COCH, cochlin, 1690
N. diseases: 45; N. variants: 14
Source: ALL
Variant | Gene | Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||
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0.810 | GeneticVariation | BEFREE | The study of clinical features of a DFNA9 family carrying a G88E COCH mutation and to compare this to the symptoms of those carrying a P51S/COCH mutation. | 16151339 | 2005 | |||||||
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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 | |||||||
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0.710 | GeneticVariation | BEFREE | The study of clinical features of a DFNA9 family carrying a G88E COCH mutation and to compare this to the symptoms of those carrying a P51S/COCH mutation. | 16151339 | 2005 | |||||||
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A | 0.810 | CausalMutation | CLINVAR | |||||||||
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A | 0.810 | CausalMutation | CLINVAR | |||||||||
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G | 0.800 | CausalMutation | CLINVAR | |||||||||
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C | 0.800 | CausalMutation | CLINVAR | |||||||||
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A | 0.800 | CausalMutation | CLINVAR | |||||||||
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T | 0.800 | CausalMutation | CLINVAR | |||||||||
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T | 0.800 | GeneticVariation | CLINVAR | A novel DFNA9 mutation in the vWFA2 domain of COCH alters a conserved cysteine residue and intrachain disulfide bond formation resulting in progressive hearing loss and site-specific vestibular and central oculomotor dysfunction. | 16261627 | 2005 | ||||||
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C | 0.800 | CausalMutation | CLINVAR | |||||||||
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T | 0.710 | CausalMutation | CLINVAR | |||||||||
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T | 0.700 | GeneticVariation | CLINVAR | |||||||||
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T | 0.700 | CausalMutation | CLINVAR | |||||||||
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0.810 | GeneticVariation | UNIPROT | Targeted genomic capture and massively parallel sequencing to identify novel variants causing Chinese hereditary hearing loss. | 25388789 | 2014 | |||||||
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0.810 | GeneticVariation | UNIPROT | Identification of a novel COCH mutation, I109N, highlights the similar clinical features observed in DFNA9 families. | 11295836 | 2001 | |||||||
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0.810 | GeneticVariation | UNIPROT | Clinical characterization of a novel COCH mutation G87V in a Chinese DFNA9 family. | 23993205 | 2013 | |||||||
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0.810 | GeneticVariation | UNIPROT | High prevalence of symptoms of Menière's disease in three families with a mutation in the COCH gene. | 10400989 | 1999 | |||||||
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0.810 | GeneticVariation | UNIPROT | Mutations in a novel cochlear gene cause DFNA9, a human nonsyndromic deafness with vestibular dysfunction. | 9806553 | 1998 | |||||||
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0.810 | GeneticVariation | UNIPROT | Identification of a novel COCH mutation, G87W, causing autosomal dominant hearing impairment (DFNA9). | 16835921 | 2006 | |||||||
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0.810 | GeneticVariation | UNIPROT | Whole exome sequencing identifies a novel DFNA9 mutation, C162Y. | 22931125 | 2013 | |||||||
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0.810 | GeneticVariation | UNIPROT | Novel mutations in the vWFA2 domain of COCH in two Chinese DFNA9 families. | 18312449 | 2008 | |||||||
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0.810 | GeneticVariation | UNIPROT | Mutations in COCH that result in non-syndromic autosomal dominant deafness (DFNA9) affect matrix deposition of cochlin. | 12928864 | 2003 | |||||||
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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 | |||||||
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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 |