MYO7A, myosin VIIA, 4647
N. diseases: 104; N. variants: 194
Source: ALL
| Variant | Gene | Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||
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0.800 | GeneticVariation | UNIPROT | Modifier controls severity of a novel dominant low-frequency MyosinVIIA (MYO7A) auditory mutation. | 15121790 | 2004 | |||||||
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0.800 | GeneticVariation | UNIPROT | Impaired calmodulin binding of myosin-7A causes autosomal dominant hearing loss (DFNA11). | 15300860 | 2004 | |||||||
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0.800 | GeneticVariation | UNIPROT | Identification and molecular modelling of a mutation in the motor head domain of myosin VIIA in a family with autosomal dominant hearing impairment (DFNA11). | 15221449 | 2004 | |||||||
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0.800 | GeneticVariation | UNIPROT | Autosomal dominant non-syndromic deafness caused by a mutation in the myosin VIIA gene. | 9354784 | 1997 | |||||||
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T | 0.800 | CausalMutation | CLINVAR | |||||||||
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T | 0.700 | CausalMutation | CLINVAR | |||||||||
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A | 0.700 | CausalMutation | CLINVAR | |||||||||
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T | 0.700 | CausalMutation | CLINVAR | |||||||||
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T | 0.700 | CausalMutation | CLINVAR | |||||||||
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A | 0.700 | GeneticVariation | CLINVAR | |||||||||
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A | 0.700 | CausalMutation | CLINVAR | |||||||||
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A | 0.700 | GeneticVariation | CLINVAR | |||||||||
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A | 0.700 | CausalMutation | CLINVAR | |||||||||
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C | 0.700 | GeneticVariation | CLINVAR | |||||||||
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T | 0.700 | CausalMutation | CLINVAR | |||||||||
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A | 0.700 | CausalMutation | CLINVAR | |||||||||
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T | 0.700 | CausalMutation | CLINVAR | |||||||||
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T | 0.700 | GeneticVariation | CLINVAR | |||||||||
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T | 0.700 | CausalMutation | CLINVAR | |||||||||
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T | 0.700 | CausalMutation | CLINVAR |