Disease-gene associations mined from literature

Human genes for Usher syndrome type 2A

Usher syndrome type 2A [DOID:0110838]

An Usher syndrome type 2 characterized by moderate to severe sensorineural hearing loss, mainly affecting perception of high frequency sounds and progressive retinitis pigmentosa that has_material_basis_in homozygous or compound heterozygous mutation in the USH2A gene on chromosome 1q41.

Synonyms:  Usher syndrome type 2A,  DOID:0110838,  Usher syndrome type IIA,  Usher syndrome type IIAs