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:

rs80338826

MYH9

0.810

GeneticVariation

UNIPROT

R702C and R702H mutations were only associated with FTNS, EPS, or APSM, thus defining a region of MYHIIA critical in the combined pathogenesis of macrothrombocytopenia, nephritis, and deafness.

11590545

2001

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:

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:

rs80338826

MYH9

0.810

GeneticVariation

UNIPROT

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

12649151

2003

dbSNP:

rs80338827

MYH9

0.810

GeneticVariation

UNIPROT

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

12649151

2003

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

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:

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:

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:

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:

rs200901330

MYH9

0.700

GeneticVariation

UNIPROT

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

12649151

2003

dbSNP:

rs554332083

MYH9

0.700

GeneticVariation

UNIPROT

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

12649151

2003

dbSNP:

rs762773112

MYH9

0.700

GeneticVariation

UNIPROT

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

12649151

2003

dbSNP:

rs76368635

MYH9

0.700

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

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:

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:

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:

rs200901330

MYH9

0.700

GeneticVariation

UNIPROT

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

16969870

2006

dbSNP:

rs554332083

MYH9

0.700

GeneticVariation

UNIPROT

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

16969870

2006