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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H01935 | Familial hypercholanemia | Familial hypercholanemia is characterized by elevated serum bile acid concentrations, itching, and fat malabsorption. Mutations in EPHX1, TJP2, and BAAT may disrupt bile acid transport and circulation. | Inherited metabolic disorder |
(FHCA1) TJP2 [HSA:9414] [KO:K06098] (FHCA1) BAAT [HSA:570] [KO:K00659] (FHCA2) SLC10A1 [HSA:6554] [KO:K14341] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |