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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



PTMD IDUniProt AccessionEntrez IDGene NameProtein NameOrganism
PTMD14987Q9Y5X410002
NR2E3
Photoreceptor-specific nuclear receptor
Homo sapiens