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
	GEN289	AFF2	AF4/FMR2 family, member 2	Xq28	Syndromic	3		46		21	Abrams MT , et al. 1997	Edit
	GEN007	AGTR2	angiotensin II receptor, type 2	Xq23	Rare Single Gene variant	2		8		5	Vervoort VS , et al. 2002	Edit
	GEN531	AP1S2	adaptor related protein complex 1 sigma 2 subunit	Xp22.2	Syndromic	2		11		7	Borck G , et al. 2008	Edit
	GEN014	AR	androgen receptor	Xq12	Genetic Association			3		6	Henningsson S , et al. 2009	Edit
	GEN715	ARHGEF9	Cdc42 guanine nucleotide exchange factor (GEF) 9	Xq11.1-q11.2	Rare single gene variant	4		46		18	Machado CO , et al. 2015	Edit
	GEN017	ARX	aristaless related homeobox	Xp21.3	Rare single gene variant	3		62		27	Sherr EH 2003	Edit
	GEN018	ASMT	acetylserotonin O-methyltransferase	Xp22.33	Rare Single Gene variant, Genetic Association	3		22		11	Melke J , et al. 2007	Edit
	GEN288	ATRX	alpha thalassemia/mental retardation syndrome X-linked	Xq21.1	Syndromic	3		45		33	Gibbons R 2006	Edit
	GEN1084	BCORL1	BCL6 corepressor like 1	Xq26.1	Rare single gene variant	3		14		8	Shukla A , et al. 2019	Edit
	GEN1132	BRWD3	bromodomain and WD repeat domain containing 3	Xq21.1	Syndromic	3		26		9	Field M , et al. 2007	Edit
	GEN033	CACNA1F	calcium channel, voltage-dependent, alpha 1F	Xp11.23	Genetic Association	2		9		9	Strom TM , et al. 1998	Edit
	GEN876	CASK	calcium/calmodulin dependent serine protein kinase	Xp11.4	Syndromic	3		45		28	Iossifov I et al. 2014	Edit
	GEN380	CD99L2	CD99 molecule like 2	Xq28	Genetic association			2		1	Ramos PS , et al. 2012	Edit
	GEN1365	CDK16	cyclin dependent kinase 16	Xp11.3	Rare single gene variant	2		4		3	Satterstrom FK et al. 2020	Edit
	GEN046	CDKL5	cyclin-dependent kinase-like 5	Xp22.13	Syndromic	4	Yes	127		58	Weaving LS , et al. 2004	Edit
	GEN1186	CHM	CHMRab escort protein	Xq21.2	Rare single gene variant	3		12		7	C Yuen RK et al. 2017	Edit
	GEN1118	CLCN4	chloride voltage-gated channel 4	Xp22.2	Syndromic	4		71		11	Feliciano P et al. 2019	Edit
	GEN865	CNKSR2	connector enhancer of kinase suppressor of Ras 2	Xp22.12	Syndromic	4		33		14	et al. 2017	Edit
	GEN055	CXCR3	chemokine (C-X-C motif) receptor 3	Xq13.1	Rare Single Gene variant	2		4		9	Piton A , et al. 2010	Edit
	GEN061	DCX	doublecortin	Xq23	Rare Single Gene variant	2		13		13	Vourc'h P , et al. 2002	Edit
	GEN745	DDX3X	DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked	Xp11.4	Rare single gene variant	5		340		53	Snijders Blok L , et al. 2015	Edit
	GEN332	DDX53	DEAD (Asp-Glu-Ala-Asp) box polypeptide 53	Xp22.11	Rare Single Gene variant	2		9		5	Pinto D , et al. 2010	Edit
	GEN833	DGKK	diacylglycerol kinase kappa	Xp11.22	Functional			0		1	Tabet R , et al. 2016	Edit
	GEN070	DMD	dystrophin (muscular dystrophy, Duchenne and Becker types)	Xp21.2-p21.1	Syndromic	3		49		46	Wu JY , et al. 2006	Edit
	GEN895	FAM47A	family with sequence similarity 47 member A	Xp21.1	Rare single gene variant	2		4		1	C Yuen RK et al. 2017	Edit
	GEN287	FGD1	FYVE, RhoGEF and PH domain containing 1	Xp11.22	Rare Single Gene variant	2		7		6	Orrico A , et al. 2005	Edit
