Disease: Intellectual Disability ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.160 Biomarker group BEFREE As Drosophila Acsl and human ACSL4 are functionally conserved, our findings provide novel insights into a critical and previously unappreciated role of Acsl in neurogenesis and the pathogenesis of ACSL4-related ID. 30594466 2019
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.160 GeneticVariation group BEFREE Xq22.3-q23 deletion including ACSL4 in a patient with intellectual disability. 23520119 2013
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.160 GeneticVariation group BEFREE We also compared the clinical features of the family with three previously reported families with the ACSL4 gene deletion and found that ID with absent or severely delayed speech, midface hypoplasia, and facial hypotonia are consistent features observed in the absence of ACSL4 gene. 20186809 2010
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.160 GeneticVariation group BEFREE FACL4 gene mutations in three Italian MR pedigrees have been reported as causing non-specific mental retardation. 18614287 2008
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.160 Biomarker group BEFREE FACL4 is the first gene shown to be involved in nonspecific mental retardation and fatty-acid metabolism. 11889465 2002
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.160 Biomarker group BEFREE FACL4, a new gene encoding long-chain acyl-CoA synthetase 4, is deleted in a family with Alport syndrome, elliptocytosis, and mental retardation. 9480748 1998
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.160 Biomarker group HPO