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
	GEN749	ABCA10	ATP-binding cassette, sub-family A (ABC1), member 10	17q24.3	Rare single gene variant	2	Yes	8		3	Lim ET , et al. 2013	Edit
	GEN822	ACE	angiotensin I converting enzyme	17q23.3	Rare single gene variant	2		9		5	Firouzabadi N et al. 2016	Edit
	GEN024	BAIAP2	BAI1-associated protein 2	17q25.3	Genetic Association	2		11		15	Toma C , et al. 2010	Edit
	GEN034	CACNA1G	calcium channel, voltage-dependent, T type, alpha 1G subunit	17q21.33	Genetic Association	3		50		27	Strom SP , et al. 2009	Edit
	GEN1200	CACNB1	calcium voltage-gated channel auxiliary subunit beta 1	17q12	Rare single gene variant	2		10		3	Trost B et al. 2020	Edit
	GEN1373	CAMTA2	calmodulin binding transcription activator 2	17p13.2	Syndromic	2		3		3	Zhou X et al. 2022	Edit
	GEN1396	CBX1	chromobox 1	17q21.32	Rare single gene variant	3		6		3	Kuroda Y et al. 2023	Edit
	GEN1048	CHD3	chromodomain helicase DNA binding protein 3	17p13.1	Rare single gene variant	4		112		17	Iossifov I et al. 2014	Edit
	GEN330	CSNK1D	casein kinase 1, delta	17q25.3	Rare Single Gene variant	2		5		4	Pinto D , et al. 2010	Edit
	GEN412	DLG4	discs large MAGUK scaffold protein 4	17p13.1	Functional	5		84		25	Feyder M , et al. 2010	Edit
	GEN1063	DLX3	distal-less homeobox 3	17q21.33	Rare single gene variant	2		7		4	Iossifov I et al. 2014	Edit
	GEN937	DNAH17	dynein axonemal heavy chain 17	17q25.3	Rare single gene variant	3		20		9	De Rubeis S , et al. 2014	Edit
	GEN1425	EIF5A	eukaryotic translation initiation factor 5A	17p13.1	Rare single gene variant	2		10		4	et al.	Edit
	GEN1158	GFAP	glial fibrillary acidic protein	17q21.31	Rare single gene variant	2		3		1	Satterstrom FK et al. 2020	Edit
	GEN997	GGNBP2	gametogenetin binding protein 2	17q12	Rare single gene variant	3		4		3	De Rubeis S , et al. 2014	Edit
	GEN123	HOXB1	homeobox B1	17q21.32	Genetic Association	0		1		9	Ingram JL , et al. 2000	Edit
	GEN137	ITGB3	integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	17q21.32	Genetic association	2		16		22	Weiss LA , et al. 2006	Edit
	GEN1136	KANSL1	KAT8 regulatory NSL complex subunit 1	17q21.31	Rare single gene variant	3		32		13	Koolen DA , et al. 2015	Edit
	GEN686	KCNJ12	potassium voltage-gated channel subfamily J member 12	17p11.2	Rare single gene variant	0		4		2	Li J , et al. 2015	Edit
	GEN614	KCNJ2	Potassium inwardly-rectifying channel, subfamily J, member 2	17q24.3	Rare Single Gene variant	3		4		4	Ambrosini E , et al. 2014	Edit
	GEN648	KDM6B	Lysine (K)-specific demethylase 6B	17p13.1	Rare single gene variant	5		132		22	Iossifov I , et al. 2012	Edit
	GEN956	KRT26	keratin 26	17q21.2	Rare single gene variant	3		40		4	Krumm N , et al. 2015	Edit
	GEN1239	MAPT	microtubule associated protein tau	17q21.31	Genetic association	2		2		4	Grove J , et al. 2019	Edit
	GEN1206	MAPT-AS1	MAPT antisense RNA 1	17q21.31	Genetic association			1		1	Matoba N et al. 2020	Edit
