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
	GEN1316	ABL2	ABL proto-oncogene 2, non-receptor tyrosine kinase	1q25.2	Functional	3		10		10	Iossifov I et al. 2014	Edit
	GEN562	ADORA3	Adenosine A3 receptor	1p13.2	Functional	3		8		4	Campbell NG , et al. 2013	Edit
	GEN1108	ADSS2	adenylosuccinate synthase 2	1q44	Rare single gene variant	2		2		3	De Rubeis S , et al. 2014	Edit
	GEN333	AGBL4	ATP/GTP binding protein-like 4	1p33	Rare Single Gene variant			16		3	Pinto D , et al. 2010	Edit
	GEN1003	AGO1	argonaute 1, RISC catalytic component	1p34.3	Rare single gene variant	4		45		15	Iossifov I et al. 2014	Edit
	GEN1066	AGO3	argonaute RISC catalytic component 3	1p34.3	Rare single gene variant	3		9		8	De Rubeis S , et al. 2014	Edit
	GEN1062	AGO4	argonaute RISC catalytic component 4	1p34.3	Rare single gene variant	2		6		5	De Rubeis S , et al. 2014	Edit
	GEN824	AHDC1	AT-hook DNA binding motif containing 1	1p36.11-p35.3	Syndromic	4		110		29	Iossifov I et al. 2014	Edit
	GEN830	ALG6	ALG6, alpha-1,3-glucosyltransferase	1p31.3	Syndromic			1		2	Morava E , et al. 2016	Edit
	GEN631	AMPD1	Adenosine monophosphate deaminase 1	1p13.2	Genetic association	3		13		5	Xia K , et al. 2013	Edit
	GEN655	APH1A	APH1A gamma secretase subunit	1q21.2	Rare single gene variant	2		3		3	De Rubeis S , et al. 2014	Edit
	GEN1341	ARHGEF2	Rho/Rac guanine nucleotide exchange factor 2	1q22	Rare single gene variant	3		7		7	De Rubeis S , et al. 2014	Edit
	GEN642	ASH1L	Ash1 (absent, small, or homeotic)-like (Drosophila)	1q22	Rare single gene variant	5		147		34	Willsey AJ , et al. 2013	Edit
	GEN939	ASPM	abnormal spindle microtubule assembly	1q31.3	Syndromic	4		70		13	Iossifov I et al. 2014	Edit
	GEN1046	ATP1A1	ATPase Na+/K+ transporting subunit alpha 1	1p13.1	Rare single gene variant	3		12		8	De Rubeis S , et al. 2014	Edit
	GEN862	AVPR1B	arginine vasopressin receptor 1B	1q32.1	Functional			5		8	Francis SM , et al. 2016	Edit
	GEN1219	BRINP3	BMP/retinoic acid inducible neural specific 3	1q31.1	Functional	2	Yes	3		3	Schmitz-Abe K et al. 2020	Edit
	GEN030	CA6	carbonic anhydrase VI	1p36.23	Rare Single Gene variant	0		5		7	Bucan M , et al. 2009	Edit
	GEN813	CACNA1E	calcium voltage-gated channel subunit alpha1 E	1q25.3	Rare single gene variant	4		71		23	O'Roak BJ , et al. 2012	Edit
	GEN322	CAMSAP2	calmodulin regulated spectrin-associated protein family, member 2	1q32.1	Rare Single Gene variant	0		2		2	Leblond CS , et al. 2012	Edit
	GEN291	CAMTA1	calmodulin binding transcription activator 1	1p36.31-p36.23	Rare single gene variant	3		46		14	Mikhail FM , et al. 2011	Edit
	GEN1060	CASZ1	castor zinc finger 1	1p36.22	Rare single gene variant	4		54		7	C Yuen RK et al. 2017	Edit
	GEN912	CHD5	chromodomain helicase DNA binding protein 5	1p36.31	Rare single gene variant	3		30		11	Pisansky MT , et al. 2017	Edit
	GEN490	CHRM3	cholinergic receptor muscarinic 3	1q43	Multigenic CNV	2		8		7	Petersen AK , et al. 2012	Edit
	GEN537	CNR2	Cannabinoid receptor 2 (macrophage)	1p36.11	Genetic association	0		7		7	Siniscalco D , et al. 2013	Edit
	GEN214	COP1	COP1 E3 ubiquitin ligase	1q25.1-q25.2	Genetic Association	2		3		10	Glessner JT , et al. 2009	Edit
	GEN963	CPT2	carnitine palmitoyltransferase 2	1p32.3	Rare single gene variant	3		10		5	Li J , et al. 2017	Edit
	GEN1130	CSDE1	cold shock domain containing E1	1p13.2	Rare single gene variant	4		31		7	Iossifov I et al. 2014	Edit
