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
	GEN1379	ABCE1	ATP binding cassette subfamily E member 1	4q31.21	Rare single gene variant	2		4		5	Satterstrom FK et al. 2020	Edit
	GEN587	ANK2	Ankyrin 2, neuronal	4q25-q26	Rare Single Gene variant	5		212		44	Iossifov I , et al. 2012	Edit
	GEN1250	ANKRD17	ankyrin repeat domain 17	4q13.3	Rare single gene variant	4		44		8	De Rubeis S , et al. 2014	Edit
	GEN424	ARHGAP24	Rho GTPase activating protein 24	4q21.23-q21.3	Rare single gene variant	2		2		2	Winiowiecka-Kowalnik B , et al. 2012	Edit
	GEN1002	ARHGAP5	Rho GTPase activating protein 5	14q12	Rare single gene variant	4		12		8	Iossifov I et al. 2014	Edit
	GEN831	ATP8A1	ATPase phospholipid transporting 8A1	4p13	Rare single gene variant	2		5		6	Kerr DJ , et al. 2016	Edit
	GEN1423	BCL11B	BCL11 transcription factor B	14q32.2	Syndromic/Functional	4		85		12	Quentin Sabbagh et al. 2024	Edit
	GEN1268	BMPR1B	bone morphogenetic protein receptor type 1B	4q22.3	Rare single gene variant	2		6		3	Wilfert AB et al. 2021	Edit
	GEN902	BST1	bone marrow stromal cell antigen 1	4p15.32	Multigenic CNV	0		5		6	Yokoyama S , et al. 2015	Edit
	GEN1435	CAMK2D	calcium/calmodulin dependent protein kinase II delta	4q26	Rare single gene variant	3		10		4	Pomme M F Rigter et al. 2024	Edit
	GEN735	CCDC88C	Coiled-coil domain containing 88C	14q32.11-q32.12	Rare single gene variant	2		15		11	Krumm N , et al. 2015	Edit
	GEN1035	CCNK	cyclin K	14q32.2	Syndromic	2		10		7	Fan Y , et al. 2018	Edit
	GEN1097	CCSER1	coiled-coil serine rich protein 1	4q22.1	Rare single gene variant	2		5		4	De Rubeis S , et al. 2014	Edit
	GEN328	CD38	CD38 molecule	4p15.32	Genetic Association	2		13		10	Munesue T , et al. 2010	Edit
	GEN657	CDC42BPB	CDC42 binding protein kinase beta (DMPK-like)	14q32.32	Rare single gene variant	4		39		13	O'Roak BJ , et al. 2012	Edit
	GEN958	CEP135	centrosomal protein 135	4q12	Syndromic	3		32		9	De Rubeis S , et al. 2014	Edit
	GEN334	CHD8	chromodomain helicase DNA binding protein 8	14q11.2	Multigenic CNV	5		345		138	O'Roak BJ , et al. 2012	Edit
	GEN1259	CLCN3	chloride voltage-gated channel 3	4q33	Rare single gene variant	3	Yes	17		7	Duncan AR et al. 2021	Edit
	GEN1121	CPZ	carboxypeptidase Z	4p16.1	Rare single gene variant	2		12		5	De Rubeis S , et al. 2014	Edit
	GEN1485	CRMP1	collapsin response mediator protein 1	4p16.2	Functional	3		10		9	Juan Liu et al. 2024	Edit
	GEN494	DAPP1	Dual adaptor of phosphotyrosine and 3-phosphoinositides	4q23	Rare single gene variant	2		4		3	Prasad A , et al. 2013	Edit
	GEN888	DYNC1H1	dynein cytoplasmic 1 heavy chain 1	14q32.31	Rare single gene variant	4		124		42	De Rubeis S , et al. 2014	Edit
	GEN077	EIF4E	eukaryotic translation initiation factor 4E	4q23	Rare single gene variant	2		9		15	Neves-Pereira M , et al. 2009	Edit
	GEN282	EML1	echinoderm microtubule associated protein like 1	14q32.2	Rare Single Gene variant	2		10		5	Schaaf CP , et al. 2011	Edit
	GEN083	ESR2	estrogen receptor 2 (ER beta)	14q23.2-q23.3	Syndromic	0		5		9	Chakrabarti B , et al. 2009	Edit
	GEN084	ESRRB	estrogen-related receptor beta	14q24.3	Genetic Association	0		6		9	Wang K , et al. 2009	Edit
	GEN680	EXOC5	exocyst complex component 5	14q22.3	Rare single gene variant	2		2		2	Li J , et al. 2015	Edit
	GEN338	FAT1	FAT atypical cadherin 1	4q35.2	Rare Single Gene variant	3		29		14	Neale BM , et al. 2012	Edit
	GEN088	FBXO33	F-box protein 33	14q21.1	Genetic Association	0		6		6	Wang K , et al. 2009	Edit
	GEN585	FGA	Fibrinogen alpha chain	4q31.3	Genetic association	0		8		6	Ro M , et al. 2013	Edit
	GEN094	FOXG1	Forkhead box G1	14q12	Syndromic	4		99		68	Kortm F , et al. 2011	Edit
