| Dataset | DISEASES Curated Gene-Disease Association Evidence Scores |
| Category | disease or phenotype associations |
| Type | disease |
| Description | An autosomal dominant disease characterized by multiple noncancerous, tumor-like growths (hamartomas) and an increased risk of certain forms of cancer, especially breast, thyroid and endometrium. It is caused by mutations in the PTEN, SDHB, SDHD and KLLN genes. (Human Disease Ontology, DOID_6457) |
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3 genes involed in the disease cowden disease from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.