STRC, stereocilin, 161497

N. diseases: 25; N. variants: 12
Disease: Nonsyndromic Deafness ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.320 GeneticVariation disease BEFREE Clinical Exome Sequencing Identifies a Frameshift Mutation Within the STRC Gene in a United Arab Emirates Family with Profound Nonsyndromic Hearing Loss. 30758234 2019
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.320 Biomarker disease CLINGEN Identification of a nonsense mutation in the STRC gene in a Korean family with moderate hearing loss. 26746617 2016
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.320 Biomarker disease CLINGEN DFNB16 is a frequent cause of congenital hearing impairment: implementation of STRC mutation analysis in routine diagnostics. 26011646 2015
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.320 GeneticVariation disease BEFREE By using this combination of assays we could identify biallelic STRC variants in 14% (95% CI, 8%-24%) of individuals with isolated nonsyndromic hearing loss who had previously tested negative on our 70-gene hearing loss panel, corresponding to a detection rate of 11.2% (95% CI, 6%-19%) for previously untested patients. 25157971 2014
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.320 Biomarker disease CLINGEN Stereocilin-deficient mice reveal the origin of cochlear waveform distortions. 18849963 2008
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.320 Biomarker disease CLINGEN Mutations in a new gene encoding a protein of the hair bundle cause non-syndromic deafness at the DFNB16 locus. 11687802 2001