STRC, stereocilin, 161497

N. diseases: 25; N. variants: 12
Disease: Deafness, Autosomal Recessive 16 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1863561
Disease: Deafness, Autosomal Recessive 16
Deafness, Autosomal Recessive 16 		0.830 GeneticVariation disease BEFREE Stereocilin gene variants associated with episodic vertigo: expansion of the DFNB16 phenotype. 30250054 2018
CUI: C1863561
Disease: Deafness, Autosomal Recessive 16
Deafness, Autosomal Recessive 16 		0.830 GeneticVariation disease CLINVAR Identification of a nonsense mutation in the STRC gene in a Korean family with moderate hearing loss. 26746617 2016
CUI: C1863561
Disease: Deafness, Autosomal Recessive 16
Deafness, Autosomal Recessive 16 		0.830 GeneticVariation disease CLINVAR DFNB16 is a frequent cause of congenital hearing impairment: implementation of STRC mutation analysis in routine diagnostics. 26011646 2015
CUI: C1863561
Disease: Deafness, Autosomal Recessive 16
Deafness, Autosomal Recessive 16 		0.830 Biomarker disease GENOMICS_ENGLAND DFNB16 is a frequent cause of congenital hearing impairment: implementation of STRC mutation analysis in routine diagnostics. 26011646 2015
CUI: C1863561
Disease: Deafness, Autosomal Recessive 16
Deafness, Autosomal Recessive 16 		0.830 CausalMutation disease CLINVAR Comprehensive diagnostic testing for stereocilin: an approach for analyzing medically important genes with high homology. 25157971 2014
CUI: C1863561
Disease: Deafness, Autosomal Recessive 16
Deafness, Autosomal Recessive 16 		0.830 CausalMutation disease CLINVAR Comprehensive genetic testing for hereditary hearing loss using massively parallel sequencing. 21078986 2010
CUI: C1863561
Disease: Deafness, Autosomal Recessive 16
Deafness, Autosomal Recessive 16 		0.830 GeneticVariation disease BEFREE The deletion is about 90 kilobases and contains four genes including the STRC gene, which is involved in autosomal recessive deafness (DFNB16). 19246478 2009
CUI: C1863561
Disease: Deafness, Autosomal Recessive 16
Deafness, Autosomal Recessive 16 		0.830 Biomarker disease MGD Stereocilin-deficient mice reveal the origin of cochlear waveform distortions. 18849963 2008
CUI: C1863561
Disease: Deafness, Autosomal Recessive 16
Deafness, Autosomal Recessive 16 		0.830 Biomarker disease BEFREE Exceptions to this include DFNB2 (MYO7A), DFNB8/10 (TMPRSS3) and DFNB16 (STRC) where age of onset may sometimes be later on in childhood, DFNB4 (SLC26A4) where there may be dilated vestibular aqueducts and endolymphatic sacs, and DFNB9 (OTOF) where there may also be an associated auditory neuropathy. 12324385 2002
CUI: C1863561
Disease: Deafness, Autosomal Recessive 16
Deafness, Autosomal Recessive 16 		0.830 GeneticVariation disease CLINVAR Mutations in a new gene encoding a protein of the hair bundle cause non-syndromic deafness at the DFNB16 locus. 11687802 2001
CUI: C1863561
Disease: Deafness, Autosomal Recessive 16
Deafness, Autosomal Recessive 16 		0.830 Biomarker disease CTD_human