×
Entrez Id:
4627
Gene Symbol:
MYH9
MYH9
0.710
CausalMutation
disease
CLINVAR
Nonmuscle Myosin Heavy Chain IIA Mutation Predicts Severity and Progression of Sensorineural Hearing Loss in Patients With MYH9-Related Disease.
26226608
2016
×
Entrez Id:
4627
Gene Symbol:
MYH9
MYH9
0.710
Biomarker
disease
GENOMICS_ENGLAND
Mutation spectrum and genotype-phenotype correlations in a large French cohort of MYH9-Related Disorders.
25077172
2014
×
Entrez Id:
4627
Gene Symbol:
MYH9
MYH9
0.710
CausalMutation
disease
CLINVAR
MYH9-related disease: a novel prognostic model to predict the clinical evolution of the disease based on genotype-phenotype correlations.
24186861
2014
×
Entrez Id:
4627
Gene Symbol:
MYH9
MYH9
0.710
CausalMutation
disease
CLINVAR
Familial cases with MYH9 disorders caused by MYH9 S96L mutation.
23409987
2013
×
Entrez Id:
4627
Gene Symbol:
MYH9
MYH9
0.710
CausalMutation
disease
CLINVAR
Bladder exstrophy and Epstein type congenital macrothrombocytopenia: evidence for a common cause?
16969870
2006
×
Entrez Id:
4627
Gene Symbol:
MYH9
MYH9
0.710
Biomarker
disease
CTD_human
Macrothrombocytopenia and progressive deafness is due to a mutation in MYH9.
12621333
2003
×
Entrez Id:
4627
Gene Symbol:
MYH9
MYH9
0.710
CausalMutation
disease
CLINVAR
Expression of the nonmuscle myosin heavy chain IIA in the human kidney and screening for MYH9 mutations in Epstein and Fechtner syndromes.
11752022
2002
×
Entrez Id:
4627
Gene Symbol:
MYH9
MYH9
0.710
Biomarker
disease
CTD_human
Nonmuscle myosin heavy chain IIA mutations define a spectrum of autosomal dominant macrothrombocytopenias: May-Hegglin anomaly and Fechtner, Sebastian, Epstein, and Alport-like syndromes.
11590545
2001
×
Entrez Id:
4627
Gene Symbol:
MYH9
MYH9
0.710
Biomarker
disease
CTD_human
Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes. The May-Heggllin/Fechtner Syndrome Consortium.
10973259
2000
×
Entrez Id:
4627
Gene Symbol:
MYH9
MYH9
0.710
GeneticVariation
disease
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
×
Entrez Id:
4627
Gene Symbol:
MYH9
MYH9
0.710
GeneticVariation
disease
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
×
Entrez Id:
4627
Gene Symbol:
MYH9
MYH9
0.710
Biomarker
disease
GENOMICS_ENGLAND
A five-generation family with late-onset progressive hereditary hearing impairment due to cochleosaccular degeneration.
9390828
1998
×
Entrez Id:
4627
Gene Symbol:
MYH9
MYH9
0.710
Biomarker
disease
GENOMICS_ENGLAND