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Browse result for enhanced S-cone syndrome
※ introduction A retinal disease that is characterized by early onset night blindness, hypersensitivity to blue light, and in some cases a more general retinal degeneration that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the nuclear receptor subfamily 2 group E member 3 gene (NR2E3) on chromosome 15q23.
Reference
DiseaseOntology: enhanced S-cone syndrome
Reference
DiseaseOntology: enhanced S-cone syndrome
| PTMD ID | UniProt Accession | Entrez ID | Gene Name | Protein Name | Organism |
|---|---|---|---|---|---|
| PTMD14987 | Q9Y5X4 | 10002 | NR2E3 | Photoreceptor-specific nuclear receptor | Homo sapiens |
