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: rs755934966
rs755934966
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
CUI: C1838701
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 2 		A 0.700 GeneticVariation CLINVAR An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients. 27460420 2016
dbSNP: rs755934966
rs755934966
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
CUI: C1838701
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 2 		A 0.700 GeneticVariation CLINVAR Targeted Next-Generation Sequencing Successfully Detects Causative Genes in Chinese Patients with Hereditary Hearing Loss. 27610647 2016
dbSNP: rs755934966
rs755934966
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
CUI: C1838701
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 2 		A 0.700 GeneticVariation CLINVAR Compound heterozygous MYO7A mutations segregating Usher syndrome type 2 in a Han family. 27729122 2016
dbSNP: rs755934966
rs755934966
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
CUI: C1838701
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 2 		A 0.700 GeneticVariation CLINVAR Massively parallel DNA sequencing facilitates diagnosis of patients with Usher syndrome type 1. 24618850 2014
dbSNP: rs755934966
rs755934966
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
CUI: C1838701
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 2 		A 0.700 GeneticVariation CLINVAR Disease boundaries in the retina of patients with Usher syndrome caused by MYO7A gene mutations. 19074810 2009
dbSNP: rs755934966
rs755934966
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
CUI: C1838701
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 2 		A 0.700 CausalMutation CLINVAR