Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Mental Retardation, X-Linked Nonsyndromic
0.300 Biomarker disease CLINGEN Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability. 26350204 2015
Mental Retardation, X-Linked Nonsyndromic
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
Mental Retardation, X-Linked Nonsyndromic
0.300 Biomarker disease CLINGEN FACL4, encoding fatty acid-CoA ligase 4, is mutated in nonspecific X-linked mental retardation. 11889465 2002
Mental Retardation, X-Linked Nonsyndromic
0.300 Biomarker disease CLINGEN The XLMR gene ACSL4 plays a role in dendritic spine architecture. 19166906 2009
Mental Retardation, X-Linked Nonsyndromic
0.300 Biomarker disease CLINGEN Acsl, the Drosophila ortholog of intellectual-disability-related ACSL4, inhibits synaptic growth by altered lipids. 27656110 2016
Mental Retardation, X-Linked Nonsyndromic
0.300 Biomarker disease CLINGEN Analyses of mental dysfunction-related ACSl4 in Drosophila reveal its requirement for Dpp/BMP production and visual wiring in the brain. 19617635 2009
Mental Retardation, X-Linked Nonsyndromic
0.300 Biomarker disease CLINGEN dAcsl, the Drosophila ortholog of acyl-CoA synthetase long-chain family member 3 and 4, inhibits synapse growth by attenuating bone morphogenetic protein signaling via endocytic recycling. 24553921 2014