Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918342
rs121918342
Entrez Id: 6718
Gene Symbol: AKR1D1
AKR1D1
CUI: C1856127
Disease:
Bile acid synthesis defect, congenital, 2
0.800 GeneticVariation UNIPROT Characterization of disease-related 5beta-reductase (AKR1D1) mutations reveals their potential to cause bile acid deficiency. 20522910 2010
dbSNP: rs121918343
rs121918343
Entrez Id: 6718
Gene Symbol: AKR1D1
AKR1D1
CUI: C1856127
Disease:
Bile acid synthesis defect, congenital, 2
0.800 GeneticVariation UNIPROT Characterization of disease-related 5beta-reductase (AKR1D1) mutations reveals their potential to cause bile acid deficiency. 20522910 2010
dbSNP: rs267606649
rs267606649
Entrez Id: 6718
Gene Symbol: AKR1D1
AKR1D1
CUI: C1856127
Disease:
Bile acid synthesis defect, congenital, 2
0.800 GeneticVariation UNIPROT Characterization of disease-related 5beta-reductase (AKR1D1) mutations reveals their potential to cause bile acid deficiency. 20522910 2010
dbSNP: rs267606650
rs267606650
Entrez Id: 6718
Gene Symbol: AKR1D1
AKR1D1
CUI: C1856127
Disease:
Bile acid synthesis defect, congenital, 2
0.800 GeneticVariation UNIPROT Characterization of disease-related 5beta-reductase (AKR1D1) mutations reveals their potential to cause bile acid deficiency. 20522910 2010
dbSNP: rs121918342
rs121918342
Entrez Id: 6718
Gene Symbol: AKR1D1
AKR1D1
CUI: C1856127
Disease:
Bile acid synthesis defect, congenital, 2
0.800 GeneticVariation UNIPROT SRD5B1 gene analysis needed for the accurate diagnosis of primary 3-oxo-Delta4-steroid 5beta-reductase deficiency. 19175828 2009
dbSNP: rs121918343
rs121918343
Entrez Id: 6718
Gene Symbol: AKR1D1
AKR1D1
CUI: C1856127
Disease:
Bile acid synthesis defect, congenital, 2
0.800 GeneticVariation UNIPROT SRD5B1 gene analysis needed for the accurate diagnosis of primary 3-oxo-Delta4-steroid 5beta-reductase deficiency. 19175828 2009
dbSNP: rs267606649
rs267606649
Entrez Id: 6718
Gene Symbol: AKR1D1
AKR1D1
CUI: C1856127
Disease:
Bile acid synthesis defect, congenital, 2
0.800 GeneticVariation UNIPROT SRD5B1 gene analysis needed for the accurate diagnosis of primary 3-oxo-Delta4-steroid 5beta-reductase deficiency. 19175828 2009
dbSNP: rs267606650
rs267606650
Entrez Id: 6718
Gene Symbol: AKR1D1
AKR1D1
CUI: C1856127
Disease:
Bile acid synthesis defect, congenital, 2
0.800 GeneticVariation UNIPROT SRD5B1 gene analysis needed for the accurate diagnosis of primary 3-oxo-Delta4-steroid 5beta-reductase deficiency. 19175828 2009
dbSNP: rs121918342
rs121918342
Entrez Id: 6718
Gene Symbol: AKR1D1
AKR1D1
CUI: C1856127
Disease:
Bile acid synthesis defect, congenital, 2
0.800 GeneticVariation UNIPROT SRD5B1 (AKR1D1) gene analysis in delta(4)-3-oxosteroid 5beta-reductase deficiency: evidence for primary genetic defect. 15030995 2004
dbSNP: rs121918343
rs121918343
Entrez Id: 6718
Gene Symbol: AKR1D1
AKR1D1
CUI: C1856127
Disease:
Bile acid synthesis defect, congenital, 2
0.800 GeneticVariation UNIPROT SRD5B1 (AKR1D1) gene analysis in delta(4)-3-oxosteroid 5beta-reductase deficiency: evidence for primary genetic defect. 15030995 2004
dbSNP: rs267606649
