DisGeNET - a database of gene-disease associations

May-Hegglin anomaly, C0340978

Source: ALL

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:

rs121913656

MYH9

0.800

GeneticVariation

UNIPROT

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

10973260

2000

dbSNP:

rs121913656

MYH9

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

dbSNP:

rs121913657

MYH9

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

dbSNP:

rs121913657

MYH9

0.800

GeneticVariation

UNIPROT

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

10973260

2000

dbSNP:

rs80338829

MYH9

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

dbSNP:

rs80338829

MYH9

0.800

GeneticVariation

UNIPROT

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

10973260

2000

dbSNP:

rs80338830

MYH9

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

dbSNP:

rs80338830

MYH9

0.800

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:

rs200901330

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

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

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

10973260

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:

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:

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:

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:

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:

rs80338834

MYH9

0.830

GeneticVariation

BEFREE

Haplotype analysis using three novel microsatellite markers revealed that three E1841K carriers--one with MHA and two with FTNS--shared a common haplotype around the MYH9 gene, suggesting a common ancestor.

11590545

2001

dbSNP:

rs80338826

MYH9

0.810

GeneticVariation

UNIPROT

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

11776386

2001

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:

rs80338826

MYH9

0.810

GeneticVariation

BEFREE

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:

rs80338827

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