Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4983
Gene Symbol: OPHN1
OPHN1
0.400 Biomarker disease BEFREE OPHN1 was first determined to be one of the genes associated with X-linked mental retardation; however, neither the gene's function nor the link between its expression and survival of patients has been investigated. 25170626 2015
Entrez Id: 4983
Gene Symbol: OPHN1
OPHN1
0.400 Biomarker disease BEFREE OPHN1 is involved in X-linked mental retardation (XLMR) with cerebellar hypoplasia and encodes a Rho-GTPase-activating protein called oligophrenin-1, which is produced throughout the developing mouse brain and in the hippocampus and Purkinje cells of the cerebellum in adult mice. 23416624 2014
Entrez Id: 10084
Gene Symbol: PQBP1
PQBP1
0.400 Biomarker disease BEFREE Polyglutamine tract binding protein-1, a causative gene for X-linked mental retardation, is also involved in RNA metabolism, and both mutation and duplication of the gene were reported in human patients. 22901698 2013
Entrez Id: 1741
Gene Symbol: DLG3
DLG3
0.400 GeneticVariation disease BEFREE We also analyzed ACSL4 and DLG3, which have previously been known to cause XLMR and IL1RAPL2, a homologous gene for IL1RAPL1 that is mutated in autism and XLMR. 21384559 2011
Entrez Id: 1741
Gene Symbol: DLG3
DLG3
0.400 GeneticVariation disease BEFREE High rates (>80%) of correct classification was achieved, suggesting that the identification of these motifs effectively captures genomic signals associated with XLMR vs. non-XLMR genes. 21668950 2011
Entrez Id: 4983
Gene Symbol: OPHN1
OPHN1
0.400 GeneticVariation disease BEFREE Mutations in the OPHN1 cause XLMR with cerebellar hypoplasia and distinctive facial appearance. 20528889 2011
Entrez Id: 10084
Gene Symbol: PQBP1
PQBP1
0.400 Biomarker disease BEFREE PQBP1-linked microcephaly (or Renpenning syndrome) is an X-linked mental retardation syndrome, which has clinically recognizable features. 20950397 2011
Entrez Id: 546
Gene Symbol: ATRX
ATRX
0.400 GeneticVariation disease BEFREE Mutation of the ATRX gene leads to X-linked alpha-thalassemia/mental retardation (ATR-X) syndrome and several other X-linked mental retardation syndromes. 21218045 2011
Entrez Id: 546
Gene Symbol: ATRX
ATRX
0.400 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: 1741
Gene Symbol: DLG3
DLG3
0.400 GeneticVariation disease BEFREE This study should help to identify the novel XLMR genes and mechanisms leading to MR and reveal the clinical conditions and genomic background of XLMR. 20613765 2011
Entrez Id: 10084
Gene Symbol: PQBP1
PQBP1
0.400 GeneticVariation disease BEFREE A novel frame shift mutation in the PQBP1 gene identified in a Tunisian family with X-linked mental retardation. 21315190 2011
Entrez Id: 546
Gene Symbol: ATRX
ATRX
0.400 GeneticVariation disease BEFREE Mutations in the ATRX gene are associated with X-linked mental retardation (XLMR) often accompanied by alpha thalassemia (ATRX syndrome). 20110566 2010
Entrez Id: 10084
Gene Symbol: PQBP1
PQBP1
0.400 Biomarker disease BEFREE Our study provides significant insight into the early events contributing to the pathogenesis of the PQBP1 related XLMR disease. 19847789 2010
Entrez Id: 546
Gene Symbol: ATRX
ATRX
0.400 Biomarker disease BEFREE Detailed comparison of the clinical characteristics and the function of the genes located in the commonly duplicated regions of these patients led us to the hypothesis that an increased dosage of ATRX and perhaps of other genes is involved in the pathogenetic mechanism of this XLMR phenotype, including mental retardation, short stature, and genital abnormalities comprising cryptorchidism and/or a small penis. 19291773 2009
Entrez Id: 546
Gene Symbol: ATRX
ATRX
0.400 Biomarker disease BEFREE ATRX is an SWI/SNF-like chromatin remodeling protein that is mutated in several X-linked mental retardation syndromes, including the ATR-X syndrome. 19088125 2009
Entrez Id: 10084
Gene Symbol: PQBP1
PQBP1
0.400 GeneticVariation disease BEFREE Mutations in PQBP1 were recently identified in families with syndromic and non-syndromic X-linked mental retardation (XLMR). 16493439 2009
Entrez Id: 10084
Gene Symbol: PQBP1
PQBP1
0.400 Biomarker disease BEFREE Dysfunction of lipid metabolism might underlie lean body, one of the most frequent symptoms associating with PQBP1-linked MR patients. 19119319 2009
Entrez Id: 546
Gene Symbol: ATRX
ATRX
0.400 Biomarker disease CTD_human Detailed comparison of the clinical characteristics and the function of the genes located in the commonly duplicated regions of these patients led us to the hypothesis that an increased dosage of ATRX and perhaps of other genes is involved in the pathogenetic mechanism of this XLMR phenotype, including mental retardation, short stature, and genital abnormalities comprising cryptorchidism and/or a small penis. 19291773 2009
Entrez Id: 4983
Gene Symbol: OPHN1
OPHN1
0.400 GeneticVariation disease BEFREE We recommend screening of the OPHN1 gene in male patients with XLMR and cerebellar anomalies. 18261018 2008
Entrez Id: 4983
Gene Symbol: OPHN1
OPHN1
0.400 GeneticVariation disease BEFREE Previously, the OPHN1 gene has been shown to be responsible for recessive X-linked mental retardation. 17941886 2008
Entrez Id: 4983
Gene Symbol: OPHN1
OPHN1
0.400 Biomarker disease CTD_human Previously, the OPHN1 gene has been shown to be responsible for recessive X-linked mental retardation. 17941886 2008
Entrez Id: 546
Gene Symbol: ATRX
ATRX
0.400 Biomarker disease BEFREE ATRX is a SWI/SNF-like chromatin remodeling protein mutated in several X-linked mental retardation syndromes. 17957225 2008
Entrez Id: 546
Gene Symbol: ATRX
ATRX
0.400 Biomarker disease BEFREE This illustrates an important mechanism by which skewed XCI may occur in carriers of XLMR and provides insight into the normal role of ATRX in regulating cell fate. 17503331 2007
Entrez Id: 546
Gene Symbol: ATRX
ATRX
0.400 Biomarker disease BEFREE Point mutations within the methylated DNA-binding domain of MeCP2 that cause Rett syndrome or X-linked mental retardation inhibit its interaction with ATRX in vitro and its localization in vivo without affecting methyl-CpG binding. 17296936 2007
Entrez Id: 1741
Gene Symbol: DLG3
DLG3
0.400 GeneticVariation disease BEFREE X-linked mental retardation has been traditionally divided into syndromic (S-XLMR) and non-syndromic forms (NS-XLMR), although the borderlines between these phenotypes begin to vanish and mutations in a single gene, for example PQBP1, can cause S-XLMR as well as NS-XLMR. 17033686 2007