. 2011	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
	GEN846	MBOAT7	membrane bound O-acyltransferase domain containing 7	19q13.42	Rare single gene variant	2	Yes	36		12	Johansen A , et al. 2016	Edit
	GEN1100	MLANA	melan-A	9p24.1	Rare single gene variant	2		2		3	Iossifov I et al. 2014	Edit
	GEN661	MYO9B	Myosin IXB	19p13.11	Rare single gene variant	3		28		4	De Rubeis S , et al. 2014	Edit
	GEN868	NACC1	nucleus accumbens associated 1	19p13.13	Rare single gene variant	2		13		7	Schoch K , et al. 2017	Edit
	GEN1047	NFIB	nuclear factor I B	9p23-p22.3	Rare single gene variant	3		17		5	Iossifov I et al. 2014	Edit
	GEN805	NFIX	nuclear factor I/X (CCAAT-binding transcription factor)	19p13.13	Syndromic	0		63		11	Malan V , et al. 2010	Edit
	GEN1172	NOVA2	NOVA alternative splicing regulator 2	19q13.32	Syndromic	3		6		1	Mattioli F et al. 2020	Edit
	GEN1009	NR1H2	nuclear receptor subfamily 1 group H member 2	19q13.33	Functional	0		1		2	Cai Y , et al. 2018	Edit
	GEN1117	NTNG2	netrin G2	9q34.13	Syndromic		Yes	13		3	Abu-Libdeh B , et al. 2019	Edit
	GEN986	NTRK2	neurotrophic receptor tyrosine kinase 2	9q21.33	Syndromic	2		12		3	Hamdan FF , et al. 2017	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
	GEN667	PAX5	Paired box 5	9p13.2	Rare Single Gene variant	4		14		8	Iossifov I , et al. 2012	Edit
	GEN311	PDE4A	phosphodiesterase 4A	19p13.2	Functional			1		2	Braun NN , et al. 2007	Edit
	GEN859	PGLYRP2	peptidoglycan recognition protein 2	19p13.12	Rare single gene variant	2		3		4	Arentsen T , et al. 2016	Edit
	GEN651	PHF2	PHD finger protein 2	9q22.31	Rare single gene variant	3		8		7	Iossifov I , et al. 2012	Edit
	GEN552	PIK3R2	phosphoinositide-3-kinase regulatory subunit 2	19p13.11	Syndromic	2		7		5	Rivire JB , et al. 2012	Edit
	GEN371	PLAUR	Plasminogen activator, urokinase receptor	19q13.31	Genetic association	2		2		2	Campbell DB , et al. 2009	Edit
	GEN1015	PNPLA7	patatin like phospholipase domain containing 7	9q34.3	Rare single gene variant	2		5		3	O'Roak BJ , et al. 2012	Edit
	GEN942	POMT1	protein O-mannosyltransferase 1	9q34.13	Rare single gene variant	2		16		3	Krumm N , et al. 2015	Edit
	GEN1161	PPP5C	protein phosphatase 5 catalytic subunit	19q13.32	Rare single gene variant	2		3		2	Iossifov I et al. 2014	Edit
	GEN1128	PRKD2	protein kinase D2	19q13.32	Rare single gene variant	3		2		3	De Rubeis S , et al. 2014	Edit
	GEN1008	PRR12	proline rich 12	19q13.33	Syndromic	4		7		3	Leduc MS , et al. 2018	Edit
	GEN310	PRUNE2	prune homolog 2	9q21.2	Rare Single Gene variant	3		11		9	Vaags AK , et al. 2012	Edit
	GEN940	RFX3	regulatory factor X3	9p24.2	Rare single gene variant	4		23		8	De Rubeis S , et al. 2014	Edit
	GEN960	RNF38	ring finger protein 38	9p13.2	Rare single gene variant	2		2		2	Sanders SJ , et al. 2012	Edit
	GEN1138	RORB	RAR related orphan receptor B	9q21.13	Functional	3		10		7	Iossifov I et al. 2014	Edit
	GEN1265	RUSC2	RUN and SH3 domain containing 2	9p13.3	Rare single gene variant	3		10		4	Wilfert AB et al. 2021	Edit
