Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
0.120 GeneticVariation disease BEFREE Usher Syndrome 2 (USH2): Moderate to severe congenital sensorineural hearing loss on audiometry (predominantly for higher frequencies), normal vestibular function, and typical RP (onset by 20 years of age); accounts for about 26% of all Usher cases. 30578505 2019
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
0.120 GeneticVariation disease BEFREE USH2A mutations are an important cause of retinitis pigmentosa (RP) with or without congenital sensorineural hearing impairment. 26927203 2016
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
0.120 GeneticVariation disease CLINVAR
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
0.120 CausalMutation disease CLINVAR
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
0.120 Biomarker disease HPO