	GEN057	DAB1	disabled homolog 1 (Drosophila)	1p32.2-p32.1	Functional			1		7	Fatemi SH , et al. 2005	Edit
	GEN1405	DHX9	DExH-box helicase 9	1q25.3	Rare single gene variant	3		25		5	Yamada M et al. 2023	Edit
	GEN065	DISC1	disrupted in schizophrenia 1	1q42.2	Syndromic	2		36		38	Kilpinen H , et al. 2007	Edit
	GEN550	DLGAP3	DLG associated protein 3	1p34.3	Functional	2		15		12	Welch JM , et al. 2007	Edit
	GEN074	DPYD	dihydropyrimidine dehydrogenase	1p21.3	Rare Single Gene variant	2		30		15	Marshall CR , et al. 2008	Edit
	GEN796	DVL1	Dishevelled segment polarity protein 1	1p36.33	Functional			0		3	Lijam N , et al. 1997	Edit
	GEN410	EPHB2	EPH receptor B2	1p36.12	Rare single gene variant	3		61		9	Sanders SJ , et al. 2012	Edit
	GEN620	FABP3	Fatty acid binding protein 3, muscle and heart (mammary-derived growth inhibitor)	1p35.2	Functional/rare single gene variant	0		1		2	Shimamoto C , et al. 2014	Edit
	GEN946	FCRL6	Fc receptor like 6	1q23.2	Rare single gene variant	2		29		4	Sanders SJ , et al. 2012	Edit
	GEN1174	GALNT2	polypeptide N-acetylgalactosaminyltransferase 2	1q42.13	Syndromic	2		10		6	Zilmer M et al. 2020	Edit
	GEN781	GLIS1	GLIS family zinc finger 1	1p32.3	Genetic association	0		4		3	Kuo PH , et al. 2015	Edit
	GEN684	GRIK3	glutamate ionotropic receptor kainate type subunit 3	1p34.3	Genetic association	2		5		7	Li J , et al. 2015	Edit
	GEN115	GSTM1	glutathione S-transferase M1	1p13.3	Genetic Association			1		3	Buyske S , et al. 2006	Edit
	GEN870	HIVEP3	human immunodeficiency virus type I enhancer binding protein 3	1p34.2	Rare single gene variant	3		9		9	Iossifov I et al. 2014	Edit
	GEN926	HNRNPU	heterogeneous nuclear ribonucleoprotein U	1q44	Rare single gene variant	4		131		40	Lim ET , et al. 2017	Edit
	GEN126	HSD11B1	hydroxysteroid (11-beta) dehydrogenase 1	1q32.2	Syndromic	0		2		9	Chakrabarti B , et al. 2009	Edit
	GEN759	ILF2	Interleukin enhancer binding factor 2	1q21.3	Rare single gene variant	3		6		6	Sanders SJ , et al. 2015	Edit
	GEN874	IQGAP3	IQ motif containing GTPase activating protein 3	1q22	Rare single gene variant	3		12		6	Stessman HA , et al. 2017	Edit
	GEN1290	KCNA2	potassium voltage-gated channel subfamily A member 2	1p13.3	Rare single gene variant	3		23		11	Qaiser F et al. 2021	Edit
	GEN1420	KCNA3	potassium voltage-gated channel subfamily A member 3	1p13.3	Rare single gene variant	3		15		2	et al.	Edit
	GEN999	KCND3	potassium voltage-gated channel subfamily D member 3	1p13.2	Genetic association	2		6		13	Iossifov I et al. 2014	Edit
	GEN140	KCNJ10	potassium voltage-gated channel subfamily J member 10	1q23.2	Genetic Association	3		17		13	Sicca F , et al. 2011	Edit
	GEN647	KDM5B	Lysine (K)-specific demethylase 5B	1q32.1	Rare single gene variant	4		80		24	Iossifov I et al. 2014	Edit
	GEN1044	KIF14	kinesin family member 14	1q32.1	Rare single gene variant	2		10		7	Krumm N , et al. 2015	Edit
	GEN1018	KIF21B	kinesin family member 21B	1q32.1	Functional	2		6		7	Gromova KV , et al. 2018	Edit
	GEN1363	KLHL20	kelch like family member 20	1q25.1	Functional	2		15		4	Satterstrom FK et al. 2020	Edit
	GEN571	KMO	kynurenine 3-monooxygenase	1q43	Functional	2		2		3	McFarlane HG , et al. 2007	Edit
	GEN417	LRRC7	Leucine rich repeat containing 7	1p31.1	Functional	2		4		5	Carlisle HJ , et al. 2011	Edit
