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
	GEN1447	ABCA2	ATP binding cassette subfamily A member 2	9q34.3	Rare single gene variant	3		18		8	Yasser Al-Sarraj et al. 2024	Edit
	GEN590	ABCA7	ATP-binding cassette, sub-family A (ABC1), member 7	19p13.3	Rare single gene variant	3		20		6	He Z , et al. 2013	Edit
	GEN672	ACTN4	actinin alpha 4	19q13.2	Rare single gene variant	2		8		7	Li J , et al. 2015	Edit
	GEN1340	ADGRL1	adhesion G protein-coupled receptor L1	19p13.12	Rare single gene variant	3		13		5	De Rubeis S , et al. 2014	Edit
	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		4		5	Iossifov I et al. 2014	Edit
	GEN713	ARHGAP33	Rho GTPase activating protein 33	19q13.12	Functional	2		8		5	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		40		24	Glessner JT , et al. 2009	Edit
	GEN829	ATP1A3	ATPase Na+/K+ transporting subunit alpha 3	19q13.2	Syndromic	3		67		27	Demos MK , et al. 2014	Edit
	GEN1224	BICRA	BRD4 interacting chromatin remodeling complex associated protein	19q13.33	Syndromic	3		19		5	Barish S et al. 2020	Edit
	GEN970	BRD4	bromodomain containing 4	19p13.12	Rare single gene variant	2		33		13	Iossifov I , et al. 2012	Edit
	GEN820	BRINP1	BMP/retinoic acid inducible neural specific 1	9q33.1	Functional	0		1		3	Kobayashi M , et al. 2014	Edit
	GEN707	CACNA1A	Calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	19p13.13	Rare single gene variant	3		134		48	Damaj L , et al. 2015	Edit
	GEN408	CACNA1B	calcium voltage-gated channel subunit alpha1 B	9q34.3	Genetic association	2		38		14	Yatsenko SA , et al. 2012	Edit
	GEN772	CAPN12	Calpain 12	19q13.2	Rare single gene variant	3		39		8	Sanders SJ , et al. 2015	Edit
	GEN621	CC2D1A	Coiled-coil and C2 domain containing 1A	19p13.12	Rare single gene variant	2	Yes	37		21	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
	GEN1342	CDK5RAP2	CDK5 regulatory subunit associated protein 2	9q33.2	Syndromic	3		23		14	Kim IB et al. 2022	Edit
	GEN882	CIC	capicua transcriptional repressor	19q13.2	Rare single gene variant	4		31		17	Iossifov I et al. 2014	Edit
	GEN183	CIMAP1D	CIMAP1 family member D	19p13.3	Rare Single Gene variant	2		13		2	Bucan M , et al. 2009	Edit
	GEN866	CNOT3	CCR4-NOT transcription complex subunit 3	19q13.42	Rare single gene variant	4		47		23	et al. 2017	Edit
	GEN307	CNTNAP3	contactin associated protein-like 3	9p12	Rare Single Gene variant	3		10		7	Vaags AK , et al. 2012	Edit
	GEN801	CYLC2	cylicin, basic protein of sperm head cytoskeleton 2	9q31.1	Rare single gene variant	2		3		4	Levy D , et al. 2011	Edit
	GEN058	DAPK1	death-associated protein kinase 1	9q21.33	Functional	2		14		10	Hu VW , et al. 2006	Edit
	GEN071	DMPK	dystrophia myotonica-protein kinase	19q13.32	Syndromic	2		16		13	Ekstrm AB , et al. 2008	Edit
	GEN1120	DMWD	DM1 locus, WD repeat containing	19q13.32	Rare single gene variant	2		5		4	C Yuen RK et al. 2017	Edit
	GEN1426	DNM1	dynamin 1	9q34.11	Rare single gene variant	3		39		12	Mona Abdi et al. 2023	Edit
	GEN853	DOCK8	dedicator of cytokinesis 8	9p24.3	Rare single gene variant	3		33		12	De Rubeis S , et al. 2014	Edit
	GEN557	DOLK	dolichol kinase	9q34.11	Syndromic	0	Yes	5		5	Helander A , et al. 2013	Edit
	GEN1351	ECPAS	Ecm29 proteasome adaptor and scaffold	9q31.3	Rare single gene variant	3		7		5	Zhou X et al. 2022	Edit
	GEN344	EHMT1	Euchromatic histone-lysine N-methyltransferase 1	9q34.3	Syndromic	3		189		45	Talkowski ME , et al. 2012	Edit
	GEN808	EIF3G	eukaryotic translation initiation factor 3 subunit G	19p13.2	Rare single gene variant	3		7		5	Iossifov I , et al. 2012	Edit
