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: rs1057517774
rs1057517774
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
CUI: C1838701
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 2 		G 0.700 GeneticVariation CLINVAR Four-year follow-up of diagnostic service in USH1 patients. 21436283 2011
dbSNP: rs1057517774
rs1057517774
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
CUI: C1838701
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 2 		G 0.700 GeneticVariation CLINVAR Ex vivo splicing assays of mutations at noncanonical positions of splice sites in USHER genes. 20052763 2010
dbSNP: rs1057517774
rs1057517774
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
CUI: C1838701
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 2 		G 0.700 GeneticVariation CLINVAR Survey of the frequency of USH1 gene mutations in a cohort of Usher patients shows the importance of cadherin 23 and protocadherin 15 genes and establishes a detection rate of above 90%. 16679490 2006
dbSNP: rs1057517774
rs1057517774
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
CUI: C1838701
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 2 		G 0.700 GeneticVariation CLINVAR Myosin VIIA mutation screening in 189 Usher syndrome type 1 patients. 8900236 1996