DisGeNET - a database of gene-disease associations

Source: UNIPROT

Disease: BLEEDING DISORDER, PLATELET-TYPE, 18 ×

Gene: RASGRP2 ×

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _g

DPI _g

pLI

EI _gda

EL _gda

Score _gda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Gene

Disease

Score _gda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	10235
Gene Symbol:	RASGRP2

RASGRP2

CUI:	C4014584
Disease:	BLEEDING DISORDER, PLATELET-TYPE, 18

BLEEDING DISORDER, PLATELET-TYPE, 18

0.700

GeneticVariation

UNIPROT

Marked bleeding diathesis in patients with platelet dysfunction due to a novel mutation in RASGRP2, encoding CalDAG-GEFI (p.Gly305Asp).

28726538

2018

Entrez Id:	10235
Gene Symbol:	RASGRP2

RASGRP2

CUI:	C4014584
Disease:	BLEEDING DISORDER, PLATELET-TYPE, 18

BLEEDING DISORDER, PLATELET-TYPE, 18

0.700

GeneticVariation

UNIPROT

Identification of two novel mutations in RASGRP2 affecting platelet CalDAG-GEFI expression and function in patients with bleeding diathesis.

28762304

2018

Entrez Id:	10235
Gene Symbol:	RASGRP2

RASGRP2

CUI:	C4014584
Disease:	BLEEDING DISORDER, PLATELET-TYPE, 18

BLEEDING DISORDER, PLATELET-TYPE, 18

0.700

GeneticVariation

UNIPROT

Novel mutations in RASGRP2, which encodes CalDAG-GEFI, abrogate Rap1 activation, causing platelet dysfunction.

27235135

2016

Entrez Id:	10235
Gene Symbol:	RASGRP2

RASGRP2

CUI:	C4014584
Disease:	BLEEDING DISORDER, PLATELET-TYPE, 18

BLEEDING DISORDER, PLATELET-TYPE, 18

0.700

GeneticVariation

UNIPROT

Human CalDAG-GEFI gene (RASGRP2) mutation affects platelet function and causes severe bleeding.

24958846

2014