	GEN826	ELAVL2	ELAV like neuron-specific RNA binding protein 2	9p21.3	Rare single gene variant	2		7		7	Iossifov I et al. 2014	Edit
	GEN753	ELAVL3	ELAV like neuron-specific RNA binding protein 3	19p13.2	Rare single gene variant	3		5		6	Iossifov I et al. 2014	Edit
	GEN1270	EPS15L1	epidermal growth factor receptor pathway substrate 15 like 1	19p13.11	Rare single gene variant	2		5		3	Wilfert AB et al. 2021	Edit
	GEN658	ETFB	Electron-transfer-flavoprotein, beta polypeptide	19q13.41	Rare single gene variant	2		12		5	O'Roak BJ , et al. 2012	Edit
	GEN1099	FAM98C	family with sequence similarity 98 member C	19q13.2	Rare single gene variant	2		5		4	De Rubeis S , et al. 2014	Edit
	GEN1486	FRRS1L	ferric chelate reductase 1 like	9q31.3	Rare single gene variant			3		2	Kang Seon Lee et al. 2025	Edit
	GEN1198	FXN	frataxin	9q21.11	Rare single gene variant	0		9		2	Trost B et al. 2020	Edit
	GEN1010	GABBR2	gamma-aminobutyric acid type B receptor subunit 2	9q22.33	Functional	4		21		16	EuroEPINOMICS-RES Consortium , et al. 2014	Edit
	GEN742	GADD45B	Growth arrest and DNA-damage-inducible, beta	19p13.3	Functional	2		2		5	Garbett K , et al. 2008	Edit
	GEN682	GDA	guanine deaminase	9q21.13	Rare single gene variant	0		3		3	Li J , et al. 2015	Edit
	GEN347	GNA14	Guanine nucleotide binding protein (G protein), alpha 14	9q21.2	Rare Single Gene variant	0		2		2	Talkowski ME , et al. 2012	Edit
	GEN722	GRIK5	Glutamate receptor, ionotropic, kainate 5	19q13.2	Rare single gene variant	3		11		10	De Rubeis S , et al. 2014	Edit
	GEN626	GRIN1	Glutamate receptor, ionotropic, N-methyl D-aspartate 1	9q34.3	Functional	3	Yes	111		33	Gandal MJ , et al. 2012	Edit
	GEN387	GSN	gelsolin	9q33.2	Rare single gene variant	2		5		3	Awadalla P , et al. 2010	Edit
	GEN1247	HNRNPK	heterogeneous nuclear ribonucleoprotein K	9q21.32	Syndromic	3		35		13	Gillentine MA et al. 2021	Edit
	GEN530	KANK1	KN motif and ankyrin repeat domains 1	9p24.3	Rare single gene variant	2		21		14	Vanzo RJ , et al. 2013	Edit
	GEN434	KCNT1	potassium sodium-activated channel subfamily T member 1	9q34.3	Rare single gene variant	0		49		27	Heron SE , et al. 2012	Edit
	GEN819	KDM4B	lysine demethylase 4B	19p13.3	Rare single gene variant	3		25		6	De Rubeis S , et al. 2014	Edit
	GEN1043	KDM4C	lysine demethylase 4C	9p24.1	Rare single gene variant	2		14		4	Kushima I , et al. 2018	Edit
	GEN920	KLF16	Kruppel like factor 16	19p13.3	Rare single gene variant	2		2		1	Lim ET , et al. 2017	Edit
	GEN1466	KMT2B	lysine methyltransferase 2B	19q13.12	Rare single gene variant	4		74		12	Karen Lob et al.	Edit
	GEN586	KPTN	kaptin, actin binding protein	19q13.32	Syndromic	2		18		9	Baple EL , et al. 2013	Edit
	GEN144	LAMC3	laminin, gamma 3	9q34.12	Rare Single Gene variant	3		28		12	O'Roak BJ , et al. 2011	Edit
	GEN1208	LDLR	low density lipoprotein receptor	19p13.2	Rare single gene variant	2		11		4	Luo Y et al. 2020	Edit
	GEN1399	LHX2	LIM homeobox 2	9q33.3	Rare single gene variant	3		20		5	Schmid CM et al. 2023	Edit
	GEN968	LILRB2	leukocyte immunoglobulin like receptor B2	19q13.42	Rare single gene variant	2		10		4	Krumm N , et al. 2015	Edit
	GEN632	LIN7B	lin-7 homolog B, crumbs cell polarity complex component	19q13.33	Multigenic CNV/rare single gene variant	2		3		3	Mizuno M , et al. 2014	Edit
	GEN1357	LMTK3	lemur tyrosine kinase 3	19q13.33	Functional	3		8		6	Zhou X et al. 2022	Edit
	GEN272	LMX1B	LIM homeobox transcription factor 1 beta	9q33.3	Genetic association/Functional	2		5		4	Thanseem I , et al. 2011	Edit
