DisGeNET - a database of gene-disease associations

Bile acid synthesis defect, congenital, 4, C1858328

Variant: rs121917814 ×

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs121917814

AMACR ; C1QTNF3-AMACR

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

AMACR ; C1QTNF3-AMACR

0.800

GeneticVariation

UNIPROT

Mutations in the gene encoding peroxisomal alpha-methylacyl-CoA racemase cause adult-onset sensory motor neuropathy.

10655068

2000

dbSNP:

rs121917814

AMACR ; C1QTNF3-AMACR

0.800

CausalMutation

CLINVAR