	GEN1390	MACF1	microtubule actin crosslinking factor 1	1p34.3	Rare single gene variant	3		22		9	Iossifov I et al. 2014	Edit
	GEN151	MARK1	microtubule affinity regulating kinase 1	1q41	Genetic association/Functional	2		15		12	Maussion G , et al. 2008	Edit
	GEN1049	MIR137	microRNA 137	1p21.3	Rare single gene variant	0		11		10	Carter MT , et al. 2010	Edit
	GEN163	MTHFR	methylenetetrahydrofolate reductase (NAD(P)H)	1p36.22	Genetic Association	2		20		24	James SJ , et al. 2006	Edit
	GEN785	MTOR	mechanistic target of rapamycin kinase	1p36.22	Rare single gene variant	4		69		34	Mroske C , et al. 2015	Edit
	GEN529	MTR	5-methyltetrahydrofolate-homocysteine methyltransferase	1q43	Functional	2		9		8	Muratore CR , et al. 2013	Edit
	GEN1439	NASP	nuclear autoantigenic sperm protein	1p34.1	Rare single gene variant	2		5		3	et al.	Edit
	GEN1029	NEGR1	neuronal growth regulator 1	1p31.1	Rare single gene variant			2		6	Singh K , et al. 2018	Edit
	GEN290	NFIA	nuclear factor I/A	1p31.3	Rare Single Gene variant	3		30		18	Mikhail FM , et al. 2011	Edit
	GEN174	NOS1AP	nitric oxide synthase 1 (neuronal) adaptor protein	1q23.3	Rare single Gene variant	2		3		7	Delorme R , et al. 2010	Edit
	GEN1019	NOTCH2NLA	notch 2 N-terminal like A	1q21.1	Functional/Multigenic CNV			0		1	Fiddes IT , et al. 2018	Edit
	GEN180	NTNG1	netrin G1	1p13.3	Syndromic	2		5		8	Borg I , et al. 2005	Edit
	GEN181	NTRK1	neurotrophic tyrosine kinase, receptor, type 1	1q23.1	Rare Single Gene variant	2		15		9	Chakrabarti B , et al. 2009	Edit
	GEN812	NUP133	nucleoporin 133kDa	1q42.13	Rare single gene variant	2		4		5	Iossifov I , et al. 2012	Edit
	GEN186	OR1C1	olfactory receptor, family 1, subfamily C, member 1	1q44	Rare Single Gene variant	2		6		4	Bucan M , et al. 2009	Edit
	GEN776	OR2M4	Olfactory receptor, family 2, subfamily M, member 4	1q44	Genetic association			4		1	Kuo PH , et al. 2015	Edit
	GEN800	OR2T10	olfactory receptor family 2 subfamily T member 10	1q44	Rare single gene variant	2		3		4	Iossifov I et al. 2014	Edit
	GEN580	PATJ	PATJ, crumbs cell polarity complex component	1p31.3	Rare single gene variant	2		10		6	Kenny EM , et al. 2013	Edit
	GEN1073	PBX1	PBX homeobox 1	1q23.3	Rare single gene variant	4		15		8	De Rubeis S , et al. 2014	Edit
	GEN312	PDE4B	phosphodiesterase 4B, cAMP-specific	1p31.3	Functional	2		6		7	Braun NN , et al. 2007	Edit
	GEN972	PLPPR4	phospholipid phosphatase related 4	1p21.3-p21.2	Functional	2		7		7	Vogt J , et al. 2015	Edit
	GEN368	POGZ	Pogo transposable element with ZNF domain	1q21.3	Rare single gene variant	5		208		61	Neale BM , et al. 2012	Edit
	GEN528	POMGNT1	protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)	1p34.1	Syndromic	2	Yes	22		10	Yu TW , et al. 2013	Edit
	GEN458	PRSS38	serine protease 38	1q42.13	Genetic association	2		5		4	Connolly JJ , et al. 2012	Edit
	GEN848	PTBP2	polypyrimidine tract binding protein 2	1p21.3	Rare single gene variant	2	Yes	6		8	Doan RN , et al. 2016	Edit
	GEN540	PTGER3	prostaglandin E receptor 3	1p31.1	Rare single gene variant	2	Yes	2		2	Nava C , et al. 2013	Edit
	GEN205	PTGS2	prostaglandin-endoperoxide synthase 2	1q31.1	Genetic Association	2		3		8	Yoo HJ , et al. 2008	Edit
	GEN206	PTPRC	protein tyrosine phosphatase, receptor type, C	1q31.3-q32.1	Genetic Association	2		10		11	Pinto D , et al. 2010	Edit
	GEN724	PYHIN1	Pyrin and HIN domain family, member 1	1q23.1	Rare single gene variant	2		4		4	De Rubeis S , et al. 2014	Edit
