rs121913655
×
Entrez Id:
4627
Gene Symbol:
MYH9
MYH9
May-Hegglin anomaly
0.800
GeneticVariation
UNIPROT
Bladder exstrophy and Epstein type congenital macrothrombocytopenia: evidence for a common cause?
16969870
2006
rs121913655
×
Entrez Id:
4627
Gene Symbol:
MYH9
MYH9
May-Hegglin anomaly
0.800
GeneticVariation
UNIPROT
Asp1424Asn MYH9 mutation results in an unstable protein responsible for the phenotypes in May-Hegglin anomaly/Fechtner syndrome.
12649151
2003
rs121913655
×
Entrez Id:
4627
Gene Symbol:
MYH9
MYH9
May-Hegglin anomaly
0.800
GeneticVariation
UNIPROT
Immunofluorescence analysis of neutrophil nonmuscle myosin heavy chain-A in MYH9 disorders: association of subcellular localization with MYH9 mutations.
12533692
2003
rs121913655
×
Entrez Id:
4627
Gene Symbol:
MYH9
MYH9
May-Hegglin anomaly
0.800
GeneticVariation
UNIPROT
Macrothrombocytopenia and progressive deafness is due to a mutation in MYH9.
12621333
2003
rs121913655
×
Entrez Id:
4627
Gene Symbol:
MYH9
MYH9
May-Hegglin anomaly
0.800
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
rs121913655
×
Entrez Id:
4627
Gene Symbol:
MYH9
MYH9
May-Hegglin anomaly
0.800
GeneticVariation
UNIPROT
Epstein syndrome: another renal disorder with mutations in the nonmuscle myosin heavy chain 9 gene.
11935325
2002
rs121913655
×
Entrez Id:
4627
Gene Symbol:
MYH9
MYH9
May-Hegglin anomaly
0.800
GeneticVariation
UNIPROT
Expression of the nonmuscle myosin heavy chain IIA in the human kidney and screening for MYH9 mutations in Epstein and Fechtner syndromes.
11752022
2002
rs121913655
×
Entrez Id:
4627
Gene Symbol:
MYH9
MYH9
May-Hegglin anomaly
0.800
GeneticVariation
UNIPROT
Identification of six novel MYH9 mutations and genotype-phenotype relationships in autosomal dominant macrothrombocytopenia with leukocyte inclusions.
11776386
2001
rs121913655
×
Entrez Id:
4627
Gene Symbol:
MYH9
MYH9
May-Hegglin anomaly
0.800
GeneticVariation
UNIPROT
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
rs121913655
×
Entrez Id:
4627
Gene Symbol:
MYH9
MYH9
May-Hegglin anomaly
0.800
GeneticVariation
UNIPROT
Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes. The May-Heggllin/Fechtner Syndrome Consortium.
10973259
2000
rs121913655
×
Entrez Id:
4627
Gene Symbol:
MYH9
MYH9
May-Hegglin anomaly
0.800
GeneticVariation
UNIPROT
Mutation of MYH9, encoding non-muscle myosin heavy chain A, in May-Hegglin anomaly.
10973260
2000
rs121913655
×
Entrez Id:
4627
Gene Symbol:
MYH9
MYH9
May-Hegglin anomaly
C
0.800
CausalMutation
CLINVAR