| BILE ACID SYNTHESIS DEFECT, CONGENITAL, 6 |
C4310624 |
ACOX2
|
Causal
Pathogenic evidence from ClinVar
|
27647924, 27884763 |
ClinVar |
| Congenital bile acid synthesis defect type 2 |
79303 |
AKR1D1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| Congenital bile acid synthesis defect type 4 |
79095 |
AMACR
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| Bile Acid Synthesis Defect, Congenital, 3 |
C3151147 |
CYP7B1
|
Causal
Pathogenic evidence from ClinVar
|
9802883, 31337596 |
ClinVar |
|
CYP7A1
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
9802883 |
- |
| Congenital bile acid synthesis defect type 3 |
79302 |
CYP7B1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| Congenital bile acid synthesis defect type 1 |
79301 |
HSD3B7
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5 |
C4225390 |
ABCD3
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
25168382 |
- |
