MYH9, myosin heavy chain 9, 4627

N. diseases: 196; N. variants: 38
Disease: DEAFNESS, AUTOSOMAL DOMINANT 17 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80338828
rs80338828
Entrez Id: 4627
Gene Symbol: MYH9
MYH9
CUI: C1863659
Disease:
DEAFNESS, AUTOSOMAL DOMINANT 17 		0.810 GeneticVariation UNIPROT Both the precise role of MYH9 in the cochlea and the mechanism by which the R705H mutation leads to the DFNA17 phenotype (progressive hearing impairment and cochleosaccular degeneration) remain to be elucidated. 11023810 2000
dbSNP: rs80338828
rs80338828
Entrez Id: 4627
Gene Symbol: MYH9
MYH9
CUI: C1863659
Disease:
DEAFNESS, AUTOSOMAL DOMINANT 17 		0.810 GeneticVariation BEFREE Both the precise role of MYH9 in the cochlea and the mechanism by which the R705H mutation leads to the DFNA17 phenotype (progressive hearing impairment and cochleosaccular degeneration) remain to be elucidated. 11023810 2000
dbSNP: rs80338828
rs80338828
Entrez Id: 4627
Gene Symbol: MYH9
MYH9
CUI: C1863659
Disease:
DEAFNESS, AUTOSOMAL DOMINANT 17 		T 0.810 CausalMutation CLINVAR