rs121918342
×
Entrez Id:
6718
Gene Symbol:
AKR1D1
AKR1D1
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
rs121918343
×
Entrez Id:
6718
Gene Symbol:
AKR1D1
AKR1D1
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
rs267606649
×
Entrez Id:
6718
Gene Symbol:
AKR1D1
AKR1D1
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
rs267606650
×
Entrez Id:
6718
Gene Symbol:
AKR1D1
AKR1D1
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
rs121918342
×
Entrez Id:
6718
Gene Symbol:
AKR1D1
AKR1D1
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
rs121918343
×
Entrez Id:
6718
Gene Symbol:
AKR1D1
AKR1D1
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
rs267606649
×
Entrez Id:
6718
Gene Symbol:
AKR1D1
AKR1D1
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
rs267606650
×
Entrez Id:
6718
Gene Symbol:
AKR1D1
AKR1D1
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
rs121918342
×
Entrez Id:
6718
Gene Symbol:
AKR1D1
AKR1D1
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
rs121918343
×
Entrez Id:
6718
Gene Symbol:
AKR1D1
AKR1D1
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
rs267606649
×
Entrez Id:
6718
Gene Symbol:
AKR1D1
AKR1D1
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
rs267606650
×
Entrez Id:
6718
Gene Symbol:
AKR1D1
AKR1D1
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
rs121918342
×
Entrez Id:
6718
Gene Symbol:
AKR1D1
AKR1D1
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
rs121918343
×
Entrez Id:
6718
Gene Symbol:
AKR1D1
AKR1D1
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
rs267606649
×
Entrez Id:
6718
Gene Symbol:
AKR1D1
AKR1D1
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
rs267606650
×
Entrez Id:
6718
Gene Symbol:
AKR1D1
AKR1D1
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
rs121918342
×
Entrez Id:
6718
Gene Symbol:
AKR1D1
AKR1D1
Bile acid synthesis defect, congenital, 2
T
0.800
CausalMutation
CLINVAR
rs121918343
×
Entrez Id:
6718
Gene Symbol:
AKR1D1
AKR1D1
Bile acid synthesis defect, congenital, 2
T
0.800
CausalMutation
CLINVAR
rs267606649
×
Entrez Id:
6718
Gene Symbol:
AKR1D1
AKR1D1
Bile acid synthesis defect, congenital, 2
G
0.800
CausalMutation
CLINVAR
rs267606650
×
Entrez Id:
6718
Gene Symbol:
AKR1D1
AKR1D1
Bile acid synthesis defect, congenital, 2
T
0.800
CausalMutation
CLINVAR
rs1228918719
×
Entrez Id:
6718
Gene Symbol:
AKR1D1
AKR1D1
Bile acid synthesis defect, congenital, 2
0.700
GeneticVariation
UNIPROT
rs1411452933
×
Entrez Id:
6718
Gene Symbol:
AKR1D1
AKR1D1
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