Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 8239
Gene Symbol: USP9X
USP9X
0.010 Biomarker disease BEFREE These findings reveal a SNX17/USP9X mediated pathway essential for the homeostasis of centriolar satellites under serum starvation, and provide insight into the mechanism of USP9X in ciliogenesis, which may lead to a better understating of USP9X-deficiency-related human diseases such as X-linked mental retardation and neurodegenerative diseases. 31671755 2019
Entrez Id: 7157
Gene Symbol: TP53
TP53
0.010 Biomarker disease BEFREE Additionally, expression of proteins encoded by alpha-thalassemia X-linked mental retardation (ATRX) and TP53 genes was assessed by immunohistochemistry. 29218432 2018
Entrez Id: 947
Gene Symbol: CD34
CD34
0.010 AlteredExpression disease BEFREE Neoplastic cells showed positivity for glial fibrillary acidic protein (GFAP), oligodendrocyte transcription factor 2 (OLIG2), α-thalasemia X-linked mental retardation syndrome (ATRX) (retained nuclear expression) and CD34. 30051533 2018
Entrez Id: 10215
Gene Symbol: OLIG2
OLIG2
0.010 Biomarker disease BEFREE Neoplastic cells showed positivity for glial fibrillary acidic protein (GFAP), oligodendrocyte transcription factor 2 (OLIG2), α-thalasemia X-linked mental retardation syndrome (ATRX) (retained nuclear expression) and CD34. 30051533 2018
Entrez Id: 2670
Gene Symbol: GFAP
GFAP
0.010 Biomarker disease BEFREE Neoplastic cells showed positivity for glial fibrillary acidic protein (GFAP), oligodendrocyte transcription factor 2 (OLIG2), α-thalasemia X-linked mental retardation syndrome (ATRX) (retained nuclear expression) and CD34. 30051533 2018
Entrez Id: 80853
Gene Symbol: KDM7A
KDM7A
0.010 GeneticVariation disease BEFREE Components of the KDM7 family of histone demethylases are implicated in neuronal development and one member, PHF8, is often found to be mutated in cases of X-linked mental retardation. 28126843 2017
Entrez Id: 7012
Gene Symbol: TERC
TERC
0.010 AlteredExpression disease BEFREE We studied telomere length abnormalities, telomerase RNA component (TERC) expression, alpha-thalassemia X-linked mental retardation (ATRX) expression, and death domain-associated protein (DAXX) expression in gastroenteropancreatic neuroendocrine tumors (GEP-NETs). 26026117 2015
Entrez Id: 1616
Gene Symbol: DAXX
DAXX
0.010 AlteredExpression disease BEFREE We studied telomere length abnormalities, telomerase RNA component (TERC) expression, alpha-thalassemia X-linked mental retardation (ATRX) expression, and death domain-associated protein (DAXX) expression in gastroenteropancreatic neuroendocrine tumors (GEP-NETs). 26026117 2015
Entrez Id: 11043
Gene Symbol: MID2
MID2
0.010 GeneticVariation disease BEFREE We report a novel missense mutation (c.1040G>A, p.Arg347Gln) in MID2, which encodes ubiquitin ligase E3, as the likely cause of X-linked mental retardation in a large kindred. 24115387 2014
Entrez Id: 799
Gene Symbol: CALCR
CALCR
0.010 Biomarker disease BEFREE The second-largest cause of X-linked mental retardation is a deficiency in creatine transporter (CRT; encoded by SLC6A8), which leads to speech and language disorders with severe cognitive impairment. 22751104 2012
Entrez Id: 811
Gene Symbol: CALR
CALR
0.010 Biomarker disease BEFREE The second-largest cause of X-linked mental retardation is a deficiency in creatine transporter (CRT; encoded by SLC6A8), which leads to speech and language disorders with severe cognitive impairment. 22751104 2012
Entrez Id: 79594
Gene Symbol: MUL1
MUL1
