MYO7A, myosin VIIA, 4647

N. diseases: 104; N. variants: 194
Disease: USHER SYNDROME, TYPE IB (disorder) ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555067667
rs1555067667
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
CUI: C1848638
Disease:
USHER SYNDROME, TYPE IB (disorder) 		0.010 GeneticVariation BEFREE Ala397Asp mutation of myosin VIIA gene segregating in a Spanish family with type-Ib Usher syndrome. 9703432 1998