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:

rs80338831

MYH9

0.830

GeneticVariation

UNIPROT

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

16969870

2006

dbSNP:

rs80338834

MYH9

0.830

GeneticVariation

UNIPROT

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

16969870

2006

dbSNP:

rs80338831

MYH9

0.830

GeneticVariation

UNIPROT

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

12649151

2003

dbSNP:

rs80338831

MYH9

0.830

GeneticVariation

UNIPROT

Immunofluorescence analysis of neutrophil nonmuscle myosin heavy chain-A in MYH9 disorders: association of subcellular localization with MYH9 mutations.

12533692

2003

dbSNP:

rs80338831

MYH9

0.830

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:

rs80338831

MYH9

0.830

GeneticVariation

UNIPROT

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

12621333

2003

dbSNP:

rs80338834

MYH9

0.830

GeneticVariation

UNIPROT

Immunofluorescence analysis of neutrophil nonmuscle myosin heavy chain-A in MYH9 disorders: association of subcellular localization with MYH9 mutations.

12533692

2003

dbSNP:

rs80338834

MYH9

0.830

GeneticVariation

UNIPROT

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

12621333

2003

dbSNP:

rs80338834

MYH9

0.830

GeneticVariation

UNIPROT

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

12649151

2003

dbSNP:

rs80338834

MYH9

0.830

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:

rs80338831

MYH9

0.830

GeneticVariation

UNIPROT

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

11935325

2002

dbSNP:

rs80338831

MYH9

0.830

GeneticVariation

UNIPROT

Two mutations (E1841K and D1424N) have been reported elsewhere in families with May-Hegglin anomaly.

11752022

2002

dbSNP:

rs80338834

MYH9

0.830

GeneticVariation

UNIPROT

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

11935325

2002

dbSNP:

rs80338834

MYH9

0.830

GeneticVariation

UNIPROT

Two mutations (E1841K and D1424N) have been reported elsewhere in families with May-Hegglin anomaly.

11752022

2002

dbSNP:

rs80338831

MYH9

0.830

GeneticVariation

UNIPROT

The E1841K, D1424N, and R1933X coiled-coil domain mutations were common to both MHA and FTNS.

11590545

2001

dbSNP:

rs80338831

MYH9

0.830

GeneticVariation

UNIPROT

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

11776386

2001

dbSNP:

rs80338834

MYH9

0.830

GeneticVariation

UNIPROT

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

11776386

2001

dbSNP:

rs80338834

MYH9

0.830

GeneticVariation

UNIPROT

The E1841K, D1424N, and R1933X coiled-coil domain mutations were common to both MHA and FTNS.

11590545

2001

dbSNP:

rs80338831

MYH9

0.830

GeneticVariation

UNIPROT

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

10973260

2000

dbSNP:

rs80338831

MYH9

0.830

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:

rs80338834

MYH9

0.830

GeneticVariation

UNIPROT

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

10973260

2000

dbSNP:

rs80338834

MYH9

0.830

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:

rs80338826

MYH9

0.810

GeneticVariation

UNIPROT

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

16969870

2006

dbSNP:

rs80338827

MYH9

0.810

GeneticVariation

UNIPROT

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

16969870

2006

dbSNP:

rs80338826

MYH9

0.810

GeneticVariation

UNIPROT

Immunofluorescence analysis of neutrophil nonmuscle myosin heavy chain-A in MYH9 disorders: association of subcellular localization with MYH9 mutations.

12533692

2003