Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
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0.800 | GeneticVariation | UNIPROT | Different functional consequences of two missense mutations in the GJB2 gene associated with non-syndromic hearing loss. | 19384972 | 2009 |
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0.800 | GeneticVariation | UNIPROT | A novel dominant missense mutation--D179N--in the GJB2 gene (Connexin 26) associated with non-syndromic hearing loss. | 12786758 | 2003 |
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|
0.800 | GeneticVariation | UNIPROT | Mutations in the gene for connexin 26 (GJB2) that cause hearing loss have a dominant negative effect on connexin 30. | 12668604 | 2003 |
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|
0.800 | GeneticVariation | UNIPROT | Sensorineural hearing loss and the incidence of Cx26 mutations in Austria. | 11313763 | 2001 |
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|
0.800 | GeneticVariation | UNIPROT | Pattern of connexin 26 (GJB2) mutations causing sensorineural hearing impairment in Ghana. | 11439000 | 2001 |
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|
A | 0.800 | CausalMutation | CLINVAR | De novo mutation of the connexin 26 gene associated with dominant non-syndromic sensorineural hearing loss. | 11354642 | 2001 |
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|
0.800 | GeneticVariation | UNIPROT | A novel C202F mutation in the connexin26 gene (GJB2) associated with autosomal dominant isolated hearing loss. | 10807696 | 2000 |
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|
A | 0.800 | CausalMutation | CLINVAR | Functional defects of Cx26 resulting from a heterozygous missense mutation in a family with dominant deaf-mutism and palmoplantar keratoderma. | 9856479 | 1998 |
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|
0.800 | GeneticVariation | UNIPROT | Connexin 26 gene linked to a dominant deafness. | 9620796 | 1998 |