	GEN1237	FGF13	fibroblast growth factor 13	Xq26.3	Syndromic	2		6		2	Fry AE et al. 2021	Edit
	GEN1402	FLNA	filamin A	Xq28	Multigenic CNV/Functional	2		10		11	Miyake N et al. 2023	Edit
	GEN093	FMR1	fragile X mental retardation 1	Xq27.3	Functional	3		50		67	Rogers SJ , et al. 2002	Edit
	GEN098	FRMPD4	FERM and PDZ domain containing 4	Xp22.2	Rare Single Gene variant	2		10		9	Piton A , et al. 2010	Edit
	GEN481	GABRA3	Gamma-aminobutyric acid (GABA) A receptor, alpha 3	Xq28	Rare Single Gene variant	0		9		3	Piton A , et al. 2012	Edit
	GEN480	GABRQ	Gamma-aminobutyric acid (GABA) A receptor, theta	Xq28	Rare Single Gene variant	2		4		4	Piton A , et al. 2012	Edit
	GEN104	GLRA2	glycine receptor, alpha 2	Xp22.2	Rare Single Gene variant	3		21		17	Piton A , et al. 2010	Edit
	GEN849	GPC4	glypican 4	Xq26.2	Rare single gene variant		Yes	2		2	Doan RN , et al. 2016	Edit
	GEN1083	GPRASP2	G protein-coupled receptor associated sorting protein 2	Xq22.1	Rare single gene variant	0		2		3	Edfawy M , et al. 2019	Edit
	GEN1295	GRIA3	glutamate ionotropic receptor AMPA type subunit 3	Xq25	Syndromic	3		45		16	Wu Y et al. 2007	Edit
	GEN114	GRPR	Gastrin-releasing peptide receptor	Xp22.2	Genetic Association	2		6		8	Ishikawa-Brush Y , et al. 1997	Edit
	GEN430	HCFC1	host cell factor C1	Xq28	Syndromic	2		23		12	Huang L , et al. 2012	Edit
	GEN482	HDAC6	histone deacetylase 6	Xp11.23	Rare Single Gene variant	2		2		7	Piton A , et al. 2012	Edit
	GEN1024	HDAC8	histone deacetylase 8	Xq13.1	Syndromic	2		7		12	Deardorff MA , et al. 2012	Edit
	GEN121	HNRNPH2	heterogeneous nuclear ribonucleoprotein H2	Xq22.1	Rare Single Gene variant	4		70		20	Piton A , et al. 2010	Edit
	GEN432	HUWE1	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	Xp11.22	Syndromic	4		53		27	Nava C , et al. 2012	Edit
	GEN133	IL1RAPL1	interleukin 1 receptor accessory protein-like 1	Xp21.3-p21.2	Rare single gene variant	3		33		27	Bhat SS , et al. 2007	Edit
	GEN302	IL1RAPL2	interleukin 1 receptor accessory protein-like 2	Xq22.3	Genetic Association			4		2	Chung RH , et al. 2011	Edit
	GEN542	IQSEC2	IQ motif and Sec7 domain 2	Xp11.22	Syndromic	5		158		51	Shoubridge C , et al. 2010	Edit
	GEN435	KDM5C	lysine demethylase 5C	Xp11.22	Syndromic	3		59		41	Adegbola A , et al. 2008	Edit
	GEN896	KDM6A	lysine demethylase 6A	Xp11.3	Syndromic	3		18		14	C Yuen RK et al. 2017	Edit
	GEN1185	LAS1L	LAS1 like ribosome biogenesis factor	Xq12	Syndromic	0		4		5	Tran KT et al. 2020	Edit
	GEN1427	MAGEC3	MAGE family member C3	Xq27.2	Rare single gene variant	2		4		4	et al.	Edit
	GEN405	MAGED1	MAGE family member D1	Xp11.22	Functional	2		2		3	Dombret C , et al. 2012	Edit
	GEN149	MAOA	monoamine oxidase A	Xp11.3	Genetic Association	2		17		20	Cohen IL , et al. 2003	Edit
	GEN524	MAOB	monoamine oxidase B	Xp11.3	Multigenic CNV	0		7		6	Saito M , et al. 2013	Edit
	GEN157	MECP2	Methyl CpG binding protein 2	Xq28	Syndromic	5		288		130	Amir RE , et al. 1999	Edit
	GEN158	MED12	mediator complex subunit 12	Xq13.1	Genetic Association	3		48		32	Beyer KS , et al. 2002	Edit
	GEN1225	MSL3	MSL complex subunit 3	Xp22.2	Rare single gene variant	4		36		6	Brunet T et al. 2020	Edit
