STRC, stereocilin, 161497

N. diseases: 25; N. variants: 12
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
CUI: C1970187
Disease: Deafness, Sensorineural, And Male Infertility
Deafness, Sensorineural, And Male Infertility 		0.600 ChromosomalRearrangement disease ORPHANET Sensorineural deafness and male infertility: a contiguous gene deletion syndrome. 17098888 2007
CUI: C1970187
Disease: Deafness, Sensorineural, And Male Infertility
Deafness, Sensorineural, And Male Infertility 		0.600 Biomarker disease CTD_human
CUI: C1970187
Disease: Deafness, Sensorineural, And Male Infertility
Deafness, Sensorineural, And Male Infertility 		0.600 GeneticVariation disease CLINVAR
CUI: C2751811
Disease: Spermatogenic Failure 7
Spermatogenic Failure 7 		0.400 Biomarker disease CTD_human
CUI: C2751811
Disease: Spermatogenic Failure 7
Spermatogenic Failure 7 		0.400 GeneticVariation disease CLINVAR
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
CUI: C0452138
Disease: Sensorineural hearing loss, bilateral
Sensorineural hearing loss, bilateral 		0.310 GeneticVariation disease BEFREE Genome-wide SNP genotyping identifies the Stereocilin (STRC) gene as a major contributor to pediatric bilateral sensorineural hearing impairment. 22147502 2012
CUI: C0452138
Disease: Sensorineural hearing loss, bilateral
Sensorineural hearing loss, bilateral 		0.310 Biomarker disease MGD Stereocilin-deficient mice reveal the origin of cochlear waveform distortions. 18849963 2008
CUI: C0452138
Disease: Sensorineural hearing loss, bilateral
Sensorineural hearing loss, bilateral 		0.310 Biomarker disease HPO