DisGeNET - a database of gene-disease associations

Congenital amegakaryocytic thrombocytopenia, C1327915

Variant: rs587778514 ×

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:

rs587778514

MPL

0.700

CausalMutation

CLINVAR

Genetic features of myelodysplastic syndrome and aplastic anemia in pediatric and young adult patients.

27418648

2016

dbSNP:

rs587778514

MPL

0.700

CausalMutation

CLINVAR

Congenital amegakaryocytic thrombocytopenia: clinical and biological consequences of five novel mutations.

17666371

2007

dbSNP:

rs587778514

MPL

0.700

CausalMutation

CLINVAR

MPL mutations in 23 patients suffering from congenital amegakaryocytic thrombocytopenia: the type of mutation predicts the course of the disease.

16470591

2006

dbSNP:

rs587778514

MPL

0.700

CausalMutation

CLINVAR

c-mpl mutations are the cause of congenital amegakaryocytic thrombocytopenia.

11133753

2001