Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 347344
Gene Symbol: ZNF81
ZNF81 		0.300 Biomarker disease CLINGEN
Entrez Id: 57502
Gene Symbol: NLGN4X
NLGN4X 		0.100 CausalMutation disease CLINVAR
Entrez Id: 8905
Gene Symbol: AP1S2
AP1S2 		0.300 Biomarker disease CLINGEN New X-linked mental retardation disorder with Dandy-Walker malformation, basal ganglia disease, and seizures. 2018058 1991
Entrez Id: 24140
Gene Symbol: FTSJ1
FTSJ1 		0.300 Biomarker disease CLINGEN Localization of a gene responsible for nonspecific mental retardation (MRX9) to the pericentromeric region of the X chromosome. 8288232 1993
Entrez Id: 2664
Gene Symbol: GDI1
GDI1 		0.300 Biomarker disease CLINGEN A gene for dominant nonspecific X-linked mental retardation is located in Xq28. 9106537 1997
Entrez Id: 2664
Gene Symbol: GDI1
GDI1 		0.300 Biomarker disease CLINGEN Mutations in GDI1 are responsible for X-linked non-specific mental retardation. 9620768 1998
Entrez Id: 2664
Gene Symbol: GDI1
GDI1 		0.300 Biomarker disease CLINGEN Non-specific X-linked semidominant mental retardation by mutations in a Rab GDP-dissociation inhibitor. 9668174 1998
Entrez Id: 8905
Gene Symbol: AP1S2
AP1S2 		0.300 Biomarker disease CLINGEN Regional localization of a nonspecific X-linked mental retardation gene (MRX59) to Xp21.2-p22.2. 10398241 1999
Entrez Id: 24140
Gene Symbol: FTSJ1
FTSJ1 		0.300 Biomarker disease CLINGEN Four families (MRX43, MRX44, MRX45, MRX52) with nonspecific X-linked mental retardation: clinical and psychometric data and results of linkage analysis. 10398246 1999
Entrez Id: 9459
Gene Symbol: ARHGEF6
ARHGEF6 		0.300 Biomarker disease CLINGEN Mutations in ARHGEF6, encoding a guanine nucleotide exchange factor for Rho GTPases, in patients with X-linked mental retardation. 11017088 2000
Entrez Id: 2182
Gene Symbol: ACSL4
ACSL4 		0.300 Biomarker disease CLINGEN FACL4, encoding fatty acid-CoA ligase 4, is mutated in nonspecific X-linked mental retardation. 11889465 2002
Entrez Id: 186
Gene Symbol: AGTR2
AGTR2 		0.300 Biomarker disease CLINGEN AGTR2 mutations in X-linked mental retardation. 12089445 2002
Entrez Id: 24140
Gene Symbol: FTSJ1
FTSJ1 		0.300 Biomarker disease CLINGEN Family MRX9 revisited: further evidence for locus heterogeneity in MRX. 12239714 2002
Entrez Id: 2182
Gene Symbol: ACSL4
ACSL4 		0.300 Biomarker disease CLINGEN A third MRX family (MRX68) is the result of mutation in the long chain fatty acid-CoA ligase 4 (FACL4) gene: proposal of a rapid enzymatic assay for screening mentally retarded patients. 12525535 2003
Entrez Id: 8905
Gene Symbol: AP1S2
AP1S2 		0.300 Biomarker disease CLINGEN Syndromic form of X-linked mental retardation with marked hypotonia in early life, severe mental handicap, and difficult adult behavior maps to Xp22. 12599187 2003
Entrez Id: 24140
Gene Symbol: FTSJ1
FTSJ1 		0.300 Biomarker disease CLINGEN Mutations in the FTSJ1 gene coding for a novel S-adenosylmethionine-binding protein cause nonsyndromic X-linked mental retardation. 15162322 2004
Entrez Id: 1741
Gene Symbol: DLG3
DLG3 		0.300 Biomarker disease CLINGEN Mutations in the DLG3 gene cause nonsyndromic X-linked mental retardation. 15185169 2004
Entrez Id: 24140
Gene Symbol: FTSJ1
FTSJ1 		0.300 Biomarker disease CLINGEN A splice site mutation in the methyltransferase gene FTSJ1 in Xp11.23 is associated with non-syndromic mental retardation in a large Belgian family (MRX9). 15342698 2004
Entrez Id: 1756
Gene Symbol: DMD
DMD 		0.010 GeneticVariation disease BEFREE The three X chromosome aberrations in the patient include: a pericentric inversion (inv 1) that disrupted the Duchenne muscular dystrophy (DMD) gene, dystrophin, at Xp11.4; an Xq11.2q21.32 approximately q22.2 paracentric inversion (inv 2) putatively affecting no genes; and an interstitial deletion at Xq22.3 that results in functional nullisomy of several known genes, including a gene previously associated with X-linked nonsyndromic mental retardation, acyl-CoA synthetase long chain family member 4 (ACSL4). 16276108 2006
Entrez Id: 8905
Gene Symbol: AP1S2
AP1S2 		0.300 Biomarker disease CLINGEN Mutations in the gene encoding the Sigma 2 subunit of the adaptor protein 1 complex, AP1S2, cause X-linked mental retardation. 17186471 2006
Entrez Id: 9459
Gene Symbol: ARHGEF6
ARHGEF6 		0.300 Biomarker disease CLINGEN MLPA as first screening method for the detection of microduplications and microdeletions in patients with X-linked mental retardation. 17304053 2007
Entrez Id: 1741
Gene Symbol: DLG3
DLG3 		0.300 Biomarker disease CLINGEN Synapse-associated protein 102/dlgh3 couples the NMDA receptor to specific plasticity pathways and learning strategies. 17344405 2007
Entrez Id: 8905
Gene Symbol: AP1S2
AP1S2 		0.300 Biomarker disease CLINGEN Mutations in the AP1S2 gene encoding the sigma 2 subunit of the adaptor protein 1 complex are associated with syndromic X-linked mental retardation with hydrocephalus and calcifications in basal ganglia. 17617514 2007
Entrez Id: 24140
Gene Symbol: FTSJ1
FTSJ1 		0.300 Biomarker disease CLINGEN A loss-of-function mutation in the FTSJ1 gene causes nonsyndromic X-linked mental retardation in a Japanese family. 18081026 2008
Entrez Id: 10075
Gene Symbol: HUWE1
HUWE1 		0.300 Biomarker disease CLINGEN Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation. 18252223 2008