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
	GEN1222	AGO2	argonaute RISC catalytic component 2	8q24.3	Syndromic	3		20		2	Lessel D et al. 2020	Edit
	GEN1261	ARFGEF1	ADP ribosylation factor guanine nucleotide exchange factor 1	8q13.2	Rare single gene variant	3		21		5	Thomas Q et al. 2021	Edit
	GEN1007	ARHGEF10	Rho guanine nucleotide exchange factor 10	8p23.3	Rare single gene variant	2		12		6	Lu DH , et al. 2018	Edit
	GEN577	ASXL3	Additional sex combs like 3 (Drosophila)	18q12.1	Syndromic	5		109		50	Dinwiddie DL , et al. 2013	Edit
	GEN025	BCL2	B-cell CLL/lymphoma 2	18q21.33	Functional			0		10	Nguyen A , et al. 2010	Edit
	GEN1403	CDH2	cadherin 2	18q12.1	Rare single gene variant	3		14		8	Miyake N et al. 2023	Edit
	GEN487	CELF4	CUGBP, Elav-like family member 4	18q12.2	Functional	3		15		15	Halgren C , et al. 2012	Edit
	GEN280	CHD7	chromodomain helicase DNA binding protein 7	8q12.2	Syndromic	4		63		46	Vissers LE , et al. 2004	Edit
	GEN498	CHRNB3	cholinergic receptor nicotinic beta 3 subunit	8p11.21	Rare single gene variant	0		5		3	Prasad A , et al. 2013	Edit
	GEN710	CLN8	Ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)	8p23.3	Syndromic	2		11		6	Egawa J , et al. 2015	Edit
	GEN925	CNGB3	cyclic nucleotide gated channel beta 3	8q21.3	Rare single gene variant	3		13		6	De Rubeis S , et al. 2014	Edit
	GEN596	CSMD1	CUB and Sushi multiple domains 1	8p23.2	Rare Single Gene variant	4		40		19	Cukier HN , et al. 2014	Edit
	GEN1309	CSMD3	CUB and Sushi multiple domains 3	8q23.3	Rare single gene variant	3		33		10	Floris C et al. 2008	Edit
	GEN056	CYP11B1	cytochrome P450, family 11, subfamily B, polypeptide 1	8q24.3	Syndromic			2		4	Chakrabarti B , et al. 2009	Edit
	GEN1193	DCC	DCCnetrin 1 receptor	18q21.2	Genetic association	2		7		6	Wu Y et al. 2020	Edit
	GEN1204	DDHD2	DDHD domain containing 2	8p11.23	Rare single gene variant	2		6		7	Matoba N et al. 2020	Edit
	GEN677	DLGAP1	DLG associated protein 1	18p11.31	Rare single gene variant	3		18		13	Li J , et al. 2015	Edit
	GEN066	DLGAP2	discs, large (Drosophila) homolog-associated protein 2	8p23.3	Rare Single Gene variant	3		36		18	Marshall CR , et al. 2008	Edit
	GEN998	DPYSL2	dihydropyrimidinase like 2	8p21.2	Genetic association	2		6		17	De Rubeis S , et al. 2014	Edit
	GEN613	EFR3A	EFR3 homolog A (S. cerevisiae)	8q24.22	Rare Single Gene variant	3		24		9	Gupta AR , et al. 2014	Edit
	GEN1123	EGR3	early growth response 3	8p21.3	Rare single gene variant	2		5		3	De Rubeis S , et al. 2014	Edit
	GEN1252	ELP2	elongator acetyltransferase complex subunit 2	18q12.2	Syndromic		Yes	17		6	Cohen JS et al. 2015	Edit
	GEN927	EPPK1	epiplakin 1	8q24.3	Rare single gene variant	3		22		8	Lim ET , et al. 2017	Edit
	GEN361	EXT1	Exostosin 1	8q24.11	Rare single gene variant	3		8		7	Li H , et al. 2002	Edit
	GEN1223	FABP4	fatty acid binding protein 4	8q21.13	Rare single gene variant	2		4		3	Maekawa M et al. 2020	Edit