	GEN1327	MAP4K1	mitogen-activated protein kinase kinase kinase kinase 1	19q13.2	Rare single gene variant	2		4		5	Iossifov I et al. 2014	Edit
	GEN1502	MAST1	microtubule associated serine/threonine kinase 1	19p13.13	Rare single gene variant			22		5	Steven Laurie et al. 2025	Edit
	GEN1302	MAST3	microtubule associated serine/threonine kinase 3	19p13.11	Functional	4		21		8	Spinelli E et al. 2021	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	71		24	Johansen A , et al. 2016	Edit
	GEN1100	MLANA	melan-A	9p24.1	Rare single gene variant	2		3		4	Iossifov I et al. 2014	Edit
	GEN661	MYO9B	Myosin IXB	19p13.11	Rare single gene variant	3		34		6	De Rubeis S , et al. 2014	Edit
	GEN868	NACC1	nucleus accumbens associated 1	19p13.13	Rare single gene variant	2		17		12	Schoch K , et al. 2017	Edit
	GEN1047	NFIB	nuclear factor I B	9p23-p22.3	Rare single gene variant	3		20		8	Iossifov I et al. 2014	Edit
	GEN805	NFIX	nuclear factor I/X (CCAAT-binding transcription factor)	19p13.13	Syndromic	0		75		23	Malan V , et al. 2010	Edit
	GEN1428	NOTCH1	notch receptor 1	9q34.3	Rare single gene variant	3		23		11	Kuokuo Li et al. 2024	Edit
	GEN1172	NOVA2	NOVA alternative splicing regulator 2	19q13.32	Syndromic	3		16		3	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	2	Yes	16		6	Abu-Libdeh B , et al. 2019	Edit
	GEN986	NTRK2	neurotrophic receptor tyrosine kinase 2	9q21.33	Syndromic	2		49		11	Hamdan FF , et al. 2017	Edit
	GEN667	PAX5	Paired box 5	9p13.2	Rare Single Gene variant	4		25		10	Iossifov I , et al. 2012	Edit
	GEN311	PDE4A	phosphodiesterase 4A	19p13.2	Functional	2		5		5	Braun NN , et al. 2007	Edit
	GEN859	PGLYRP2	peptidoglycan recognition protein 2	19p13.12	Rare single gene variant	2		5		6	Arentsen T , et al. 2016	Edit
	GEN651	PHF2	PHD finger protein 2	9q22.31	Rare single gene variant	3		9		8	Iossifov I , et al. 2012	Edit
	GEN552	PIK3R2	phosphoinositide-3-kinase regulatory subunit 2	19p13.11	Syndromic	2		13		11	Rivire JB , et al. 2012	Edit
	GEN1441	PLAA	phospholipase A2 activating protein	9p21.2	Functional	2	U	5		8	Michele Iacomino et al. 2024	Edit
	GEN371	PLAUR	Plasminogen activator, urokinase receptor	19q13.31	Genetic association	2		4		3	Campbell DB , et al. 2009	Edit
	GEN1015	PNPLA7	patatin like phospholipase domain containing 7	9q34.3	Rare single gene variant	2		13		7	O'Roak BJ , et al. 2012	Edit
	GEN942	POMT1	protein O-mannosyltransferase 1	9q34.13	Rare single gene variant	2		17		4	Krumm N , et al. 2015	Edit
	GEN1432	PPFIA3	PTPRF interacting protein alpha 3	19q13.33	Rare single gene variant	3		26		8	Maimuna S Paul et al. 2024	Edit
	GEN1161	PPP5C	protein phosphatase 5 catalytic subunit	19q13.32	Rare single gene variant	2		4		3	Iossifov I et al. 2014	Edit
	GEN1128	PRKD2	protein kinase D2	19q13.32	Rare single gene variant	3		4		4	De Rubeis S , et al. 2014	Edit
	GEN1008	PRR12	proline rich 12	19q13.33	Syndromic	4		40		11	Leduc MS , et al. 2018	Edit
	GEN310	PRUNE2	prune homolog 2	9q21.2	Rare Single Gene variant	3		15		12	Vaags AK , et al. 2012	Edit
	GEN1455	PTPRD	protein tyrosine phosphatase receptor type D	9p24.1-p23	Genetic association	3		14		14	Yi Yang et al.	Edit
	GEN940	RFX3	regulatory factor X3	9p24.2	Rare single gene variant	4		33		13	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		57		16	Iossifov I et al. 2014	Edit
	GEN1265	RUSC2	RUN and SH3 domain containing 2	9p13.3	Rare single gene variant	3		18		5	Wilfert AB et al. 2021	Edit
	GEN503	SAE1	SUMO1 activating enzyme subunit 1	19q13.32	Rare single gene variant	0		7		4	Prasad A , et al. 2013	Edit
	GEN1349	SCAF1	SR-related CTD associated factor 1	19q13.33	Rare single gene variant	3		26		4	Zhou X et al. 2022	Edit
