Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 10235
Gene Symbol: RASGRP2
RASGRP2
BLEEDING DISORDER, PLATELET-TYPE, 18
0.700 Biomarker CLINGEN 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
BLEEDING DISORDER, PLATELET-TYPE, 18
0.700 Biomarker CLINGEN Expanded repertoire of RASGRP2 variants responsible for platelet dysfunction and severe bleeding. 28637664

2017

Entrez Id: 10235
Gene Symbol: RASGRP2
RASGRP2
BLEEDING DISORDER, PLATELET-TYPE, 18
0.700 Biomarker CLINGEN Novel mutations in RASGRP2, which encodes CalDAG-GEFI, abrogate Rap1 activation, causing platelet dysfunction. 27235135

2016

Entrez Id: 10235
Gene Symbol: RASGRP2
RASGRP2
BLEEDING DISORDER, PLATELET-TYPE, 18
0.700 Biomarker CLINGEN Mice Expressing Low Levels of CalDAG-GEFI Exhibit Markedly Impaired Platelet Activation With Minor Impact on Hemostasis. 27417588

2016

Entrez Id: 10235
Gene Symbol: RASGRP2
RASGRP2
BLEEDING DISORDER, PLATELET-TYPE, 18
0.700 Biomarker CLINGEN Human CalDAG-GEFI deficiency increases bleeding and delays αIIbβ3 activation. 27663674

2016

Entrez Id: 10235
Gene Symbol: RASGRP2
RASGRP2
BLEEDING DISORDER, PLATELET-TYPE, 18
0.700 Biomarker CLINGEN Human CalDAG-GEFI gene (RASGRP2) mutation affects platelet function and causes severe bleeding. 24958846

2014

Entrez Id: 10235
Gene Symbol: RASGRP2
RASGRP2
BLEEDING DISORDER, PLATELET-TYPE, 18
0.700 Biomarker CLINGEN A LAD-III syndrome is associated with defective expression of the Rap-1 activator CalDAG-GEFI in lymphocytes, neutrophils, and platelets. 17576779

2007

Entrez Id: 10235
Gene Symbol: RASGRP2
RASGRP2
BLEEDING DISORDER, PLATELET-TYPE, 18
0.700 Biomarker CLINGEN CalDAG-GEFI integrates signaling for platelet aggregation and thrombus formation. 15334074

2004

Entrez Id: 10235
Gene Symbol: RASGRP2
RASGRP2
BLEEDING DISORDER, PLATELET-TYPE, 18
0.700 Biomarker CLINGEN A Rap guanine nucleotide exchange factor enriched highly in the basal ganglia. 9789079

1998