MYO7A, myosin VIIA, 4647

N. diseases: 104; N. variants: 194
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 2 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs111033415
rs111033415
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
CUI: C1838701
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 2 		G 0.700 CausalMutation CLINVAR An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients. 27460420 2016
dbSNP: rs111033415
rs111033415
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
CUI: C1838701
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 2 		G 0.700 CausalMutation CLINVAR Characterising the spectrum of autosomal recessive hereditary hearing loss in Iran. 26445815 2015
dbSNP: rs111033415
rs111033415
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
CUI: C1838701
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 2 		G 0.700 CausalMutation CLINVAR Novel mutations in MYO7A and USH2A in Usher syndrome. 15823922 2005