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: rs1555090171
rs1555090171
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
CUI: C1838701
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 2 		C 0.700 CausalMutation CLINVAR Genetic analysis through OtoSeq of Pakistani families segregating prelingual hearing loss. 23770805 2013
dbSNP: rs1555090171
rs1555090171
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
CUI: C1838701
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 2 		C 0.700 CausalMutation CLINVAR Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study. 22135276 2012
dbSNP: rs1555090171
rs1555090171
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
CUI: C1838701
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 2 		C 0.700 CausalMutation CLINVAR Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population. 15660226 2005