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
	GEN609	ANXA1	Annexin A1	9q21.13	Rare single gene variant	0		12		2	Correia CT , et al. 2014	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		43		26	Glessner JT , et al. 2009	Edit
	GEN820	BRINP1	BMP/retinoic acid inducible neural specific 1	9q33.1	Functional	0		1		4	Kobayashi M , et al. 2014	Edit
	GEN408	CACNA1B	calcium voltage-gated channel subunit alpha1 B	9q34.3	Genetic association	3		40		15	Yatsenko SA , et al. 2012	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
	GEN307	CNTNAP3	contactin associated protein-like 3	9p12	Rare Single Gene variant	2		11		8	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
	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		34		13	De Rubeis S , et al. 2014	Edit
	GEN557	DOLK	dolichol kinase	9q34.11	Syndromic	2	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	5		194		49	Talkowski ME , 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
	GEN1486	FRRS1L	ferric chelate reductase 1 like	9q31.3	Rare single gene variant	2		3		2	Kang Seon Lee et al. 2025	Edit
	GEN1198	FXN	frataxin	9q21.11	Rare single gene variant	2		9		2	Trost B et al. 2020	Edit
	GEN1010	GABBR2	gamma-aminobutyric acid type B receptor subunit 2	9q22.33	Functional	4		24		17	EuroEPINOMICS-RES Consortium , et al. 2014	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
	GEN626	GRIN1	Glutamate receptor, ionotropic, N-methyl D-aspartate 1	9q34.3	Functional	4	Yes	114		36	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		36		14	Gillentine MA et al. 2021	Edit
	GEN530	KANK1	KN motif and ankyrin repeat domains 1	9p24.3	Rare single gene variant	2		22		15	Vanzo RJ , et al. 2013	Edit
	GEN434	KCNT1	potassium sodium-activated channel subfamily T member 1	9q34.3	Rare single gene variant	2		49		27	Heron SE , et al. 2012	Edit
	GEN1043	KDM4C	lysine demethylase 4C	9p24.1	Rare single gene variant	2		14		4	Kushima I , et al. 2018	Edit
	GEN144	LAMC3	laminin, gamma 3	9q34.12	Rare Single Gene variant	3		28		12	O'Roak BJ , et al. 2011	Edit
	GEN1399	LHX2	LIM homeobox 2	9q33.3	Rare single gene variant	3		20		5	Schmid CM et al. 2023	Edit
	GEN272	LMX1B	LIM homeobox transcription factor 1 beta	9q33.3	Genetic association/Functional	2		5		4	Thanseem I , et al. 2011	Edit
	GEN1537	MAN1B1	mannosidase alpha class 1B member 1	9q34.3	Syndromic/Functional	2	Yes	27		8	Metin Eser et al. 2025	Edit
	GEN1100	MLANA	melan-A	9p24.1	Rare single gene variant	2		3		4	Iossifov I et al. 2014	Edit
	GEN1047	NFIB	nuclear factor I B	9p23-p22.3	Rare single gene variant	3		20		8	Iossifov I et al. 2014	Edit
	GEN1428	NOTCH1	notch receptor 1	9q34.3	Rare single gene variant	3		24		12	Kuokuo Li et al. 2024	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	4		50		12	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
	GEN651	PHF2	PHD finger protein 2	9q22.31	Rare single gene variant	3		9		8	Iossifov I , et al. 2012	Edit
	GEN1441	PLAA	phospholipase A2 activating protein	9p21.2	Functional	2		5		8	Michele Iacomino et al. 2024	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		18		5	Krumm N , et al. 2015	Edit
	GEN310	PRUNE2	prune homolog 2	9q21.2	Rare Single Gene variant	3		15		12	Vaags AK , et al. 2012	Edit
	GEN1528	PTCH1	patched 1	9q22.32	Syndromic	3		17		15	Ruohao Wu et al. 2025	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	4		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
	GEN1057	SET	SETnuclear proto-oncogene	9q34.11	Rare single gene variant	3		27		8	C Yuen RK et al. 2017	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		47		32	Wolff D , et al. 2012	Edit
	GEN1525	SPTAN1	spectrin alpha, non-erythrocytic 1	9q34.11	Rare single gene variant	3		40		13	Ruohao Wu et al. 2025	Edit
	GEN390	STXBP1	Syntaxin binding protein 1	9q34.11	Syndromic	5		332		85	Campbell IM , 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
	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		56		41	Smalley SL 1998	Edit
	GEN1418	VCP	valosin containing protein	9p13.3	Rare single gene variant	3		17		7	Annelise Y Mah-Som et al. 2023	Edit
	GEN787	VLDLR	Very low density lipoprotein receptor	9p24.2	Functional	2		10		7	Fatemi SH , et al. 2005	Edit
	GEN1368	WDR5	WD repeat domain 5	9q34.2	Rare single gene variant	2		14		3	Snijders Blok L et al. 2022	Edit
	GEN729	ZNF462	Zinc finger protein 462	9q31.2	Rare single gene variant	4		50		20	De Rubeis S , et al. 2014	Edit

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