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: rs121965085
rs121965085
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
CUI: C1838701
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 2 		T 0.700 CausalMutation CLINVAR Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis. 21569298 2011
dbSNP: rs121965085
rs121965085
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
CUI: C1838701
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 2 		T 0.700 CausalMutation CLINVAR Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population. 15660226 2005
dbSNP: rs121965085
rs121965085
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
CUI: C1838701
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 2 		T 0.700 CausalMutation CLINVAR Twelve novel myosin VIIA mutations in 34 patients with Usher syndrome type I: confirmation of genetic heterogeneity. 10094549 1999