Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3501611
Disease: Mental Retardation, X-Linked Nonsyndromic
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
CUI: C0021368
Disease: Inflammation
Inflammation 		0.200 Biomarker phenotype RGD Up-regulation of fatty acid metabolizing-enzymes mRNA in rat spinal cord during persistent peripheral local inflammation. 14622223 2003
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
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.110 GeneticVariation disease BEFREE Disruption of DMD and deletion of ACSL4 causing developmental delay, hypotonia, and multiple congenital anomalies. 16276108 2006
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.110 Biomarker disease HPO
CUI: C0003467
Disease: Anxiety
Anxiety 		0.100 Biomarker disease HPO
CUI: C0013132
Disease: Drooling
Drooling 		0.100 Biomarker phenotype HPO
CUI: C0013274
Disease: Patent ductus arteriosus
Patent ductus arteriosus 		0.100 Biomarker disease HPO
CUI: C0013902
Disease: Elliptocytosis, Hereditary
Elliptocytosis, Hereditary 		0.100 Biomarker disease HPO
CUI: C0015469
Disease: Facial paralysis
Facial paralysis 		0.100 Biomarker disease HPO
CUI: C0016202
Disease: Flatfoot
Flatfoot 		0.100 Biomarker phenotype HPO
CUI: C0025037
Disease: Meckel Diverticulum
Meckel Diverticulum 		0.100 Biomarker disease HPO
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		0.100 Biomarker disease HPO
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 Biomarker phenotype HPO
CUI: C0027092
Disease: Myopia
Myopia 		0.100 Biomarker disease HPO
CUI: C0028754
Disease: Obesity
Obesity 		0.100 Biomarker disease HPO
CUI: C0033687
Disease: Proteinuria
Proteinuria 		0.100 Biomarker phenotype HPO
CUI: C0034194
Disease: Pyloric Stenosis
Pyloric Stenosis 		0.100 Biomarker phenotype HPO
CUI: C0034935
Disease: Babinski Reflex
Babinski Reflex 		0.100 Biomarker phenotype HPO