Nonsyndromic Deafness
|
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 |
Nonsyndromic Deafness
|
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 |
Nonsyndromic Deafness
|
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 |
Nonsyndromic Deafness
|
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 |
Nonsyndromic Deafness
|
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 |
Nonsyndromic Deafness
|
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 |
Nonsyndromic Deafness
|
0.340 |
Biomarker
|
disease |
CLINGEN |
Whole exome sequencing identifies a novel DFNA9 mutation, C162Y.
|
22931125 |
2013 |
Nonsyndromic Deafness
|
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 |
Nonsyndromic Deafness
|
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 |
Nonsyndromic Deafness
|
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 |
Nonsyndromic Deafness
|
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 |
Nonsyndromic Deafness
|
0.340 |
Biomarker
|
disease |
CLINGEN |
Novel mutations in the vWFA2 domain of COCH in two Chinese DFNA9 families.
|
18312449 |
2008 |
Nonsyndromic Deafness
|
0.340 |
Biomarker
|
disease |
CLINGEN |
Phenotype description of a novel DFNA9/COCH mutation, I109T.
|
17561763 |
2007 |
Nonsyndromic Deafness
|
0.340 |
Biomarker
|
disease |
CLINGEN |
Cochlin immunostaining of inner ear pathologic deposits and proteomic analysis in DFNA9 deafness and vestibular dysfunction.
|
16481359 |
2006 |
Nonsyndromic Deafness
|
0.340 |
Biomarker
|
disease |
CLINGEN |
Vestibular deterioration precedes hearing deterioration in the P51S COCH mutation (DFNA9): an analysis in 74 mutation carriers.
|
16151338 |
2005 |
Nonsyndromic Deafness
|
0.340 |
Biomarker
|
disease |
CLINGEN |
Mutations in a novel cochlear gene cause DFNA9, a human nonsyndromic deafness with vestibular dysfunction.
|
9806553 |
1998 |