	GEN086	FABP5	fatty acid binding protein 5 (psoriasis-associated)	8q21.13	Rare Single Gene variant, Genetic Association	2		5		8	Maekawa M , et al. 2010	Edit
	GEN428	FAM135B	family with sequence similarity 135 member B	8q24.23	Genetic association	2		7		3	Connolly JJ , et al. 2012	Edit
	GEN315	FBXO15	F-box protein 15	18q22.3	Rare Single Gene variant	2		6		5	Christian SL , et al. 2008	Edit
	GEN1205	FGFR1	fibroblast growth factor receptor 1	8p11.23	Rare single gene variant	2		5		4	Matoba N et al. 2020	Edit
	GEN747	KAT6A	K(lysine) acetyltransferase 6A	8p11.21	Rare single gene variant	4		165		32	Iossifov I et al. 2014	Edit
	GEN369	KATNAL2	Katanin p60 subunit A-like 2	18q21.1	Rare Single Gene variant	3		55		15	Sanders SJ , et al. 2012	Edit
	GEN536	KCNQ3	potassium voltage-gated channel subfamily Q member 3	8q24.22	Genetic association	4		54		21	Gilling M , et al. 2013	Edit
	GEN834	KHDRBS3	KH RNA binding domain containing, signal transduction associated 3	8q24.23	Functional			0		2	Traunmller L , et al. 2014	Edit
	GEN688	KIF13B	Kinesin family member 13B	8p12	Rare single gene variant	2		9		4	Li J , et al. 2015	Edit
	GEN403	LAMA1	Laminin, alpha 1	18p11.31	Genetic association	3		19		12	Anney R , et al. 2012	Edit
	GEN689	LPL	lipoprotein lipase	8p21.3	Rare single gene variant	2		7		3	Li J , et al. 2015	Edit
	GEN1275	LRP12	LDL receptor related protein 12	8q22.3	Rare single gene variant	2		4		2	Wilfert AB et al. 2021	Edit
	GEN152	MBD1	methyl-CpG binding domain protein 1	18q21.1	Rare Single Gene variant	2		13		8	Li H , et al. 2005	Edit
	GEN551	MC4R	Melanocortin 4 receptor	18q21.32	Functional			0		4	Xu P , et al. 2013	Edit
	GEN811	MCM4	minichromosome maintenance complex component 4	8q11.21	Rare single gene variant	2		4		4	Fromer M , et al. 2014	Edit
	GEN155	MCPH1	microcephalin 1	8p23.1	Rare Single Gene variant	3		22		19	Ozgen HM , et al. 2009	Edit
	GEN660	MIB1	Mindbomb E3 ubiquitin protein ligase 1	18q11.2	Rare single gene variant	3		31		10	De Rubeis S , et al. 2014	Edit
	GEN746	MOCOS	Molybdenum cofactor sulfurase	18q12.2	Rare single gene variant	2		7		7	Fron F , et al. 2015	Edit
	GEN335	MSR1	macrophage scavenger receptor 1	8p22	Rare Single Gene variant	2		8		5	O'Roak BJ , et al. 2012	Edit
	GEN1238	MSRA	methionine sulfoxide reductase A	8p23.1	Genetic association	2		7		13	Huang K et al. 2021	Edit
	GEN439	NEFL	Neurofilament, light polypeptide	8p21.2	Genetic association/functional	0		2		2	Anitha A , et al. 2012	Edit
	GEN628	NRG1	Neuregulin 1	8p12	Functional			0		4	Ehrlichman RS , et al. 2009	Edit
	GEN1336	PABPC1	poly(A) binding protein cytoplasmic 1	8q22.3	Rare single gene variant	3		10		6	De Rubeis S , et al. 2014	Edit
	GEN1101	PCM1	pericentriolar material 1	8p22	Rare single gene variant	2		7		6	Iossifov I et al. 2014	Edit
	GEN1215	PEBP4	phosphatidylethanolamine binding protein 4	8p21.3	Rare single gene variant	2		2		2	Luo Y et al. 2020	Edit
	GEN1388	PHLPP1	PH domain and leucine rich repeat protein phosphatase 1	18q21.33	Rare single gene variant	2		9		5	Wilfert AB et al. 2021	Edit
