Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 10235
Gene Symbol: RASGRP2
RASGRP2
CUI: C0005779
Disease: Blood Coagulation Disorders
Blood Coagulation Disorders 		0.050 GeneticVariation BEFREE Novel variants in FERMT3 and RASGRP2-Genetic linkage in Glanzmann-like bleeding disorders. 31724816

2020
Entrez Id: 10235
Gene Symbol: RASGRP2
RASGRP2
CUI: C0005779
Disease: Blood Coagulation Disorders
Blood Coagulation Disorders 		0.050 GeneticVariation BEFREE This manuscript reviews pathogenic variants in RASGRP2, which are the cause of a relatively new autosomal recessive and nonsyndromic inherited platelet function disorder, referred to as platelet-type bleeding disorder-18 (BDPLT18)(OMIM:615888). 30849270

2019
Entrez Id: 10235
Gene Symbol: RASGRP2
RASGRP2
CUI: C0005779
Disease: Blood Coagulation Disorders
Blood Coagulation Disorders 		0.050 GeneticVariation BEFREE 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: C0005779
Disease: Blood Coagulation Disorders
Blood Coagulation Disorders 		0.050 GeneticVariation BEFREE 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: C0005779
Disease: Blood Coagulation Disorders
Blood Coagulation Disorders 		0.050 GeneticVariation BEFREE We used next-generation sequencing (NGS) and whole-exome sequencing (WES) to identify 2 novel function-disrupting mutations in RASGRP2 that account for bleeding diathesis and platelet dysfunction in 2 unrelated families. 27235135

2016