Disease-gene associations mined from literature

Human genes for enhanced S-cone syndrome

Enhanced S-cone syndrome [DOID:0090059]

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.

Synonyms:  enhanced S-cone syndrome,  DOID:0090059,  enhanced Scone syndrome,  enhanced S-cone disease,  enhanced S-cone disorder ...