	GEN379	MSN	Moesin	Xq12	Functional			1		3	Kerin T , et al. 2012	Edit
	GEN1397	NAA10	N-alpha-acetyltransferase 10, NatA catalytic subunit	Xq28	Syndromic/Functional	4		83		13	Lyon GJ et al. 2023	Edit
	GEN538	NEXMIF	neurite extension and migration factor	Xq13.3	Rare single gene variant	4		113		36	Cantagrel V , et al. 2004	Edit
	GEN171	NLGN3	neuroligin 3	Xq13.1	Rare Single Gene variant	3		37		49	Jamain S , et al. 2003	Edit
	GEN172	NLGN4X	neuroligin 4, X-linked	Xp22.32-p22.31	Rare Single Gene variant	4		55		44	Jamain S , et al. 2003	Edit
	GEN483	NXF5	nuclear RNA export factor 5	Xq22.1	Rare Single Gene variant	0		2		4	Piton A , et al. 2012	Edit
	GEN818	OCRL	oculocerebrorenal syndrome of Lowe	Xq26.1	Syndromic	2		7		10	Kenworthy L , et al. 1993	Edit
	GEN961	OFD1	OFD1, centriole and centriolar satellite protein	Xp22.2	Rare single gene variant	3		6		5	Krumm N , et al. 2015	Edit
	GEN547	OGT	O-linked N-acetylglucosamine (GlcNAc) transferase	Xq13.1	Functional	0		4		5	Howerton CL , et al. 2013	Edit
	GEN184	OPHN1	oligophrenin 1	Xq12	Rare Single Gene variant	2		23		19	Piton A , et al. 2010	Edit
	GEN894	PCDH11X	protocadherin 11 X-linked	Xq21.31	Rare single gene variant	2		5		4	Lim ET , et al. 2013	Edit
	GEN190	PCDH19	protocadherin 19	Xq22.1	Syndromic	4		238		59	Piton A , et al. 2010	Edit
	GEN1429	PDHA1	pyruvate dehydrogenase E1 subunit alpha 1	Xp22.12	Rare single gene variant	2		4		5	et al.	Edit
	GEN192	PDZD4	PDZ domain containing 4	Xq28	Rare Single Gene variant	0		4		5	Piton A , et al. 2010	Edit
	GEN456	PHF8	PHD finger protein 8	Xp11.22	Syndromic	3		33		13	Nava C , et al. 2012	Edit
	GEN1189	PJA1	praja ring finger ubiquitin ligase 1	Xq13.1	Syndromic	2		7		1	Suzuki T et al. 2020	Edit
	GEN962	PLXNA3	plexin A3	Xq28	Rare single gene variant	3		26		8	Krumm N , et al. 2015	Edit
	GEN200	PPP1R3F	protein phosphatase 1, regulatory (inhibitor) subunit 3F	Xp11.23	Rare Single Gene variant	2		18		7	Piton A , et al. 2010	Edit
	GEN202	PSMD10	proteasome (prosome, macropain) 26S subunit, non-ATPase, 10	Xq22.3	Rare Single Gene variant	2		2		7	Piton A , et al. 2010	Edit
	GEN203	PTCHD1	patched domain containing 1	Xp22.11	Rare Single Gene variant	3		69		22	Marshall CR , et al. 2008	Edit
	GEN1129	PTCHD1-AS	PTCHD1antisense RNA (head to head)	Xp22.11	Rare single gene variant			3		3	Noor A , et al. 2010	Edit
	GEN207	RAB39B	RAB39B, member RAS oncogene family	Xq28	Rare Single Gene variant	3		17		19	Giannandrea M , et al. 2010	Edit
	GEN216	RHOXF1	Rhox homeobox family, member 1	Xq24	Genetic Association			2		3	Wang K , et al. 2009	Edit
	GEN708	RLIM	Ring finger protein, LIM domain interacting	Xq13.2	Rare single gene variant	2		19		6	Tnne E , et al. 2015	Edit
	GEN220	RPL10	ribosomal protein L10	Xq28	Rare single gene variant	3		10		14	Klauck SM , et al. 2006	Edit
	GEN591	RPS6KA3	Ribosomal protein S6 kinase, 90kDa, polypeptide 3	Xp22.12	Syndromic	3		17		19	O'Roak BJ , et al. 2012	Edit
	GEN228	SH3KBP1	SH3-domain kinase binding protein 1	Xp22.12	Rare Single Gene variant	2		3		5	Piton A , et al. 2010	Edit
	GEN821	SHOX	short stature homeobox	Yp11.2	Rare single gene variant	2		28		3	Tropeano M , et al. 2016	Edit