	GEN884	MED13	mediator complex subunit 13	17q23.2	Rare single gene variant	4		39		14	Iossifov I et al. 2014	Edit
	GEN1328	MINK1	misshapen like kinase 1	17p13.2	Rare single gene variant	3		17		8	Iossifov I et al. 2014	Edit
	GEN780	MNT	MAX network transcriptional repressor	17p13.3	Genetic association			2		1	Kuo PH , et al. 2015	Edit
	GEN1036	MYH10	myosin heavy chain 10	17p13.1	Rare single gene variant	3		12		8	Willsey AJ , et al. 2013	Edit
	GEN502	MYH4	Myosin, heavy chain 4, skeletal muscle	17p13.1	Rare single gene variant	2		10		7	Prasad A , et al. 2013	Edit
	GEN1202	MYOCD	myocardin	17p12	Rare single gene variant	2		8		3	Trost B et al. 2020	Edit
	GEN855	NCOR1	nuclear receptor corepressor 1	17p12-p11.2	Rare single gene variant	4		60		12	Iossifov I , et al. 2012	Edit
	GEN1256	NEUROD2	neuronal differentiation 2	17q12	Rare single gene variant	4		10		4	Sega AG et al. 2019	Edit
	GEN169	NF1	neurofibromin 1 (neurofibromatosis, von Recklinghausen disease, Watson disease)	17q11.2	Rare Single Gene variant, Genetic Association	5		48		39	Marui T , et al. 2004	Edit
	GEN627	NLGN2	Neuroligin 2	17p13.1	Rare single gene variant	3		7		13	Whr M , et al. 2012	Edit
	GEN175	NOS2	nitric oxide synthase 2	17q11.2	Genetic Association	2		8		10	Kim HW , et al. 2008	Edit
	GEN898	NR1D1	nuclear receptor subfamily 1 group D member 1	17q21.1	Rare single gene variant	2		8		4	Yang Z , et al. 2015	Edit
	GEN768	P2RX5	Purinergic receptor P2X, ligand gated ion channel, 5	17p13.2	Rare single gene variant	2		4		5	Sanders SJ , et al. 2015	Edit
	GEN630	PAFAH1B1	Platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)	17p13.3	Functional	0		10		9	Sudarov A , et al. 2013	Edit
	GEN1068	PDK2	pyruvate dehydrogenase kinase 2	17q21.33	Rare single gene variant	2		4		6	Iossifov I et al. 2014	Edit
	GEN193	PER1	period homolog 1 (Drosophila)	17p13.1	Genetic Association	2		12		9	Nicholas B , et al. 2007	Edit
	GEN1151	PHF12	PHD finger protein 12	17q11.2	Rare single gene variant	4		25		5	Satterstrom FK et al. 2020	Edit
	GEN1312	POLR2A	RNA polymerase II subunit A	17p13.1	Rare single gene variant	3		39		11	Neale BM , et al. 2012	Edit
	GEN901	PPM1D	protein phosphatase, Mg2+/Mn2+ dependent 1D	17q23.2	Rare single gene variant	2		64		10	Sanders SJ , et al. 2012	Edit
	GEN359	PPP1R1B	Protein phosphatase 1, regulatory (inhibitor) subunit 1B	17q12	Genetic association	2		4		2	Hettinger JA , et al. 2012	Edit
	GEN1165	PPP1R9B	protein phosphatase 1 regulatory subunit 9B	17q21.33	Rare single gene variant	2		8		4	Satterstrom FK et al. 2020	Edit
	GEN1072	PRKCA	protein kinase C alpha	17q24.2	Rare single gene variant	2		7		7	De Rubeis S , et al. 2014	Edit
	GEN1337	PRPF8	pre-mRNA processing factor 8	17p13.3	Rare single gene variant	3		25		9	Iossifov I et al. 2014	Edit
	GEN1372	PSMD11	proteasome 26S subunit, non-ATPase 11	17q11.2	Rare single gene variant	2		4		2	Zhou X et al. 2022	Edit
	GEN867	PSMD12	proteasome 26S subunit, non-ATPase 12	17q24.2	Syndromic	3		16		5	Kry S , et al. 2017	Edit
