AMACR, alpha-methylacyl-CoA racemase, 23600

N. diseases: 179; N. variants: 9
Disease: Bile acid synthesis defect, congenital, 4 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121917814
rs121917814
Entrez Id: 23600;100534612
Gene Symbol: AMACR;C1QTNF3-AMACR
AMACR;C1QTNF3-AMACR
CUI: C1858328
Disease:
Bile acid synthesis defect, congenital, 4 		0.800 GeneticVariation UNIPROT Liver disease caused by failure to racemize trihydroxycholestanoic acid: gene mutation and effect of bile acid therapy. 12512044 2003
dbSNP: rs121917814
rs121917814
Entrez Id: 23600;100534612
Gene Symbol: AMACR;C1QTNF3-AMACR
AMACR;C1QTNF3-AMACR
CUI: C1858328
Disease:
Bile acid synthesis defect, congenital, 4 		0.800 GeneticVariation UNIPROT Mutations in the gene encoding peroxisomal alpha-methylacyl-CoA racemase cause adult-onset sensory motor neuropathy. 10655068 2000
dbSNP: rs121917814
rs121917814
Entrez Id: 23600;100534612
Gene Symbol: AMACR;C1QTNF3-AMACR
AMACR;C1QTNF3-AMACR
CUI: C1858328
Disease:
Bile acid synthesis defect, congenital, 4 		G 0.800 CausalMutation CLINVAR