DisGeNET - a database of gene-disease associations

Thrombocythemia, Essential, C0040028

Variant: rs146249964 ×

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:

rs146249964

rs146249964

MPL

A

0.700

GeneticVariation

CLINVAR

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

2001

dbSNP:

rs146249964

rs146249964

MPL

A

0.700

GeneticVariation

CLINVAR

Thrombocytopenia in c-mpl-deficient mice.

1994