RASGRP1, RAS guanyl releasing protein 1, 10125

N. diseases: 110; N. variants: 11
Disease: B-Cell Lymphomas ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0079731
Disease: B-Cell Lymphomas
B-Cell Lymphomas 		0.120 Biomarker group BEFREE RAS guanyl-releasing protein 1 (RASGRP1) deficiency has recently been shown to cause a primary immunodeficiency (PID) characterized by CD4<sup>+</sup> T cell lymphopenia and Epstein-Barr virus (EBV)-associated B cell lymphoma. 30030704 2018
CUI: C0079731
Disease: B-Cell Lymphomas
B-Cell Lymphomas 		0.120 GeneticVariation group BEFREE Combined immunodeficiency with EBV positive B cell lymphoma and epidermodysplasia verruciformis due to a novel homozygous mutation in RASGRP1. 28822832 2017
CUI: C0079731
Disease: B-Cell Lymphomas
B-Cell Lymphomas 		0.120 Biomarker group HPO