	GEN1234	FRG1	FSHD region gene 1	4q35.2	Rare single gene variant	2		5		3	Alonso-Gonzalez A et al. 2021	Edit
	GEN1440	FRYL	FRY like transcription coactivator	4p11	Rare single gene variant	4		29		10	Xueyang Pan et al. 2024	Edit
	GEN1361	G3BP2	G3BP stress granule assembly factor 2	4q21.1	Rare single gene variant	3		9		7	Iossifov I et al. 2014	Edit
	GEN1504	GABRA2	gamma-aminobutyric acid type A receptor subunit alpha2	4p12	Rare single gene variant	3		13		7	Marie Adamo-Croux et al.	Edit
	GEN099	GABRA4	gamma-aminobutyric acid (GABA) A receptor, alpha 4	4p12	Genetic Association	2		14		10	Ma DQ , et al. 2005	Edit
	GEN100	GABRB1	gamma-aminobutyric acid (GABA) A receptor, beta 1	4p12	Genetic Association	2		9		9	Ma DQ , et al. 2005	Edit
	GEN505	GPHN	Gephyrin	14q23.3	Rare single gene variant	2		19		11	Prasad A , et al. 2013	Edit
	GEN1093	GRIA2	glutamate ionotropic receptor AMPA type subunit 2	4q32.1	Rare single gene variant	4		50		17	De Rubeis S , et al. 2014	Edit
	GEN283	GRID2	glutamate receptor, ionotropic, delta 2	4q22.1-q22.2	Rare Single Gene variant	2		26		12	Schaaf CP , et al. 2011	Edit
	GEN1324	GRK4	G protein-coupled receptor kinase 4	4p16.3	Rare single gene variant	2		5		6	Iossifov I et al. 2014	Edit
	GEN993	H2AZ1	H2A.Z variant histone 1	4q23	Genetic association			2		5	Shen T , et al. 2018	Edit
	GEN1488	HECTD1	HECT domain E3 ubiquitin protein ligase 1	14q12	Rare single gene variant	3		34		7	Gazelle Zerafati-Jahromi et al. 2025	Edit
	GEN1245	HNRNPD	heterogeneous nuclear ribonucleoprotein D	4q21.22	Rare single gene variant	4		15		5	Iossifov I et al. 2014	Edit
	GEN763	IRF2BPL	Interferon regulatory factor 2 binding protein-like	14q24.3	Rare single gene variant	4		48		20	Sanders SJ , et al. 2015	Edit
	GEN790	JAKMIP1	Janus kinase and microtubule interacting protein 1	4p16.1	Functional	2		9		10	Berg JM , et al. 2015	Edit
	GEN1392	KCNH5	potassium voltage-gated channel subfamily H member 5	14q23.2	Rare single gene variant	2		4		6	Veeramah KR , et al. 2013	Edit
	GEN1156	KIAA0232	KIAA0232	4p16.1	Rare single gene variant	3		5		4	Iossifov I et al. 2014	Edit
	GEN522	KIT	KIT proto-oncogene receptor tyrosine kinase	4q12	Syndromic	0		2		2	Kilsby AJ , et al. 2013	Edit
	GEN802	LRBA	LPS-responsive vesicle trafficking, beach and anchor containing	4q31.3	Rare single gene variant	3		24		12	Gai X , et al. 2011	Edit
	GEN145	LRFN5	leucine rich repeat and fibronectin type III domain containing 5	14q21.1	Genetic Association	2		8		8	Wang K , et al. 2009	Edit
	GEN690	LRP2BP	LRP2 binding protein	4q35.1	Rare single gene variant	2		2		2	Li J , et al. 2015	Edit
	GEN156	MDGA2	MAM domain containing glycosylphosphatidylinositol anchor 2	14q21.3	Genetic Association	2		21		10	Bucan M , et al. 2009	Edit
	GEN1500	METTL14	methyltransferase 14, N6-adenosine-methyltransferase non-catalytic subunit	4q26	Rare single gene variant	2		6		8	Loic Broix et al.	Edit
	GEN662	NAA15	N(alpha)-acetyltransferase 15, NatA auxiliary subunit	4q31.1	Rare single gene variant	5		108		33	De Rubeis S , et al. 2014	Edit
	GEN1509	NPAS3	neuronal PAS domain protein 3	14q13.1	Rare single gene variant	3		6		9	Congcong Chen et al.	Edit
	GEN1329	NPFFR2	neuropeptide FF receptor 2	4q13.3	Rare single gene variant	3		9		7	Iossifov I et al. 2014	Edit
	GEN663	NR3C2	Nuclear receptor subfamily 3, group C, member 2	4q31.23	Rare single gene variant	3		22		12	De Rubeis S , et al. 2014	Edit
	GEN305	NRXN3	neurexin 3	14q24.3-q31.1	Rare Single Gene variant	3		41		31	Vaags AK , et al. 2012	Edit
	GEN1229	NSD2	nuclear receptor binding SET domain protein 2	4p16.3	Rare single gene variant	4		40		16	Wang T et al. 2020	Edit
