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: rs782166819
rs782166819
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
CUI: C1838701
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 2 		T 0.700 GeneticVariation CLINVAR Phenotype of Usher syndrome type II assosiated with compound missense mutations of c.721 C>T and c.1969 C>T in MYO7A in a Chinese Usher syndrome family. 26309859 2015
dbSNP: rs782166819
rs782166819
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
CUI: C1838701
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 2 		T 0.700 GeneticVariation CLINVAR Comprehensive molecular diagnosis of 67 Chinese Usher syndrome probands: high rate of ethnicity specific mutations in Chinese USH patients. 26338283 2015
dbSNP: rs782166819
rs782166819
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
CUI: C1838701
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 2 		T 0.700 GeneticVariation CLINVAR Genetic analysis through OtoSeq of Pakistani families segregating prelingual hearing loss. 23770805 2013
dbSNP: rs782166819
rs782166819
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
CUI: C1838701
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 2 		T 0.700 GeneticVariation CLINVAR Evaluation of the myosin VIIA gene and visual function in patients with Usher syndrome type I. 10930322 2000