MYO7A, myosin VIIA, 4647

N. diseases: 104; N. variants: 194
Disease: Deafness, Autosomal Dominant 11 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121965084
rs121965084
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
CUI: C1832475
Disease:
Deafness, Autosomal Dominant 11 		0.800 GeneticVariation UNIPROT Modifier controls severity of a novel dominant low-frequency MyosinVIIA (MYO7A) auditory mutation. 15121790 2004
dbSNP: rs121965084
rs121965084
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
CUI: C1832475
Disease:
Deafness, Autosomal Dominant 11 		0.800 GeneticVariation UNIPROT Impaired calmodulin binding of myosin-7A causes autosomal dominant hearing loss (DFNA11). 15300860 2004
dbSNP: rs121965084
rs121965084
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
CUI: C1832475
Disease:
Deafness, Autosomal Dominant 11 		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
dbSNP: rs121965084
rs121965084
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
CUI: C1832475
Disease:
Deafness, Autosomal Dominant 11 		0.800 GeneticVariation UNIPROT Autosomal dominant non-syndromic deafness caused by a mutation in the myosin VIIA gene. 9354784 1997
dbSNP: rs121965084
rs121965084
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
CUI: C1832475
Disease:
Deafness, Autosomal Dominant 11 		T 0.800 CausalMutation CLINVAR