	GEN503	SAE1	SUMO1 activating enzyme subunit 1	19q13.32	Rare single gene variant			6		3	Prasad A , et al. 2013	Edit
	GEN1057	SET	SETnuclear proto-oncogene	9q34.11	Rare single gene variant	3		11		5	C Yuen RK et al. 2017	Edit
	GEN340	SHANK1	SH3 and multiple ankyrin repeat domains 1	19q13.33	Rare Single Gene variant	4		42		9	Sato D , et al. 2012	Edit
	GEN1242	SIN3B	SIN3 transcription regulator family member B	19p13.11	Rare single gene variant	3		12		4	Iossifov I et al. 2014	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
	GEN506	SLC24A2	solute carrier family 24 member 2	9p22.1	Rare single gene variant	2		2		3	Prasad A , et al. 2013	Edit
	GEN784	SLC27A4	Solute carrier family 27 (fatty acid transporter), member 4	9q34.11	Rare single gene variant, genetic association	2		3		1	Maekawa M , et al. 2015	Edit
	GEN731	SMARCA2	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	9p24.3	Genetic association/functional	3		25		19	Wolff D , et al. 2012	Edit
	GEN923	SMARCA4	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	19p13.2	Syndromic	3		28		10	De Rubeis S , et al. 2014	Edit
	GEN390	STXBP1	Syntaxin binding protein 1	9q34.11	Syndromic	4		179		50	Campbell IM , et al. 2012	Edit
	GEN341	SYT3	synaptotagmin 3	19q13.33	Rare Single Gene variant			1		1	Sato D , et al. 2012	Edit
	GEN247	TAF1L	TAF1 RNA polymerase II	9p21.1	Rare Single Gene variant	2		2		4	O'Roak BJ , et al. 2011	Edit
	GEN1168	TEK	TEKreceptortyrosine kinase	9p21.2	Rare single gene variant	2		1		1	Satterstrom FK et al. 2020	Edit
	GEN696	THAP8	THAP domain containing 8	19q13.12	Rare single gene variant	2		1		1	Li J , et al. 2015	Edit
	GEN1262	TNPO2	transportin 2	19p13.13	Rare single gene variant	3		18		3	Goodman LD et al. 2021	Edit
	GEN1142	TRIM32	tripartite motif containing 32	9q33.1	Rare single gene variant/multigenic CNV	0		30		3	Zhu JW , et al. 2019	Edit
	GEN255	TSC1	tuberous sclerosis 1	9q34.13	Rare Single Gene variant	4		40		23	Smalley SL 1998	Edit
	GEN850	TSHZ3	teashirt zinc finger homeobox 3	19	Rare single gene variant	0		7		3	Caubit X , et al. 2016	Edit
	GEN869	UNC13A	unc-13 homolog A	19p13.11	Rare single gene variant	3		10		8	Lipstein N , et al. 2017	Edit
	GEN787	VLDLR	Very low density lipoprotein receptor	9p24.2	Functional			0		3	Fatemi SH , et al. 2005	Edit
	GEN978	VRK3	vaccinia related kinase 3	19q13.33	Functional			0		1	Kang MS , et al. 2017	Edit
	GEN875	ZC3H4	zinc finger CCCH-type containing 4	19q13.32	Rare single gene variant	3		22		4	Iossifov I et al. 2014	Edit
	GEN729	ZNF462	Zinc finger protein 462	9q31.2	Rare single gene variant	3		28		10	De Rubeis S , et al. 2014	Edit
	GEN965	ZNF548	zinc finger protein 548	19q13.43	Rare single gene variant	2		10		3	Krumm N , et al. 2015	Edit
	GEN773	ZNF559	Zinc finger protein 559	19p13.2	Rare single gene variant	3		25		6	Sanders SJ , et al. 2015	Edit
	GEN944	ZNF626	zinc finger protein 626	19p12	Rare single gene variant	2		26		2	Krumm N , et al. 2015	Edit

CNV Search Results

PIN Search Results