STRC, stereocilin, 161497

N. diseases: 25; N. variants: 12
Disease: hearing impairment ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.150 GeneticVariation phenotype BEFREE The prevalence of STRC homozygous deletions was 1.7% in the hearing loss population overall, and 4.3% among mild-to-moderate hearing loss patients. 30867468 2019
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.150 GeneticVariation phenotype BEFREE The defective hair bundle cohesiveness and the absence of stereociliary imprints in the TM observed in these mice have also been observed in mutant mice lacking stereocilin, a model of the DFNB16 genetic form of deafness, also characterized by congenital mild-to-moderate hearing impairment. 31776257 2019
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.150 Biomarker phenotype BEFREE STRC Deletion is a Frequent Cause of Slight to Moderate Congenital Hearing Impairment in the Czech Republic. 28984810 2017
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.150 Biomarker phenotype BEFREE Besides GJB2/GJB6 (DFNB1), STRC is a major contributor to congenital hearing impairment. 26011646 2015
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.150 Biomarker phenotype BEFREE The data suggest that STRC may be a common contributor to NBSNHI among GJB2 mutation negative probands, especially in those with mild to moderate hearing impairment. 22147502 2012
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.150 GeneticVariation phenotype CLINVAR