	GEN1012	PACS2	phosphofurin acidic cluster sorting protein 2	14q32.33	Rare single gene variant	4		44		14	Olson HE , et al. 2018	Edit
	GEN189	PCDH10	protocadherin 10	4q28.3	Rare Single Gene variant	2		7		12	Morrow EM , et al. 2008	Edit
	GEN1489	PPP2R5C	protein phosphatase 2 regulatory subunit B'gamma	14q32.31	Genetic association	3		32		5	Iris Verbinnen et al. 2025	Edit
	GEN1251	PPP3CA	protein phosphatase 3 catalytic subunit alpha	4q24	Syndromic	3		44		15	Myers CT et al. 2017	Edit
	GEN457	PRKD1	Protein kinase D1	14q12	Syndromic	2		11		7	Ellaway CJ , et al. 2012	Edit
	GEN1531	PRMT9	protein arginine methyltransferase 9	4q31.23	Rare single gene variant	2	Yes	35		4	Ariane Kröll-Hermi et al. 2025	Edit
	GEN953	PRPF39	pre-mRNA processing factor 39	14q21.2	Rare single gene variant	2		4		3	De Rubeis S , et al. 2014	Edit
	GEN1541	RALGAPA1	Ral GTPase activating protein catalytic subunit alpha 1	14q13.2	Rare single gene variant	3	Yes	12		7	Gülsüm Kayhan et al. 2026	Edit
	GEN1534	RAPGEF2	Rap guanine nucleotide exchange factor 2	4q32.1	Rare single gene variant	3		8		5	Ali H Bereshneh et al.	Edit
	GEN222	SCFD2	sec1 family domain containing 2	4q12	Rare Single Gene variant	0		8		5	Pinto D , et al. 2010	Edit
	GEN1315	SH3RF1	SH3 domain containing ring finger 1	4q32.3-q33	Rare single gene variant	3		22		6	Satterstrom FK et al. 2020	Edit
	GEN1281	SIPA1L1	signal induced proliferation associated 1 like 1	14q24.2	Rare single gene variant	2		8		5	Wilfert AB et al. 2021	Edit
	GEN957	SLC7A7	solute carrier family 7 member 7	14q11.2	Rare single gene variant	2		10		8	O'Roak BJ , et al. 2012	Edit
	GEN1283	SOS2	SOS Ras/Rho guanine nucleotide exchange factor 2	14q21.3	Syndromic	2		5		7	Wilfert AB et al. 2021	Edit
	GEN793	SPARCL1	SPARC like 1	4q22.1	Functional	2		15		5	De Rubeis S , et al. 2014	Edit
	GEN1145	SUPT16H	SPT16 homolog, facilitates chromatin remodeling subunit	14q11.2	Rare single gene variant	3		33		11	Iossifov I et al. 2014	Edit
	GEN1141	TBCK	TBC1 domain containing kinase	4q24	Syndromic	2		21		6	Bhoj EJ , et al. 2016	Edit
	GEN249	TDO2	tryptophan 2,3-dioxygenase	4q32.1	Genetic Association			5		4	Nabi R , et al. 2004	Edit
	GEN728	TET2	Tet methylcytosine dioxygenase 2	4q24	Rare single gene variant	3		10		8	Iossifov I et al. 2014	Edit
	GEN1415	TGM1	transglutaminase 1	14q12	Rare single gene variant	3		25		4	Cirnigliaro M et al. 2023	Edit
	GEN295	TNIP2	TNFAIP3 interacting protein 2	4p16.3	Rare Single Gene variant	2		3		2	Salyakina D , et al. 2011	Edit
	GEN914	TRAPPC6B	trafficking protein particle complex 6B	14q21.1	Rare single gene variant	2		30		9	Marin-Valencia I , et al. 2017	Edit
	GEN546	UBA6	Ubiquitin-like modifier activating enzyme 6	4q13.2	Functional	2		7		6	Lee PC , et al. 2013	Edit
	GEN275	UBR7	ubiquitin protein ligase E3 component n-recognin 7 (putative)	14q32.12	Rare Single Gene variant	2	Yes	5		4	Najmabadi H , et al. 2011	Edit
	GEN976	UNC79	unc-79 homolog, NALCN channel complex subunit	14q32.12	Rare single gene variant	3		23		10	Iossifov I et al. 2014	Edit
	GEN263	VASH1	vasohibin 1	14q24.3	Genetic Association			2		4	Wang K , et al. 2009	Edit
	GEN635	WDFY3	WD repeat and FYVE domain containing 3	4q21.23	Rare Single Gene variant	4		83		28	Iossifov I , et al. 2012	Edit
	GEN910	YY1	YY1transcription factor	14q32.2	Functional	3		42		12	Gabriele M , et al. 2017	Edit
	GEN1116	ZFYVE26	zinc finger FYVE-type containing 26	14q24.1	Rare single gene variant	3		9		7	De Rubeis S , et al. 2014	Edit
	GEN398	ZNF827	Zinc finger protein 827	4q31.21-q31.22	Genetic association	2		5		4	Anney R , et al. 2012	Edit

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