	GEN195	PINX1	PIN2/TERF1 interacting, telomerase inhibitor 1	8p23.1	Rare Single Gene variant	2		4		7	Pinto D , et al. 2010	Edit
	GEN839	PRKDC	protein kinase, DNA-activated, catalytic polypeptide	8q11.21	Syndromic	3		17		9	Filiano AJ , et al. 2016	Edit
	GEN329	PSD3	pleckstrin and Sec7 domain containing 3	8p22	Rare Single Gene variant	2		11		7	Pinto D , et al. 2010	Edit
	GEN1307	PTDSS1	phosphatidylserine synthase 1	8q22.1	Syndromic	2		5		6	Yuen RK , et al. 2015	Edit
	GEN807	RAB2A	RAB2A, member RAS oncogene family	8q12.1-q12.2	Rare single gene variant	2		5		8	Sanders SJ , et al. 2012	Edit
	GEN1025	RAD21	RAD21cohesin complex component	8q24.11	Syndromic	0		3		7	Deardorff MA , et al. 2012	Edit
	GEN210	RB1CC1	RB1-inducible coiled-coil 1	8q11.23	Rare Single Gene variant	3		11		7	Marshall CR , et al. 2008	Edit
	GEN1180	RIMS2	regulating synaptic membrane exocytosis 2	8q22.3	Genetic association	3		14		6	Mechaussier S et al. 2020	Edit
	GEN815	RIT2	Ras-like without CAAX 2	18q12.3	Genetic association			6		3	Liu X , et al. 2015	Edit
	GEN1381	RUNX1T1	RUNX1 partner transcriptional co-repressor 1	8q21.3	Rare single gene variant	3		3		3	Satterstrom FK et al. 2020	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
	GEN640	SETBP1	SET binding protein 1	18q12.3	Rare single gene variant	4		99		32	O'Roak BJ , et al. 2012	Edit
	GEN916	SMAD4	SMAD family member 4	18q21.2	Rare single gene variant	3		14		11	Iossifov I et al. 2014	Edit
	GEN1175	SYBU	syntabulin	8q23.2	Rare single gene variant/Functional	2		1		1	Xiong GJ et al. 2020	Edit
	GEN727	TBC1D31	TBC1 domain family, member 31	8q24.13	Rare single gene variant	3		7		7	Iossifov I et al. 2014	Edit
	GEN592	TCF4	Transcription factor 4	18q21.2	Syndromic	4		79		73	Van Balkom ID , et al. 2012	Edit
	GEN945	TRAPPC9	trafficking protein particle complex 9	8q24.3	Syndromic	3		68		25	De Rubeis S , et al. 2014	Edit
	GEN1370	TSHZ1	teashirt zinc finger homeobox 1	18q22.3	Syndromic	3		9		6	C Yuen RK et al. 2017	Edit
	GEN565	TTI2	TELO2 interacting protein 2	8p12	Syndromic	2		3		3	Langout M , et al. 2013	Edit
	GEN469	UBR5	ubiquitin protein ligase E3 component n-recognin 5	8q22.3	Rare single gene variant	4		15		11	Kato T , et al. 2012	Edit
	GEN1220	UNC5D	unc-5 netrin receptor D	8p12	Rare single gene variant	2	Yes	9		5	Schmitz-Abe K et al. 2020	Edit
	GEN281	VPS13B	vacuolar protein sorting 13 homolog B (yeast)	8q22.2	Syndromic	4	Yes	85		29	Kolehmainen J , et al. 2003	Edit
	GEN1197	WWP1	WW domain containing E3 ubiquitin protein ligase 1	8q21.3	Rare single gene variant	2		10		2	Novelli G et al. 2020	Edit
	GEN1335	YWHAZ	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta	8q22.3	Genetic association	3		18		16	Toma C , et al. 2013	Edit
	GEN484	ZNF407	zinc finger protein 407	18q22.3	Rare Single Gene variant	2		24		8	Ren CM , et al. 2012	Edit
	GEN499	ZNF517	Zinc finger protein 517	8q24.3	Rare single gene variant	2		7		5	Prasad A , et al. 2013	Edit

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