0.010 Biomarker disease BEFREE Mutation in CUL4B, which encodes a scaffold protein of the E3 ubiquitin ligase complex, has been found in patients with X-linked mental retardation (XLMR). 22763239 2012
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
0.010 Biomarker disease BEFREE Mutation in CUL4B, which encodes a scaffold protein of the E3 ubiquitin ligase complex, has been found in patients with X-linked mental retardation (XLMR). 22763239 2012
Entrez Id: 158506
Gene Symbol: CBLL2
CBLL2
0.010 Biomarker disease BEFREE Mutation in CUL4B, which encodes a scaffold protein of the E3 ubiquitin ligase complex, has been found in patients with X-linked mental retardation (XLMR). 22763239 2012
Entrez Id: 6595
Gene Symbol: SMARCA2
SMARCA2
0.010 GeneticVariation disease BEFREE ATRX is a member of the Snf2 family of chromatin-remodelling proteins and is mutated in an X-linked mental retardation syndrome associated with alpha-thalassaemia (ATR-X syndrome). 21505078 2011
Entrez Id: 414
Gene Symbol: ARSD
ARSD
0.010 Biomarker disease BEFREE Examination of published literature revealed point mutations in DIA1R are associated with X-linked mental retardation (XLMR) and DIA1R deletion is associated with syndromes with ASD-like traits and/or XLMR. 21264219 2011
Entrez Id: 55540
Gene Symbol: IL17RB
IL17RB
0.010 GeneticVariation disease BEFREE We discuss the unexpected association of defective CUL4B with syndromal X-linked mental retardation in humans and speculate on the biochemical consequences and clinical implications of defective CRL4 function. 21352845 2011
Entrez Id: 8409
Gene Symbol: UXT
UXT
0.010 Biomarker disease BEFREE Nine genes (APLN, ZC4H2, MAGED4, MAGED4B, RAP2C, FAM156A, FAM156B, TBL1X, and UXT) were highlighted as highly-ranked XLMR methods. 21668950 2011
Entrez Id: 10243
Gene Symbol: GPHN
GPHN
0.010 GeneticVariation disease BEFREE CB mutations cause X-linked mental retardation due to defective clustering of gephyrin, a postsynaptic protein associated with both glycine and GABA(A) receptors. 21807943 2011
Entrez Id: 6597
Gene Symbol: SMARCA4
SMARCA4
0.010 GeneticVariation disease BEFREE ATRX is a member of the Snf2 family of chromatin-remodelling proteins and is mutated in an X-linked mental retardation syndrome associated with alpha-thalassaemia (ATR-X syndrome). 21505078 2011
Entrez Id: 5132
Gene Symbol: PDC
PDC
0.010 Biomarker disease BEFREE PHF8 (PHD (plant homeo domain) finger protein 8) is a JmjC domain-containing protein and its mutations have been found in patients with XLMR and craniofacial deformities. 20622853 2010
Entrez Id: 51481
Gene Symbol: VCX3A
VCX3A
0.010 Biomarker disease BEFREE We recently demonstrated that VCX-A, a protein implicated in X-linked mental retardation, is an RNA-binding protein that specifically binds the 5' end of capped mRNAs to prevent their decapping and decay. 19812318 2009
Entrez Id: 10075
Gene Symbol: HUWE1
HUWE1
0.010 GeneticVariation disease LHGDN Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation. 18252223 2008
Entrez Id: 23186
Gene Symbol: RCOR1
RCOR1
0.010 GeneticVariation disease BEFREE Notably, missense mutations in MED12 causing the X-linked mental retardation (XLMR) disorders FG syndrome and Lujan syndrome disrupt its REST corepressor function. 18691967 2008
Entrez Id: 2002
Gene Symbol: ELK1
ELK1
0.010 GeneticVariation disease BEFREE About 30% of the mutations causing nonsyndromic X-linked mental retardation (MRX) are thought to be located in Xp11 and in the pericentromeric region, with a particular clustering of gene defects in a 7.4 Mb interval flanked by the genes ELK1 and ALAS2. 16969374 2007