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:

rs121913655

MYH9

0.800

GeneticVariation

UNIPROT

Macrothrombocytopenia and progressive deafness is due to a mutation in MYH9.

12621333

2003

dbSNP:

rs121913655

MYH9

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

dbSNP:

rs121913655

MYH9

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

dbSNP:

rs121913656

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

dbSNP:

rs121913656

MYH9

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

dbSNP:

rs121913656

MYH9

0.800

GeneticVariation

UNIPROT

Macrothrombocytopenia and progressive deafness is due to a mutation in MYH9.

12621333

2003

dbSNP:

rs121913656

MYH9

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

dbSNP:

rs121913657

MYH9

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

dbSNP:

rs121913657

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

dbSNP:

rs121913657

MYH9

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

dbSNP:

rs121913657

MYH9

0.800

GeneticVariation

UNIPROT

Macrothrombocytopenia and progressive deafness is due to a mutation in MYH9.

12621333

2003

dbSNP:

rs80338829

MYH9

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

dbSNP:

rs80338829

MYH9

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

dbSNP:

rs80338829

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

dbSNP:

rs80338829

MYH9

0.800

GeneticVariation

UNIPROT

Macrothrombocytopenia and progressive deafness is due to a mutation in MYH9.

12621333

2003

dbSNP:

rs80338830

MYH9

0.800

GeneticVariation

UNIPROT

Macrothrombocytopenia and progressive deafness is due to a mutation in MYH9.

12621333

2003

dbSNP:

rs80338830

MYH9

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

dbSNP:

rs80338830

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

dbSNP:

rs80338830

MYH9

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

dbSNP:

rs121913655

MYH9

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

dbSNP:

rs121913655

MYH9

0.800

GeneticVariation

UNIPROT

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

11935325

2002

dbSNP:

rs121913656

MYH9

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

dbSNP:

rs121913656

MYH9

0.800

GeneticVariation

UNIPROT

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

11935325

2002

dbSNP:

rs121913657

MYH9

0.800

GeneticVariation

UNIPROT

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

11935325

2002

dbSNP:

rs121913657

MYH9

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