FAR1, fatty acyl-CoA reductase 1, 84188

N. diseases: 22; N. variants: 3
Disease: PEROXISOMAL FATTY ACYL-CoA REDUCTASE 1 DISORDER ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4015344
Disease: PEROXISOMAL FATTY ACYL-CoA REDUCTASE 1 DISORDER
PEROXISOMAL FATTY ACYL-CoA REDUCTASE 1 DISORDER 		0.700 GermlineCausalMutation disease ORPHANET A peroxisomal disorder of severe intellectual disability, epilepsy, and cataracts due to fatty acyl-CoA reductase 1 deficiency. 25439727 2014
CUI: C4015344
Disease: PEROXISOMAL FATTY ACYL-CoA REDUCTASE 1 DISORDER
PEROXISOMAL FATTY ACYL-CoA REDUCTASE 1 DISORDER 		0.700 Biomarker disease GENOMICS_ENGLAND A peroxisomal disorder of severe intellectual disability, epilepsy, and cataracts due to fatty acyl-CoA reductase 1 deficiency. 25439727 2014
CUI: C4015344
Disease: PEROXISOMAL FATTY ACYL-CoA REDUCTASE 1 DISORDER
PEROXISOMAL FATTY ACYL-CoA REDUCTASE 1 DISORDER 		0.700 Biomarker disease GENOMICS_ENGLAND A peroxisomal disorder of severe intellectual disability, epilepsy, and cataracts due to fatty acyl-CoA reductase 1 deficiency. 25439727 2014
CUI: C4015344
Disease: PEROXISOMAL FATTY ACYL-CoA REDUCTASE 1 DISORDER
PEROXISOMAL FATTY ACYL-CoA REDUCTASE 1 DISORDER 		0.700 GeneticVariation disease UNIPROT A peroxisomal disorder of severe intellectual disability, epilepsy, and cataracts due to fatty acyl-CoA reductase 1 deficiency. 25439727 2014
CUI: C4015344
Disease: PEROXISOMAL FATTY ACYL-CoA REDUCTASE 1 DISORDER
PEROXISOMAL FATTY ACYL-CoA REDUCTASE 1 DISORDER 		0.700 CausalMutation disease CLINVAR