| Dataset | CTD Gene-Disease Associations |
| Category | disease or phenotype associations |
| Type | disease |
| Description | An autosomal recessive disease that is characterized by multiorgan dysfunction. The key features are childhood obesity, blindness due to congenital retinal dystrophy, and sensorineural hearing loss with autosomal recessive inheritance and has_material_basis_in mutations in the ALMS1 gene. (Human Disease Ontology, DOID_0050473) |
| External Link | http://ctdbase.org/detail.go?type=disease&acc=MESH:D056769 |
| Similar Terms | |
| Downloads & Tools |
1 genes/proteins associated with the disease Alstrom Syndrome from the curated CTD Gene-Disease Associations dataset.
| Symbol | Name | Standardized Value |
|---|---|---|
| ALMS1 | Alstrom syndrome protein 1 | 2.88009 |