	GEN463	SLC25A14	Solute carrier family 25 (mitochondrial carrier, brain), member 14	Xq26.1	Functional	2		2		3	Anitha A , et al. 2012	Edit
	GEN236	SLC6A8	solute carrier family 6 (neurotransmitter transporter, creatine), member 8	Xq28	Rare Single Gene variant	3		28		25	Po-Argelles P , et al. 2006	Edit
	GEN744	SLC7A3	Solute carrier family 7 (cationic amino acid transporter, y+ system), member 3	Xq13.1	Rare single gene variant	2		4		2	Nava C , et al. 2015	Edit
	GEN237	SLC9A6	solute carrier family 9 (sodium/hydrogen exchanger), member 6	Xq26.3	Syndromic	2		36		22	Garbern JY , et al. 2010	Edit
	GEN1339	SLITRK2	SLIT and NTRK like family member 2	Xq27.3	Rare single gene variant	3		16		8	El Chehadeh S et al. 2022	Edit
	GEN913	SMC1A	structural maintenance of chromosomes 1A	Xp11.22	Syndromic	2		34		18	Huisman S , et al. 2017	Edit
	GEN504	SYAP1	Synapse associated protein 1	Xp22.2	Rare single gene variant			3		2	Prasad A , et al. 2013	Edit
	GEN243	SYN1	Synapsin 1	Xp11.3-p11.23	Rare Single Gene variant	4		42		28	Fassio A , et al. 2011	Edit
	GEN1184	SYP	synaptophysin	Xp11.23	Rare single gene variant	2		3		4	Satterstrom FK et al. 2020	Edit
	GEN792	TAF1	TATA-box binding protein associated factor 1	Xq13.1	Rare single gene variant	3		66		17	O'Rawe JA , et al. 2015	Edit
	GEN301	TBL1X	transducin (beta)-like 1X-linked	Xp22.31-p22.2	Genetic Association			3		1	Chung RH , et al. 2011	Edit
	GEN1181	TBX22	T-box transcription factor 22	Xq21.1	Rare single gene variant	2		3		2	Iossifov I et al. 2014	Edit
	GEN1367	TCEAL1	transcription elongation factor A like 1	Xq22.2	Syndromic	2		13		4	Hijazi H et al. 2022	Edit
	GEN1291	TFE3	transcription factor binding to IGHM enhancer 3	Xp11.23	Syndromic	3		21		5	Villegas F et al. 2019	Edit
	GEN269	TMLHE	trimethyllysine hydroxylase, epsilon	Xq28	Rare Single Gene variant	3		14		10	Celestino-Soper PB , et al. 2011	Edit
	GEN1366	TRPC5	transient receptor potential cation channel subfamily C member 5	Xq23	Rare single gene variant	2		8		7	de Ligt J , et al. 2012	Edit
	GEN259	TSPAN7	tetraspanin 7	Xp11.4	Rare Single Gene variant	2		9		9	Piton A , et al. 2010	Edit
	GEN364	UPF3B	UPF3B, regulator of nonsense mediated mRNA decay	Xq24	Syndromic	3		31		18	Tarpey PS , et al. 2007	Edit
	GEN1437	USP27X	ubiquitin specific peptidase 27 X-linked	Xp11.23	Rare single gene variant	3		15		6	et al.	Edit
	GEN1126	USP9X	ubiquitin specific peptidase 9 X-linked	Xp11.4	Syndromic	3		72		17	Homan CC , et al. 2014	Edit
	GEN751	VSIG4	V-set and immunoglobulin domain containing 4	Xq12	Rare single gene variant	2		3		3	Lim ET , et al. 2013	Edit
	GEN264	WNK3	WNK lysine deficient protein kinase 3	Xp11.22	Rare Single Gene variant	2		3		7	Piton A , et al. 2010	Edit
	GEN1436	ZFX	zinc finger protein X-linked	Xp22.11	Rare single gene variant	3		19		4	et al.	Edit
	GEN1383	ZMYM3	zinc finger MYM-type containing 3	Xq13.1	Syndromic	3		29		8	Hiatt SM et al. 2023	Edit
	GEN1297	ZNF711	zinc finger protein 711	Xq21.1	Rare single gene variant	2		10		5	van der Werf IM et al. 2017	Edit

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