	GEN208	RAI1	retinoic acid induced 1	17p11.2	Syndromic	4		32		36	Nakamine A , et al. 2007	Edit
	GEN560	RASD1	ras related dexamethasone induced 1	17p11.2	Functional			0		1	Lacaria M , et al. 2013	Edit
	GEN774	RNF135	Ring finger protein 135	17q11.2	Syndromic	0		11		5	Tastet J , et al. 2015	Edit
	GEN739	SCN4A	Sodium channel, voltage gated, type IV alpha subunit	17q23.3	Rare single gene variant	2		7		6	Iossifov I et al. 2014	Edit
	GEN601	SGSH	N-sulfoglucosamine sulfohydrolase	17q25.3	Syndromic	0		8		8	Rumsey RK , et al. 2014	Edit
	GEN331	SLC16A3	solute carrier family 16, member 3 (monocarboxylic acid transporter 4)	17q25.3	Rare Single Gene variant	2		5		3	Pinto D , et al. 2010	Edit
	GEN952	SLC25A39	solute carrier family 25 member 39	17q21.31	Rare single gene variant	2		12		3	Iossifov I , et al. 2012	Edit
	GEN908	SLC35B1	solute carrier family 35 member B1	17q21.33	Genetic association			2		1	Cantor RM , et al. 2017	Edit
	GEN270	SLC38A10	solute carrier family 38, member 10	17q25.3	Rare Single Gene variant	2		5		3	Celestino-Soper PB , et al. 2011	Edit
	GEN402	SLC39A11	solute carrier family 39 member 11	17q24.3-q25.1	Genetic association	2		2		2	Anney R , et al. 2012	Edit
	GEN235	SLC6A4	solute carrier family 6 (neurotransmitter transporter, serotonin), member 4	17q11.2	Genetic Association	2		51		31	Cook EH Jr , et al. 1997	Edit
	GEN1413	SLFN5	schlafen family member 5	17q12	Rare single gene variant	2		9		4	Cirnigliaro M et al. 2023	Edit
	GEN520	SMG6	SMG6, nonsense mediated mRNA decay factor	17p13.3	Multigenic CNV	3		9		4	Nguyen LS , et al. 2013	Edit
	GEN1395	SRSF1	serine and arginine rich splicing factor 1	17q22	Rare single gene variant	2		19		4	Bogaert E et al. 2023	Edit
	GEN878	TANC2	etratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	17q23.2-q23.3	Rare single gene variant	4		42		16	Iossifov I et al. 2014	Edit
	GEN1140	TAOK1	TAO kinase 1	17q11.2	Rare single gene variant	4		55		13	De Rubeis S , et al. 2014	Edit
	GEN421	THRA	thyroid hormone receptor alpha	17q21.1	Functional	2		3		5	Pilhatsch M , et al. 2010	Edit
	GEN252	TLK2	tousled-like kinase 2	17q23.2	Rare Single Gene variant	4		65		22	O'Roak BJ , et al. 2011	Edit
	GEN1299	TNRC6C	trinucleotide repeat containing adaptor 6C	17q25.3	Rare single gene variant	3		16		6	Iossifov I et al. 2014	Edit
	GEN026	TSPOAP1	TSPO associated protein 1	17q22	Rare Single Gene variant	2		15		7	Bucan M , et al. 2009	Edit
	GEN1082	VAMP2	vesicle associated membrane protein 2	17p13.1	Rare single gene variant	2		8		4	Salpietro V , et al. 2019	Edit
	GEN1157	VEZF1	vascular endothelial zinc finger 1	17q22	Rare single gene variant	2		2		3	De Rubeis S , et al. 2014	Edit
	GEN501	YWHAE	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon	17p13.3	Multigenic CNV			3		5	Prasad A , et al. 2013	Edit
	GEN352	ZNF18	zinc finger protein 18	17p12	Rare single gene variant	2	Yes	7		2	Chahrour MH , et al. 2012	Edit

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