Human Gene Search Results

Unique ID	Gene Symbol	Gene Name	Chromosome Loc	Genetic Category	Gene Ranking	Biallelic	# of Variants	# of Reports	Primary Reference	Display
GEN1002	ARHGAP5	Rho GTPase activating protein 5	14q12	Rare single gene variant	3		10	6	Iossifov I et al. 2014	Edit
GEN1423	BCL11B	BCL11 transcription factor B	14q32.2	Syndromic/Functional	3		42	7	et al.	Edit
GEN735	CCDC88C	Coiled-coil domain containing 88C	14q32.11-q32.12	Rare single gene variant	3		13	9	Krumm N , et al. 2015	Edit
GEN1035	CCNK	cyclin K	14q32.2	Syndromic	2		9	6	Fan Y , et al. 2018	Edit
GEN657	CDC42BPB	CDC42 binding protein kinase beta (DMPK-like)	14q32.32	Rare single gene variant	4		38	12	O'Roak BJ , et al. 2012	Edit
GEN334	CHD8	chromodomain helicase DNA binding protein 8	14q11.2	Multigenic CNV	5		315	104	O'Roak BJ , et al. 2012	Edit
GEN888	DYNC1H1	dynein cytoplasmic 1 heavy chain 1	14q32.31	Rare single gene variant	4		73	36	De Rubeis S , et al. 2014	Edit
GEN282	EML1	echinoderm microtubule associated protein like 1	14q32.2	Rare Single Gene variant	2		9	4	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		3	4	Wang K , et al. 2009	Edit
GEN094	FOXG1	Forkhead box G1	14q12	Syndromic	4		88	57	Kortm F , et al. 2011	Edit
GEN505	GPHN	Gephyrin	14q23.3	Rare single gene variant	2		18	10	Prasad A , et al. 2013	Edit
GEN763	IRF2BPL	Interferon regulatory factor 2 binding protein-like	14q24.3	Rare single gene variant	4		37	16	Sanders SJ , et al. 2015	Edit
GEN1392	KCNH5	potassium voltage-gated channel subfamily H member 5	14q23.2	Rare single gene variant	2		4	5	Veeramah KR , et al. 2013	Edit
GEN145	LRFN5	leucine rich repeat and fibronectin type III domain containing 5	14q21.1	Genetic Association	2		7	7	Wang K , et al. 2009	Edit
GEN156	MDGA2	MAM domain containing glycosylphosphatidylinositol anchor 2	14q21.3	Genetic Association	2		21	9	Bucan M , et al. 2009	Edit
GEN305	NRXN3	neurexin 3	14q24.3-q31.1	Rare Single Gene variant	3		36	27	Vaags AK , et al. 2012	Edit
GEN1012	PACS2	phosphofurin acidic cluster sorting protein 2	14q32.33	Rare single gene variant	4		40	10	Olson HE , et al. 2018	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
GEN1281	SIPA1L1	signal induced proliferation associated 1 like 1	14q24.2	Rare single gene variant	3		8	5	Wilfert AB et al. 2021	Edit
GEN957	SLC7A7	solute carrier family 7 member 7	14q11.2	Rare single gene variant	2		7	6	O'Roak BJ , et al. 2012	Edit
GEN1283	SOS2	SOS Ras/Rho guanine nucleotide exchange factor 2	14q21.3	Syndromic	2		5	6	Wilfert AB et al. 2021	Edit
GEN1145	SUPT16H	SPT16 homolog, facilitates chromatin remodeling subunit	14q11.2	Rare single gene variant	2		9	8	Iossifov I et al. 2014	Edit
GEN1415	TGM1	transglutaminase 1	14q12	Rare single gene variant	3		24	3	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	4	3	Najmabadi H , et al. 2011	Edit
GEN976	UNC79	unc-79 homolog, NALCN channel complex subunit	14q32.12	Rare single gene variant	4		22	9	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		40	9	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