	GEN1057	SET	SETnuclear proto-oncogene	9q34.11	Rare single gene variant	3		13		7	C Yuen RK et al. 2017	Edit
	GEN340	SHANK1	SH3 and multiple ankyrin repeat domains 1	19q13.33	Rare Single Gene variant	4		62		18	Sato D , et al. 2012	Edit
	GEN1242	SIN3B	SIN3 transcription regulator family member B	19p13.11	Rare single gene variant	3		15		7	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	2	Yes	17		16	Brune CW , et al. 2009	Edit
	GEN506	SLC24A2	solute carrier family 24 member 2	9p22.1	Rare single gene variant	2		3		4	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		5		3	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		46		31	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		62		26	De Rubeis S , et al. 2014	Edit
	GEN390	STXBP1	Syntaxin binding protein 1	9q34.11	Syndromic	4		331		83	Campbell IM , et al. 2012	Edit
	GEN341	SYT3	synaptotagmin 3	19q13.33	Rare Single Gene variant	2		4		3	Sato D , et al. 2012	Edit
	GEN247	TAF1L	TAF1 RNA polymerase II	9p21.1	Rare Single Gene variant	2		9		6	O'Roak BJ , et al. 2011	Edit
	GEN1168	TEK	TEKreceptortyrosine kinase	9p21.2	Rare single gene variant	2		6		4	Satterstrom FK et al. 2020	Edit
	GEN696	THAP8	THAP domain containing 8	19q13.12	Rare single gene variant	2		2		2	Li J , et al. 2015	Edit
	GEN1262	TNPO2	transportin 2	19p13.13	Rare single gene variant	3		21		4	Goodman LD et al. 2021	Edit
	GEN1142	TRIM32	tripartite motif containing 32	9q33.1	Rare single gene variant/multigenic CNV	0		30		5	Zhu JW , et al. 2019	Edit
	GEN1385	TRPM3	transient receptor potential cation channel subfamily M member 3	9q21.12	Rare single gene variant	3		50		15	Dyment DA et al. 2019	Edit
	GEN1332	TRPM6	transient receptor potential cation channel subfamily M member 6	9q21.13	Rare single gene variant	3		13		6	Iossifov I et al. 2014	Edit
	GEN255	TSC1	tuberous sclerosis 1	9q34.13	Rare Single Gene variant	4		55		40	Smalley SL 1998	Edit
	GEN850	TSHZ3	teashirt zinc finger homeobox 3	19	Rare single gene variant	0		12		8	Caubit X , et al. 2016	Edit
	GEN1422	U2AF2	U2 small nuclear RNA auxiliary factor 2	19q13.42	Rare single gene variant	3		52		8	Dong Li et al. 2024	Edit
	GEN869	UNC13A	unc-13 homolog A	19p13.11	Rare single gene variant	3		17		11	Lipstein N , et al. 2017	Edit
	GEN1418	VCP	valosin containing protein	9p13.3	Rare single gene variant	3		17		6	Annelise Y Mah-Som et al. 2023	Edit
	GEN787	VLDLR	Very low density lipoprotein receptor	9p24.2	Functional	2		8		6	Fatemi SH , et al. 2005	Edit
	GEN978	VRK3	vaccinia related kinase 3	19q13.33	Functional			1		2	Kang MS , et al. 2017	Edit
	GEN1368	WDR5	WD repeat domain 5	9q34.2	Rare single gene variant	2		14		3	Snijders Blok L et al. 2022	Edit
	GEN1287	ZBTB7A	zinc finger and BTB domain containing 7A	19p13.3	Syndromic	3		13		2	von der Lippe C et al. 2022	Edit
	GEN875	ZC3H4	zinc finger CCCH-type containing 4	19q13.32	Rare single gene variant	3		28		7	Iossifov I et al. 2014	Edit
	GEN729	ZNF462	Zinc finger protein 462	9q31.2	Rare single gene variant	3		45		19	De Rubeis S , et al. 2014	Edit
	GEN1478	ZNF536	zinc finger protein 536	19q12	Functional			8		11	Soo-Whee Kim et al. 2024	Edit
	GEN965	ZNF548	zinc finger protein 548	19q13.43	Rare single gene variant	2		11		4	Krumm N , et al. 2015	Edit
	GEN773	ZNF559	Zinc finger protein 559	19p13.2	Rare single gene variant	3		33		9	Sanders SJ , et al. 2015	Edit
	GEN944	ZNF626	zinc finger protein 626	19p12	Rare single gene variant	2		28		4	Krumm N , et al. 2015	Edit

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