Congenital bile acid synthesis defect
Pathways column key:
KEGG
Reactome
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source | Pathways |
|---|---|---|---|---|---|---|
| CONGENITAL BILE ACID SYNTHESIS DEFECT 1 | HSD3B7 | Causal | ClinGen, ClinVar, GenCC | |||
| CONGENITAL BILE ACID SYNTHESIS DEFECT 2 | AKR1D1 | Causal | ClinGen, ClinVar, GWAS catalog | |||
| CONGENITAL BILE ACID SYNTHESIS DEFECT 3 | CYP7B1 | Causal | ClinVar, Disgenet | |||
| CONGENITAL BILE ACID SYNTHESIS DEFECT 4 | AMACR | Causal | ClinVar, GWAS catalog | |||
| CONGENITAL BILE ACID SYNTHESIS DEFECT 6 | ACOX2 | Causal | CTD, ClinGen, ClinVar |