×
Entrez Id: 4627
Gene Symbol: MYH9
MYH9
May-Hegglin anomaly
1.000
Biomarker
CLINGEN
R705H mutation of MYH9 is associated with MYH9-related disease and not only with non-syndromic deafness DFNA17.
24890873 2015
×
Entrez Id: 4627
Gene Symbol: MYH9
MYH9
May-Hegglin anomaly
1.000
Biomarker
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
May-Hegglin anomaly
1.000
Biomarker
CLINGEN
c.G2114A MYH9 mutation (DFNA17) causes non-syndromic autosomal dominant hearing loss in a Brazilian family.
25505834 2014
×
Entrez Id: 4627
Gene Symbol: MYH9
MYH9
May-Hegglin anomaly
1.000
Biomarker
GENOMICS_ENGLAND
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
May-Hegglin anomaly
1.000
Biomarker
CLINGEN
Establishment of mouse model of MYH9 disorders: heterozygous R702C mutation provokes macrothrombocytopenia with leukocyte inclusion bodies, renal glomerulosclerosis and hearing disability.
23976996 2013
×
Entrez Id: 4627
Gene Symbol: MYH9
MYH9
May-Hegglin anomaly
1.000
Biomarker
CLINGEN
Mouse models of MYH9-related disease: mutations in nonmuscle myosin II-A.
21908426 2012
×
Entrez Id: 4627
Gene Symbol: MYH9
MYH9
May-Hegglin anomaly
1.000
Biomarker
CLINGEN
Recent advances in the understanding and management of MYH9-related inherited thrombocytopenias.
21542825 2011
×
Entrez Id: 4627
Gene Symbol: MYH9
MYH9
May-Hegglin anomaly
1.000
Biomarker
GENOMICS_ENGLAND
Heavy chain myosin 9-related disease (MYH9 -RD): neutrophil inclusions of myosin-9 as a pathognomonic sign of the disorder.
20174760 2010
×
Entrez Id: 4627
Gene Symbol: MYH9
MYH9
May-Hegglin anomaly
1.000
Biomarker
CLINGEN
Cochlear implants for DFNA17 deafness.
17146397 2006
×
Entrez Id: 4627
Gene Symbol: MYH9
MYH9
May-Hegglin anomaly
1.000
GeneticVariation
UNIPROT
Bladder exstrophy and Epstein type congenital macrothrombocytopenia: evidence for a common cause?
16969870 2006
×
Entrez Id: 4627
Gene Symbol: MYH9
MYH9
May-Hegglin anomaly
1.000
Biomarker
CLINGEN
Expression of Myh9 in the mammalian cochlea: localization within the stereocilia.
16862555 2006
×
Entrez Id: 4627
Gene Symbol: MYH9
MYH9
May-Hegglin anomaly
1.000
Biomarker
CLINGEN
Absence of hearing loss in a mouse model for DFNA17 and MYH9-related disease: the use of public gene-targeted ES cell resources.
16630581 2006
×
Entrez Id: 4627
Gene Symbol: MYH9
MYH9
May-Hegglin anomaly
1.000
Biomarker
CLINGEN
Pathogenetic mechanisms of hematological abnormalities of patients with MYH9 mutations.
16162639 2005
×
Entrez Id: 4627
Gene Symbol: MYH9
MYH9
May-Hegglin anomaly
1.000
Biomarker
CLINGEN
Rod mutations associated with MYH9-related disorders disrupt nonmuscle myosin-IIA assembly.
15339844 2005
×
Entrez Id: 4627
Gene Symbol: MYH9
MYH9
May-Hegglin anomaly
1.000
GeneticVariation
UNIPROT
MYH9-related disease: May-Hegglin anomaly, Sebastian syndrome, Fechtner syndrome, and Epstein syndrome are not distinct entities but represent a variable expression of a single illness.
12792306 2003
×
Entrez Id: 4627
Gene Symbol: MYH9
MYH9
May-Hegglin anomaly
1.000
GeneticVariation
UNIPROT
Asp1424Asn MYH9 mutation results in an unstable protein responsible for the phenotypes in May-Hegglin anomaly /Fechtner syndrome.
12649151 2003
×
Entrez Id: 4627
Gene Symbol: MYH9
MYH9
May-Hegglin anomaly
1.000
GeneticVariation
UNIPROT
Macrothrombocytopenia and progressive deafness is due to a mutation in MYH9.
12621333 2003
×
Entrez Id: 4627
Gene Symbol: MYH9
MYH9
May-Hegglin anomaly
1.000
GeneticVariation
UNIPROT
Immunofluorescence analysis of neutrophil nonmuscle myosin heavy chain-A in MYH9 disorders: association of subcellular localization with MYH9 mutations.
12533692 2003
×
Entrez Id: 4627
Gene Symbol: MYH9
MYH9
May-Hegglin anomaly
1.000
GeneticVariation
UNIPROT
Mutations in the MYH9 gene, which encodes the nonmuscle myosin heavy chain IIA, have been recently reported in three syndromes that share the association of macrothrombocytopenia (MTCP) and leukocyte inclusions: the May-Hegglin anomaly and Sebastian and Fechtner syndromes.
11752022 2002
×
Entrez Id: 4627
Gene Symbol: MYH9
MYH9
May-Hegglin anomaly
1.000
GeneticVariation
UNIPROT
EPTS macrothrombocytopenia is similar to that described in FTNS, May-Hegglin anomaly (MHA ), and Sebastian syndrome (SBS), three disorders caused by mutations in the nonmuscle heavy chain myosin IIA ( MYH9 ).
11935325 2002
×
Entrez Id: 4627
Gene Symbol: MYH9
MYH9
May-Hegglin anomaly
1.000
GeneticVariation
UNIPROT
Altogether, our data suggest that MHA , SBS, FTNS, EPS, and APSM comprise a phenotypic spectrum of disorders, all caused by MYH9 mutations.
11590545 2001
×
Entrez Id: 4627
Gene Symbol: MYH9
MYH9
May-Hegglin anomaly
1.000
GeneticVariation
UNIPROT
Identification of six novel MYH9 mutations and genotype-phenotype relationships in autosomal dominant macrothrombocytopenia with leukocyte inclusions .
11776386 2001
×
Entrez Id: 4627
Gene Symbol: MYH9
MYH9
May-Hegglin anomaly
1.000
GeneticVariation
UNIPROT
The identification of MYH9 as the disease gene for MHA establishes the pathogenesis of the disorder, should provide further insight into the processes of normal platelet formation and may facilitate identification of the genetic basis of related disorders.
10973260 2000
×
Entrez Id: 4627
Gene Symbol: MYH9
MYH9
May-Hegglin anomaly
1.000
GeneticVariation
UNIPROT
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
May-Hegglin anomaly
1.000
Biomarker
CLINGEN
A five-generation family with late-onset progressive hereditary hearing impairment due to cochleosaccular degeneration.
9390828 1998