| Dataset | DISEASES Curated Gene-Disease Association Evidence Scores 2025 |
| Category | disease or phenotype associations |
| Type | disease |
| Description | A lipid storage disease that is characterized by the desposition of yellowish cholesterol-rich material in tendons or other body parts. (Human Disease Ontology, DOID_3345) |
| Similar Terms | |
| Downloads & Tools |
1 genes involed in the disease Xanthomatosis from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
| Symbol | Name | Standardized Value |
|---|---|---|
| CYP27A1 | cytochrome P450, family 27, subfamily A, polypeptide 1 | 5.0 |
