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	4		34		15	Abrams MT , et al. 1997	Edit
	GEN007	AGTR2	angiotensin II receptor, type 2	Xq23	Rare Single Gene variant	2		6		3	Vervoort VS , et al. 2002	Edit
	GEN531	AP1S2	adaptor related protein complex 1 sigma 2 subunit	Xp22.2	Syndromic	2		9		5	Borck G , et al. 2008	Edit
	GEN014	AR	androgen receptor	Xq12	Genetic Association	0		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	2		26		10	Machado CO , et al. 2015	Edit
	GEN017	ARX	aristaless related homeobox	Xp21.3	Rare single gene variant	2		36		17	Sherr EH 2003	Edit
	GEN018	ASMT	acetylserotonin O-methyltransferase	Xp22.33	Rare Single Gene variant, Genetic Association	3		20		9	Melke J , et al. 2007	Edit
	GEN288	ATRX	alpha thalassemia/mental retardation syndrome X-linked	Xq21.1	Syndromic	2		33		20	Gibbons R 2006	Edit
	GEN1084	BCORL1	BCL6 corepressor like 1	Xq26.1	Rare single gene variant	3		5		3	Shukla A , et al. 2019	Edit
	GEN033	CACNA1F	calcium channel, voltage-dependent, alpha 1F	Xp11.23	Genetic Association	0		6		7	Strom TM , et al. 1998	Edit
	GEN876	CASK	calcium/calmodulin dependent serine protein kinase	Xp11.4	Syndromic	2		27		15	Iossifov I , et al. 2014	Edit
	GEN380	CD99L2	CD99 molecule like 2	Xq28	Genetic association	0		2		1	Ramos PS , et al. 2012	Edit
	GEN046	CDKL5	cyclin-dependent kinase-like 5	Xp22.13	Syndromic	4	Yes	98		36	Weaving LS , et al. 2004	Edit
	GEN865	CNKSR2	connector enhancer of kinase suppressor of Ras 2	Xp22.12	Syndromic	3		12		5	Deciphering Developmental Disorders Study 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	0		9		10	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	4		104		19	Snijders Blok L , et al. 2015	Edit
	GEN332	DDX53	DEAD (Asp-Glu-Ala-Asp) box polypeptide 53	Xp22.11	Rare Single Gene variant	3		7		3	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		35		37	Wu JY , et al. 2006	Edit
	GEN895	FAM47A	family with sequence similarity 47 member A	Xp21.1	Rare single gene variant	2		2		1	C Yuen RK , et al. 2017	Edit
	GEN287	FGD1	FYVE, RhoGEF and PH domain containing 1	Xp11.22	Rare Single Gene variant	0		4		3	Orrico A , et al. 2005	Edit
	GEN093	FMR1	fragile X mental retardation 1	Xq27.3	Functional	3		34		42	Rogers SJ , et al. 2002	Edit
	GEN098	FRMPD4	FERM and PDZ domain containing 4	Xp22.2	Rare Single Gene variant	2		7		6	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		2		2	Piton A , et al. 2012	Edit
	GEN104	GLRA2	glycine receptor, alpha 2	Xp22.2	Rare Single Gene variant	3		7		15	Piton A , et al. 2010	Edit
	GEN849	GPC4	glypican 4	Xq26.2	Rare single gene variant	3	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
	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	0		19		9	Huang L , et al. 2012	Edit
	GEN482	HDAC6	histone deacetylase 6	Xp11.23	Rare Single Gene variant	2		1		6	Piton A , et al. 2012	Edit
	GEN1024	HDAC8	histone deacetylase 8	Xq13.1	Syndromic	0		1		6	Deardorff MA , et al. 2012	Edit
	GEN121	HNRNPH2	heterogeneous nuclear ribonucleoprotein H2	Xq22.1	Rare Single Gene variant	2		10		6	Piton A , et al. 2010	Edit
	GEN432	HUWE1	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	Xp11.22	Syndromic	3		33		12	Nava C , et al. 2012	Edit
	GEN133	IL1RAPL1	interleukin 1 receptor accessory protein-like 1	Xp21.3-p21.2	Rare single gene variant	3		23		22	Bhat SS , et al. 2007	Edit
	GEN302	IL1RAPL2	interleukin 1 receptor accessory protein-like 2	Xq22.3	Genetic Association	0		4		2	Chung RH , et al. 2011	Edit
	GEN542	IQSEC2	IQ motif and Sec7 domain 2	Xp11.22	Syndromic	4		92		25	Shoubridge C , et al. 2010	Edit
	GEN435	KDM5C	lysine demethylase 5C	Xp11.22	Syndromic	3		32		22	Adegbola A , et al. 2008	Edit
	GEN896	KDM6A	lysine demethylase 6A	Xp11.3	Syndromic	3		8		7	C Yuen RK , et al. 2017	Edit
	GEN405	MAGED1	MAGE family member D1	Xp11.22	Functional	0		1		2	Dombret C , et al. 2012	Edit
	GEN149	MAOA	monoamine oxidase A	Xp11.3	Genetic Association	3		13		15	Cohen IL , et al. 2003	Edit
	GEN524	MAOB	monoamine oxidase B	Xp11.3	Multigenic CNV	0		6		5	Saito M , et al. 2013	Edit
	GEN157	MECP2	Methyl CpG binding protein 2	Xq28	Syndromic	5		174		80	Amir RE , et al. 1999	Edit
	GEN158	MED12	mediator complex subunit 12	Xq13.1	Genetic Association	2		19		20	Beyer KS , et al. 2002	Edit
	GEN379	MSN	Moesin	Xq12	Functional			0		1	Kerin T , et al. 2012	Edit
	GEN538	NEXMIF	neurite extension and migration factor	Xq13.3	Rare single gene variant	4		36		19	Cantagrel V , et al. 2004	Edit
	GEN171	NLGN3	neuroligin 3	Xq13.1	Rare Single Gene variant	4		33		34	Jamain S , et al. 2003	Edit
	GEN172	NLGN4X	neuroligin 4, X-linked	Xp22.32-p22.31	Rare Single Gene variant	4		42		33	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		4		7	Kenworthy L , et al. 1993	Edit
	GEN961	OFD1	OFD1, centriole and centriolar satellite protein	Xp22.2	Rare single gene variant	2		2		2	Krumm N , et al. 2015	Edit
	GEN547	OGT	O-linked N-acetylglucosamine (GlcNAc) transferase	Xq13.1	Functional	0		3		4	Howerton CL , et al. 2013	Edit
	GEN184	OPHN1	oligophrenin 1	Xq12	Rare Single Gene variant	2		17		15	Piton A , et al. 2010	Edit
	GEN894	PCDH11X	protocadherin 11 X-linked	Xq21.31	Rare single gene variant	2		2		2	Lim ET , et al. 2013	Edit
	GEN190	PCDH19	protocadherin 19	Xq22.1	Syndromic	5		211		34	Piton A , et al. 2010	Edit
	GEN192	PDZD4	PDZ domain containing 4	Xq28	Rare Single Gene variant	0		2		4	Piton A , et al. 2010	Edit
	GEN456	PHF8	PHD finger protein 8	Xp11.22	Syndromic	2		8		8	Nava C , et al. 2012	Edit
	GEN962	PLXNA3	plexin A3	Xq28	Rare single gene variant	3		6		3	Krumm N , et al. 2015	Edit
	GEN200	PPP1R3F	protein phosphatase 1, regulatory (inhibitor) subunit 3F	Xp11.23	Rare Single Gene variant	2		3		4	Piton A , et al. 2010	Edit
	GEN202	PSMD10	proteasome (prosome, macropain) 26S subunit, non-ATPase, 10	Xq22.3	Rare Single Gene variant	0		1		6	Piton A , et al. 2010	Edit
	GEN203	PTCHD1	patched domain containing 1	Xp22.11	Rare Single Gene variant	4		53		11	Marshall CR , et al. 2008	Edit
	GEN207	RAB39B	RAB39B, member RAS oncogene family	Xq28	Rare Single Gene variant	3		12		12	Giannandrea M , et al. 2010	Edit
	GEN216	RHOXF1	Rhox homeobox family, member 1	Xq24	Genetic Association	2		2		3	Wang K , et al. 2009	Edit
	GEN708	RLIM	Ring finger protein, LIM domain interacting	Xq13.2	Rare single gene variant	2		9		4	Tnne E , et al. 2015	Edit
	GEN220	RPL10	ribosomal protein L10	Xq28	Rare single gene variant	3		7		13	Klauck SM , et al. 2006	Edit
	GEN591	RPS6KA3	Ribosomal protein S6 kinase, 90kDa, polypeptide 3	Xp22.12	Syndromic	2		6		9	O'Roak BJ , et al. 2012	Edit
	GEN228	SH3KBP1	SH3-domain kinase binding protein 1	Xp22.12	Rare Single Gene variant	0		1		4	Piton A , et al. 2010	Edit
	GEN821	SHOX	short stature homeobox	Yp11.2	Rare single gene variant	3		27		2	Tropeano M , et al. 2016	Edit
	GEN463	SLC25A14	Solute carrier family 25 (mitochondrial carrier, brain), member 14	Xq26.1	Functional			0		1	Anitha A , et al. 2012	Edit
	GEN236	SLC6A8	solute carrier family 6 (neurotransmitter transporter, creatine), member 8	Xq28	Rare Single Gene variant	3		14		12	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		26		15	Garbern JY , et al. 2010	Edit
	GEN913	SMC1A	structural maintenance of chromosomes 1A	Xp11.22	Syndromic	0		17		6	Huisman S , et al. 2017	Edit
	GEN504	SYAP1	Synapse associated protein 1	Xp22.2	Rare single gene variant	0		3		2	Prasad A , et al. 2013	Edit
	GEN243	SYN1	Synapsin 1	Xp11.3-p11.23	Rare Single Gene variant	3		12		19	Fassio A , et al. 2011	Edit
	GEN792	TAF1	TATA-box binding protein associated factor 1	Xq13.1	Rare single gene variant	0		15		4	O'Rawe JA , et al. 2015	Edit
	GEN301	TBL1X	transducin (beta)-like 1X-linked	Xp22.31-p22.2	Genetic Association	0		3		1	Chung RH , et al. 2011	Edit
	GEN269	TMLHE	trimethyllysine hydroxylase, epsilon	Xq28	Rare Single Gene variant	3		10		5	Celestino-Soper PB , et al. 2011	Edit
	GEN259	TSPAN7	tetraspanin 7	Xp11.4	Rare Single Gene variant	0		8		7	Piton A , et al. 2010	Edit
	GEN364	UPF3B	UPF3B, regulator of nonsense mediated mRNA decay	Xq24	Syndromic	3		14		12	Tarpey PS , et al. 2007	Edit
	GEN751	VSIG4	V-set and immunoglobulin domain containing 4	Xq12	Rare single gene variant	2		2		2	Lim ET , et al. 2013	Edit
	GEN264	WNK3	WNK lysine deficient protein kinase 3	Xp11.22	Rare Single Gene variant	0		1		6	Piton A , et al. 2010	Edit

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