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
	GEN1002	ARHGAP5	Rho GTPase activating protein 5	14q12	Rare single gene variant	4		12		8	Iossifov I et al. 2014	Edit
	GEN1423	BCL11B	BCL11 transcription factor B	14q32.2	Syndromic/Functional	4		85		12	Quentin Sabbagh 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
	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
	GEN334	CHD8	chromodomain helicase DNA binding protein 8	14q11.2	Multigenic CNV	5		345		138	O'Roak BJ , et al. 2012	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
	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
	GEN088	FBXO33	F-box protein 33	14q21.1	Genetic Association	0		6		6	Wang K , et al. 2009	Edit
	GEN094	FOXG1	Forkhead box G1	14q12	Syndromic	4		99		68	Kortm F , et al. 2011	Edit
	GEN505	GPHN	Gephyrin	14q23.3	Rare single gene variant	2		19		11	Prasad A , et al. 2013	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
	GEN763	IRF2BPL	Interferon regulatory factor 2 binding protein-like	14q24.3	Rare single gene variant	4		48		20	Sanders SJ , 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
	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
	GEN156	MDGA2	MAM domain containing glycosylphosphatidylinositol anchor 2	14q21.3	Genetic Association	2		21		10	Bucan M , et al. 2009	Edit
	GEN1509	NPAS3	neuronal PAS domain protein 3	14q13.1	Rare single gene variant	3		6		9	Congcong Chen et al.	Edit
	GEN305	NRXN3	neurexin 3	14q24.3-q31.1	Rare Single Gene variant	3		41		31	Vaags AK , et al. 2012	Edit
	GEN1012	PACS2	phosphofurin acidic cluster sorting protein 2	14q32.33	Rare single gene variant	4		44		14	Olson HE , et al. 2018	Edit
	GEN1489	PPP2R5C	protein phosphatase 2 regulatory subunit B'gamma	14q32.31	Genetic association	3		32		5	Iris Verbinnen et al. 2025	Edit
	GEN457	PRKD1	Protein kinase D1	14q12	Syndromic	2		11		7	Ellaway CJ , et al. 2012	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
	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
	GEN1145	SUPT16H	SPT16 homolog, facilitates chromatin remodeling subunit	14q11.2	Rare single gene variant	3		33		11	Iossifov I et al. 2014	Edit
	GEN1415	TGM1	transglutaminase 1	14q12	Rare single gene variant	3		25		4	Cirnigliaro M et al. 2023	Edit
	GEN914	TRAPPC6B	trafficking protein particle complex 6B	14q21.1	Rare single gene variant	2		30		9	Marin-Valencia I , et al. 2017	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
	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

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