Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2931498
Disease: Mental Retardation, X-Linked 1
Mental Retardation, X-Linked 1
0.330 Biomarker disease BEFREE As skewed X-inactivation, an apparently constant feature in FACL4 carrier females was not observed in an obligate carrier belonging to the MRX family presented here, the PAK3 gene should be considered as the strongest candidate for this MRX locus. 12949969 2003
CUI: C2931498
Disease: Mental Retardation, X-Linked 1
Mental Retardation, X-Linked 1
0.330 GermlineCausalMutation disease ORPHANET FACL4, encoding fatty acid-CoA ligase 4, is mutated in nonspecific X-linked mental retardation. 11889465 2002
CUI: C2931498
Disease: Mental Retardation, X-Linked 1
Mental Retardation, X-Linked 1
0.330 GeneticVariation disease BEFREE 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
CUI: C2931498
Disease: Mental Retardation, X-Linked 1
Mental Retardation, X-Linked 1
0.330 AlteredExpression disease BEFREE Interestingly, expression of an MRX-associated ACSL4 mutant form in a wild-type background led to the lesions in visual center, suggesting a dominant negative effect. 19617635 2009