COCH, cochlin, 1690

N. diseases: 45; N. variants: 14
Disease: Deafness, Autosomal Dominant 9 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908930
rs121908930
Entrez Id: 1690;100506071
Gene Symbol: COCH;LOC100506071
COCH;LOC100506071
CUI: C1832425
Disease:
Deafness, Autosomal Dominant 9 		0.810 GeneticVariation UNIPROT Targeted genomic capture and massively parallel sequencing to identify novel variants causing Chinese hereditary hearing loss. 25388789 2014
dbSNP: rs121908930
rs121908930
Entrez Id: 1690;100506071
Gene Symbol: COCH;LOC100506071
COCH;LOC100506071
CUI: C1832425
Disease:
Deafness, Autosomal Dominant 9 		0.810 GeneticVariation UNIPROT Whole exome sequencing identifies a novel DFNA9 mutation, C162Y. 22931125 2013
dbSNP: rs121908930
rs121908930
Entrez Id: 1690;100506071
Gene Symbol: COCH;LOC100506071
COCH;LOC100506071
CUI: C1832425
Disease:
Deafness, Autosomal Dominant 9 		0.810 GeneticVariation UNIPROT Clinical characterization of a novel COCH mutation G87V in a Chinese DFNA9 family. 23993205 2013
dbSNP: rs121908930
rs121908930
Entrez Id: 1690;100506071
Gene Symbol: COCH;LOC100506071
COCH;LOC100506071
CUI: C1832425
Disease:
Deafness, Autosomal Dominant 9 		0.810 GeneticVariation UNIPROT A novel COCH mutation associated with autosomal dominant nonsyndromic hearing loss disrupts the structural stability of the vWFA2 domain. 22610276 2012
dbSNP: rs121908930
rs121908930
Entrez Id: 1690;100506071
Gene Symbol: COCH;LOC100506071
COCH;LOC100506071
CUI: C1832425
Disease:
Deafness, Autosomal Dominant 9 		0.810 GeneticVariation BEFREE Retrospective analyses of audiometric data from 8 mutation carriers of an Australian DFNA9 family with the I109N COCH mutation were performed. 21774451 2011
dbSNP: rs121908930
rs121908930
Entrez Id: 1690;100506071
Gene Symbol: COCH;LOC100506071
COCH;LOC100506071
CUI: C1832425
Disease:
Deafness, Autosomal Dominant 9 		0.810 GeneticVariation UNIPROT Novel mutations in the vWFA2 domain of COCH in two Chinese DFNA9 families. 18312449 2008
dbSNP: rs121908930
rs121908930
Entrez Id: 1690;100506071
Gene Symbol: COCH;LOC100506071
COCH;LOC100506071
CUI: C1832425
Disease:
Deafness, Autosomal Dominant 9 		0.810 GeneticVariation UNIPROT Phenotype description of a novel DFNA9/COCH mutation, I109T. 17561763 2007
dbSNP: rs121908930
rs121908930
Entrez Id: 1690;100506071
Gene Symbol: COCH;LOC100506071
COCH;LOC100506071
CUI: C1832425
Disease:
Deafness, Autosomal Dominant 9 		0.810 GeneticVariation UNIPROT Identification of a novel COCH mutation, G87W, causing autosomal dominant hearing impairment (DFNA9). 16835921 2006
dbSNP: rs121908930
rs121908930
Entrez Id: 1690;100506071
Gene Symbol: COCH;LOC100506071
COCH;LOC100506071
CUI: C1832425
Disease:
Deafness, Autosomal Dominant 9 		0.810 GeneticVariation UNIPROT Mutations in COCH that result in non-syndromic autosomal dominant deafness (DFNA9) affect matrix deposition of cochlin. 12928864 2003
dbSNP: rs121908930
rs121908930
Entrez Id: 1690;100506071
Gene Symbol: COCH;LOC100506071
COCH;LOC100506071
CUI: C1832425
Disease:
Deafness, Autosomal Dominant 9 		0.810 GeneticVariation UNIPROT Mutations in the COCH gene are a frequent cause of autosomal dominant progressive cochleo-vestibular dysfunction, but not of Meniere's disease. 14512963 2003
dbSNP: rs121908930
rs121908930
Entrez Id: 1690;100506071
Gene Symbol: COCH;LOC100506071
COCH;LOC100506071
CUI: C1832425
Disease:
Deafness, Autosomal Dominant 9 		0.810 GeneticVariation UNIPROT Identification of a novel COCH mutation, I109N, highlights the similar clinical features observed in DFNA9 families. 11295836 2001
dbSNP: rs121908930
rs121908930
Entrez Id: 1690;100506071
Gene Symbol: COCH;LOC100506071
COCH;LOC100506071
CUI: C1832425
Disease:
Deafness, Autosomal Dominant 9 		0.810 GeneticVariation UNIPROT High prevalence of symptoms of Menière's disease in three families with a mutation in the COCH gene. 10400989 1999
dbSNP: rs121908930
rs121908930
Entrez Id: 1690;100506071
Gene Symbol: COCH;LOC100506071
COCH;LOC100506071
CUI: C1832425
Disease:
Deafness, Autosomal Dominant 9 		0.810 GeneticVariation UNIPROT A Pro51Ser mutation in the COCH gene is associated with late onset autosomal dominant progressive sensorineural hearing loss with vestibular defects. 9931344 1999
dbSNP: rs121908930
rs121908930
Entrez Id: 1690;100506071
Gene Symbol: COCH;LOC100506071
COCH;LOC100506071
CUI: C1832425
Disease:
Deafness, Autosomal Dominant 9 		0.810 GeneticVariation UNIPROT Mutations in a novel cochlear gene cause DFNA9, a human nonsyndromic deafness with vestibular dysfunction. 9806553 1998
dbSNP: rs121908930
rs121908930
Entrez Id: 1690;100506071
Gene Symbol: COCH;LOC100506071
COCH;LOC100506071
CUI: C1832425
Disease:
Deafness, Autosomal Dominant 9 		A 0.810 CausalMutation CLINVAR