DisGeNET - a database of gene-disease associations

May-Hegglin anomaly, C0340978

Gene: MYH9 ×

Source: UNIPROT ×

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs762773112

MYH9

0.700

GeneticVariation

UNIPROT

Epstein syndrome: another renal disorder with mutations in the nonmuscle myosin heavy chain 9 gene.

11935325

2002

dbSNP:

rs76368635

MYH9

0.700

GeneticVariation

UNIPROT

Epstein syndrome: another renal disorder with mutations in the nonmuscle myosin heavy chain 9 gene.

11935325

2002

dbSNP:

rs76368635

MYH9

0.700

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

dbSNP:

rs200901330

MYH9

0.700

GeneticVariation

UNIPROT

Identification of six novel MYH9 mutations and genotype-phenotype relationships in autosomal dominant macrothrombocytopenia with leukocyte inclusions.

11776386

2001

dbSNP:

rs200901330

MYH9

0.700

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

dbSNP:

rs554332083

MYH9

0.700

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

dbSNP:

rs554332083

MYH9

0.700

GeneticVariation

UNIPROT

Identification of six novel MYH9 mutations and genotype-phenotype relationships in autosomal dominant macrothrombocytopenia with leukocyte inclusions.

11776386

2001

dbSNP:

rs762773112

MYH9

0.700

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

dbSNP:

rs762773112

MYH9

0.700

GeneticVariation

UNIPROT

Identification of six novel MYH9 mutations and genotype-phenotype relationships in autosomal dominant macrothrombocytopenia with leukocyte inclusions.

11776386

2001

dbSNP:

rs76368635

MYH9

0.700

GeneticVariation

UNIPROT

Identification of six novel MYH9 mutations and genotype-phenotype relationships in autosomal dominant macrothrombocytopenia with leukocyte inclusions.

11776386

2001

dbSNP:

rs76368635

MYH9

0.700

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

dbSNP:

rs200901330

MYH9

0.700

GeneticVariation

UNIPROT

Mutation of MYH9, encoding non-muscle myosin heavy chain A, in May-Hegglin anomaly.

10973260

2000

dbSNP:

rs200901330

MYH9

0.700

GeneticVariation

UNIPROT

Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes. The May-Heggllin/Fechtner Syndrome Consortium.

10973259

2000

dbSNP:

rs554332083

MYH9

0.700

GeneticVariation

UNIPROT

Mutation of MYH9, encoding non-muscle myosin heavy chain A, in May-Hegglin anomaly.

10973260

2000

dbSNP:

rs554332083

MYH9

0.700

GeneticVariation

UNIPROT

Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes. The May-Heggllin/Fechtner Syndrome Consortium.

10973259

2000

dbSNP:

rs762773112

MYH9

0.700

GeneticVariation

UNIPROT

Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes. The May-Heggllin/Fechtner Syndrome Consortium.

10973259

2000

dbSNP:

rs762773112

MYH9

0.700

GeneticVariation

UNIPROT

Mutation of MYH9, encoding non-muscle myosin heavy chain A, in May-Hegglin anomaly.

10973260

2000

dbSNP:

rs76368635

MYH9

0.700

GeneticVariation

UNIPROT

Mutation of MYH9, encoding non-muscle myosin heavy chain A, in May-Hegglin anomaly.

10973260

2000

dbSNP:

rs76368635

MYH9

0.700

GeneticVariation

UNIPROT

Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes. The May-Heggllin/Fechtner Syndrome Consortium.

10973259

2000

dbSNP:

rs121913655

MYH9

0.800

GeneticVariation

UNIPROT

Bladder exstrophy and Epstein type congenital macrothrombocytopenia: evidence for a common cause?

16969870

2006

dbSNP:

rs121913656

MYH9

0.800

GeneticVariation

UNIPROT

Bladder exstrophy and Epstein type congenital macrothrombocytopenia: evidence for a common cause?

16969870

2006

dbSNP:

rs121913657

MYH9

0.800

GeneticVariation

UNIPROT

Bladder exstrophy and Epstein type congenital macrothrombocytopenia: evidence for a common cause?

16969870

2006

dbSNP:

rs80338829

MYH9

0.800

GeneticVariation

UNIPROT

Bladder exstrophy and Epstein type congenital macrothrombocytopenia: evidence for a common cause?

16969870

2006

dbSNP:

rs80338830

MYH9

0.800

GeneticVariation

UNIPROT

Bladder exstrophy and Epstein type congenital macrothrombocytopenia: evidence for a common cause?

16969870

2006

dbSNP:

rs121913655

MYH9

0.800

GeneticVariation

UNIPROT

Asp1424Asn MYH9 mutation results in an unstable protein responsible for the phenotypes in May-Hegglin anomaly/Fechtner syndrome.

12649151

2003