ACOX2, acyl-CoA oxidase 2, 8309

N. diseases: 17; N. variants: 2
Disease: BILE ACID SYNTHESIS DEFECT, CONGENITAL, 6 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4310624
Disease: BILE ACID SYNTHESIS DEFECT, CONGENITAL, 6
BILE ACID SYNTHESIS DEFECT, CONGENITAL, 6 		0.600 GeneticVariation disease UNIPROT ACOX2 deficiency: An inborn error of bile acid synthesis identified in an adolescent with persistent hypertransaminasemia. 27884763 2017
CUI: C4310624
Disease: BILE ACID SYNTHESIS DEFECT, CONGENITAL, 6
BILE ACID SYNTHESIS DEFECT, CONGENITAL, 6 		0.600 GeneticVariation disease UNIPROT ACOX2 deficiency: A disorder of bile acid synthesis with transaminase elevation, liver fibrosis, ataxia, and cognitive impairment. 27647924 2016
CUI: C4310624
Disease: BILE ACID SYNTHESIS DEFECT, CONGENITAL, 6
BILE ACID SYNTHESIS DEFECT, CONGENITAL, 6 		0.600 Biomarker disease CTD_human
CUI: C4310624
Disease: BILE ACID SYNTHESIS DEFECT, CONGENITAL, 6
BILE ACID SYNTHESIS DEFECT, CONGENITAL, 6 		0.600 CausalMutation disease CLINVAR