Disease: Bile acid synthesis defect, congenital, 2 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1856127
Disease: Bile acid synthesis defect, congenital, 2
Bile acid synthesis defect, congenital, 2 		0.700 Biomarker disease CTD_human The aldo-keto reductases (AKRs): Overview. 25304492 2015
CUI: C1856127
Disease: Bile acid synthesis defect, congenital, 2
Bile acid synthesis defect, congenital, 2 		0.700 Biomarker disease GENOMICS_ENGLAND An atlas of genetic influences on human blood metabolites. 24816252 2014
CUI: C1856127
Disease: Bile acid synthesis defect, congenital, 2
Bile acid synthesis defect, congenital, 2 		0.700 Biomarker disease CTD_human The effect of disease associated point mutations on 5β-reductase (AKR1D1) enzyme function. 21185810 2011
CUI: C1856127
Disease: Bile acid synthesis defect, congenital, 2
Bile acid synthesis defect, congenital, 2 		0.700 GeneticVariation disease UNIPROT Characterization of disease-related 5beta-reductase (AKR1D1) mutations reveals their potential to cause bile acid deficiency. 20522910 2010
CUI: C1856127
Disease: Bile acid synthesis defect, congenital, 2
Bile acid synthesis defect, congenital, 2 		0.700 GeneticVariation disease UNIPROT SRD5B1 gene analysis needed for the accurate diagnosis of primary 3-oxo-Delta4-steroid 5beta-reductase deficiency. 19175828 2009
CUI: C1856127
Disease: Bile acid synthesis defect, congenital, 2
Bile acid synthesis defect, congenital, 2 		0.700 GeneticVariation disease UNIPROT SRD5B1 (AKR1D1) gene analysis in delta(4)-3-oxosteroid 5beta-reductase deficiency: evidence for primary genetic defect. 15030995 2004
CUI: C1856127
Disease: Bile acid synthesis defect, congenital, 2
Bile acid synthesis defect, congenital, 2 		0.700 GermlineCausalMutation disease ORPHANET Mutations in SRD5B1 (AKR1D1), the gene encoding delta(4)-3-oxosteroid 5beta-reductase, in hepatitis and liver failure in infancy. 12970144 2003
CUI: C1856127
Disease: Bile acid synthesis defect, congenital, 2
Bile acid synthesis defect, congenital, 2 		0.700 GeneticVariation disease UNIPROT Mutations in SRD5B1 (AKR1D1), the gene encoding delta(4)-3-oxosteroid 5beta-reductase, in hepatitis and liver failure in infancy. 12970144 2003
CUI: C1856127
Disease: Bile acid synthesis defect, congenital, 2
Bile acid synthesis defect, congenital, 2 		0.700 Biomarker disease GENOMICS_ENGLAND Mutations in SRD5B1 (AKR1D1), the gene encoding delta(4)-3-oxosteroid 5beta-reductase, in hepatitis and liver failure in infancy. 12970144 2003
CUI: C1856127
Disease: Bile acid synthesis defect, congenital, 2
Bile acid synthesis defect, congenital, 2 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C1856127
Disease: Bile acid synthesis defect, congenital, 2
Bile acid synthesis defect, congenital, 2 		0.700 CausalMutation disease CLINVAR
CUI: C1856127
Disease: Bile acid synthesis defect, congenital, 2
Bile acid synthesis defect, congenital, 2 		0.700 Biomarker disease GENOMICS_ENGLAND