Gene: COCH ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1690
Gene Symbol: COCH
COCH 		0.340 GeneticVariation disease BEFREE Different Phenotypes of the Two Chinese Probands with the Same c.889G>A (p.C162Y) Mutation in COCH Gene Verify Different Mechanisms Underlying Autosomal Dominant Nonsyndromic Deafness 9. 28099493 2017
Entrez Id: 1690
Gene Symbol: COCH
COCH 		0.340 Biomarker disease CLINGEN Different Phenotypes of the Two Chinese Probands with the Same c.889G>A (p.C162Y) Mutation in COCH Gene Verify Different Mechanisms Underlying Autosomal Dominant Nonsyndromic Deafness 9. 28099493 2017
Entrez Id: 1690
Gene Symbol: COCH
COCH 		0.340 GeneticVariation disease BEFREE COCH (coagulation factor C homology) encodes cochlin, and certain mutations of COCH cause autosomal dominant nonsyndromic deafness 9 (DFNA9). 26631968 2016
Entrez Id: 1690
Gene Symbol: COCH
COCH 		0.340 Biomarker disease CLINGEN Massively Parallel Sequencing of a Chinese Family with DFNA9 Identified a Novel Missense Mutation in the LCCL Domain of COCH. 28116169 2016
Entrez Id: 1690
Gene Symbol: COCH
COCH 		0.340 Biomarker disease CLINGEN Novel COCH p.V123E Mutation, Causative of DFNA9 Sensorineural Hearing Loss and Vestibular Disorder, Shows Impaired Cochlin Post-Translational Cleavage and Secretion. 26256111 2015
Entrez Id: 1690
Gene Symbol: COCH
COCH 		0.340 GeneticVariation disease BEFREE Moreover, new variants in genes such as COCH, MYO7A and POU4F3 are associated with nonsyndromic deafness and vestibular dysfunction. 24275721 2014
Entrez Id: 1690
Gene Symbol: COCH
COCH 		0.340 Biomarker disease CLINGEN Whole exome sequencing identifies a novel DFNA9 mutation, C162Y. 22931125 2013
Entrez Id: 1690
Gene Symbol: COCH
COCH 		0.340 Biomarker disease CLINGEN A novel COCH mutation associated with autosomal dominant nonsyndromic hearing loss disrupts the structural stability of the vWFA2 domain. 22610276 2012
Entrez Id: 1690
Gene Symbol: COCH
COCH 		0.340 GeneticVariation disease BEFREE A novel COCH mutation associated with autosomal dominant nonsyndromic hearing loss disrupts the structural stability of the vWFA2 domain. 22610276 2012
Entrez Id: 1690
Gene Symbol: COCH
COCH 		0.340 Biomarker disease CLINGEN In American family 467, segregating autosomal dominant nonsyndromic hearing loss, a novel heterozygous missense mutation (c.362T>C; p.F121S) was identified in the COCH gene. 21046548 2010
Entrez Id: 1690
Gene Symbol: COCH
COCH 		0.340 Biomarker disease CLINGEN A targeted Coch missense mutation: a knock-in mouse model for DFNA9 late-onset hearing loss and vestibular dysfunction. 18697796 2008
Entrez Id: 1690
Gene Symbol: COCH
COCH 		0.340 Biomarker disease CLINGEN Novel mutations in the vWFA2 domain of COCH in two Chinese DFNA9 families. 18312449 2008
Entrez Id: 1690
Gene Symbol: COCH
COCH 		0.340 Biomarker disease CLINGEN Phenotype description of a novel DFNA9/COCH mutation, I109T. 17561763 2007
Entrez Id: 1690
Gene Symbol: COCH
COCH 		0.340 Biomarker disease CLINGEN Cochlin immunostaining of inner ear pathologic deposits and proteomic analysis in DFNA9 deafness and vestibular dysfunction. 16481359 2006
Entrez Id: 1690
Gene Symbol: COCH
COCH 		0.340 Biomarker disease CLINGEN Vestibular deterioration precedes hearing deterioration in the P51S COCH mutation (DFNA9): an analysis in 74 mutation carriers. 16151338 2005
Entrez Id: 1690
Gene Symbol: COCH
COCH 		0.340 Biomarker disease CLINGEN Mutations in a novel cochlear gene cause DFNA9, a human nonsyndromic deafness with vestibular dysfunction. 9806553 1998