	GEN394	RASSF5	Ras association domain family member 5	1q32.1	Genetic association	2		4		4	Anney R , et al. 2012	Edit
	GEN1358	RBBP5	RB binding protein 5, histone lysine methyltransferase complex subunit	1q32.1	Functional	2		4		5	Zhou X et al. 2022	Edit
	GEN519	RBM8A	RNA binding motif protein 8A	1q21.1	Multigenic CNV	2		2		6	Nguyen LS , et al. 2013	Edit
	GEN491	RERE	Arginine-glutamic acid dipeptide (RE) repeats	1p36.23	Rare single gene variant	4		38		17	Prasad A , et al. 2013	Edit
	GEN215	RGS7	regulator of G-protein signaling 7	1q43	Rare Single Gene variant		Yes	6		6	Pinto D , et al. 2010	Edit
	GEN217	RIMS3	regulating synaptic membrane exocytosis 3	1p34.2	Rare single gene variant	3		7		4	Kumar RA , et al. 2009	Edit
	GEN1050	SAMD11	sterile alpha motif domain containing 11	1p36.33	Rare single gene variant	2		11		4	Chapman NH , et al. 2015	Edit
	GEN954	SCP2	sterol carrier protein 2	1p32.3	Rare single gene variant	2		5		3	Sanders SJ , et al. 2012	Edit
	GEN460	SETDB1	SET domain, bifurcated 1	1q21.3	Rare single gene variant	3		16		5	Cukier HN , et al. 2012	Edit
	GEN1153	SKI	SKIproto-oncogene	1p36.33-p36.32	Rare single gene variant	4		10		7	De Rubeis S , et al. 2014	Edit
	GEN393	SLC22A15	Solute carrier family 22, member 15	1p13.1	Genetic association			1		1	Anney R , et al. 2012	Edit
	GEN464	SLC25A24	Solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 24	1p13.3	Functional	2		5		4	Anitha A , et al. 2012	Edit
	GEN575	SLC35A3	solute carrier family 35 member A3	1p21.2	Rare single gene variant	2	Yes	3		3	Edvardson S , et al. 2013	Edit
	GEN905	SLC45A1	solute carrier family 45 member 1	1p36.23	Rare single gene variant	2	Yes	8		6	Srour M , et al. 2017	Edit
	GEN1061	SPEN	spenfamily transcriptional repressor	1p36.21-p36.13	Rare single gene variant	5		97		16	Iossifov I et al. 2014	Edit
	GEN886	SRSF11	serine and arginine rich splicing factor 11	1p31.1	Rare single gene variant	2		7		6	De Rubeis S , et al. 2014	Edit
	GEN1179	TFB2M	transcription factor B2, mitochondrial	1q44	Rare single gene variant		Yes	1		1	Park CB et al. 2018	Edit
	GEN1104	TMEM39B	transmembrane protein 39B	1p35.2	Rare single gene variant	2		4		5	De Rubeis S , et al. 2014	Edit
	GEN697	TNN	tenascin N	1q25.1	Rare single gene variant	2		9		6	Li J , et al. 2015	Edit
	GEN468	TOMM20	Translocase of outer mitochondrial membrane 20 homolog (yeast)	1q42.3	Functional			0		1	Anitha A , et al. 2012	Edit
	GEN584	TRIM33	Tripartite motif containing 33	1p13.2	Genetic association/Functional	0		5		2	Xia K , et al. 2013	Edit
	GEN1360	UBAP2L	ubiquitin associated protein 2 like	1q21.3	Rare single gene variant	3		15		5	Iossifov I et al. 2014	Edit
	GEN935	USH2A	usherin	1q41	Rare single gene variant	3		24		10	Neale BM , et al. 2012	Edit
	GEN918	WDR26	WD repeat domain 26	1q42.11-q42.12	Rare single gene variant	3		33		10	Skraban CM , et al. 2017	Edit
	GEN1387	ZBTB18	zinc finger and BTB domain containing 18	1q44	Rare single gene variant	3		31		13	Feliciano P et al. 2019	Edit
	GEN1115	ZC3H11A	zinc finger CCCH-type containing 11A	1q32.1	Rare single gene variant	2		4		4	De Rubeis S , et al. 2014	Edit
	GEN293	ZSWIM5	zinc finger, SWIM-type containing 5	1p34.1	Rare Single Gene variant	2		4		3	Salyakina D , et al. 2011	Edit

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