rs267606649
Entrez Id: 6718
Gene Symbol: AKR1D1
AKR1D1
CUI: C1856127
Disease:
Bile acid synthesis defect, congenital, 2
0.800 GeneticVariation UNIPROT SRD5B1 (AKR1D1) gene analysis in delta(4)-3-oxosteroid 5beta-reductase deficiency: evidence for primary genetic defect. 15030995 2004
dbSNP: rs267606650
rs267606650
Entrez Id: 6718
Gene Symbol: AKR1D1
AKR1D1
CUI: C1856127
Disease:
Bile acid synthesis defect, congenital, 2
0.800 GeneticVariation UNIPROT SRD5B1 (AKR1D1) gene analysis in delta(4)-3-oxosteroid 5beta-reductase deficiency: evidence for primary genetic defect. 15030995 2004
dbSNP: rs121918342
rs121918342
Entrez Id: 6718
Gene Symbol: AKR1D1
AKR1D1
CUI: C1856127
Disease:
Bile acid synthesis defect, congenital, 2
0.800 GeneticVariation UNIPROT Mutations in SRD5B1 (AKR1D1), the gene encoding delta(4)-3-oxosteroid 5beta-reductase, in hepatitis and liver failure in infancy. 12970144 2003
dbSNP: rs121918343
rs121918343
Entrez Id: 6718
Gene Symbol: AKR1D1
AKR1D1
CUI: C1856127
Disease:
Bile acid synthesis defect, congenital, 2
0.800 GeneticVariation UNIPROT Mutations in SRD5B1 (AKR1D1), the gene encoding delta(4)-3-oxosteroid 5beta-reductase, in hepatitis and liver failure in infancy. 12970144 2003
dbSNP: rs267606649
rs267606649
Entrez Id: 6718
Gene Symbol: AKR1D1
AKR1D1
CUI: C1856127
Disease:
Bile acid synthesis defect, congenital, 2
0.800 GeneticVariation UNIPROT Mutations in SRD5B1 (AKR1D1), the gene encoding delta(4)-3-oxosteroid 5beta-reductase, in hepatitis and liver failure in infancy. 12970144 2003
dbSNP: rs267606650
rs267606650
Entrez Id: 6718
Gene Symbol: AKR1D1
AKR1D1
CUI: C1856127
Disease:
Bile acid synthesis defect, congenital, 2
0.800 GeneticVariation UNIPROT Mutations in SRD5B1 (AKR1D1), the gene encoding delta(4)-3-oxosteroid 5beta-reductase, in hepatitis and liver failure in infancy. 12970144 2003
dbSNP: rs121918342
rs121918342
Entrez Id: 6718
Gene Symbol: AKR1D1
AKR1D1
CUI: C1856127
Disease:
Bile acid synthesis defect, congenital, 2
T 0.800 CausalMutation CLINVAR
dbSNP: rs121918343
rs121918343
Entrez Id: 6718
Gene Symbol: AKR1D1
AKR1D1
CUI: C1856127
Disease:
Bile acid synthesis defect, congenital, 2
T 0.800 CausalMutation CLINVAR
dbSNP: rs267606649
rs267606649
Entrez Id: 6718
Gene Symbol: AKR1D1
AKR1D1
CUI: C1856127
Disease:
Bile acid synthesis defect, congenital, 2
G 0.800 CausalMutation CLINVAR
dbSNP: rs267606650
rs267606650
Entrez Id: 6718
Gene Symbol: AKR1D1
AKR1D1
CUI: C1856127
Disease:
Bile acid synthesis defect, congenital, 2
T 0.800 CausalMutation CLINVAR
dbSNP: rs1228918719
rs1228918719
Entrez Id: 6718
Gene Symbol: AKR1D1
AKR1D1
CUI: C1856127
Disease:
Bile acid synthesis defect, congenital, 2
0.700 GeneticVariation UNIPROT
dbSNP: rs1411452933
rs1411452933
Entrez Id: 6718
Gene Symbol: AKR1D1
AKR1D1
CUI: C0162309
Disease:
Adrenoleukodystrophy
0.010 GeneticVariation BEFREE We suggest that decreased synthesis of BAs may be an additional dysfunction as a consequence of the ABCD1 c.659T>C, p.(Leu220Pro) mutation and may be further evidence that disturbed cholesterol metabolism is important in the pathology of ALD. 30544401 2018