MAGT1, magnesium transporter 1, 84061

N. diseases: 120; N. variants: 8
Disease: X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3275445
Disease: X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia 		0.730 GeneticVariation disease BEFREE X-linked immunodeficiency with magnesium defect, EBV infection, and neoplasia (XMEN) disease is caused by deficiency of the magnesium transporter 1 (MAGT1) gene. 31714901 2020
CUI: C3275445
Disease: X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia 		0.730 GeneticVariation disease BEFREE In humans, loss-of-function mutations in the <i>MAGT1</i> gene cause X-linked magnesium deficiency with Epstein-Barr virus (EBV) infection and neoplasia (XMEN), a disease that has a broad range of clinical and immunological consequences. 31337704 2019
CUI: C3275445
Disease: X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia 		0.730 Biomarker disease GENOMICS_ENGLAND Immunological aspects of congenital disorders of glycosylation (CDG): a review. 27393411 2016
CUI: C3275445
Disease: X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia 		0.730 GeneticVariation disease BEFREE Identification of a novel mutation in MAGT1 and progressive multifocal leucoencephalopathy in a 58-year-old man with XMEN disease. 25504528 2015
CUI: C3275445
Disease: X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia 		0.730 Biomarker disease GENOMICS_ENGLAND Second messenger role for Mg2+ revealed by human T-cell immunodeficiency. 21796205 2011
CUI: C3275445
Disease: X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia 		0.730 Biomarker disease GENOMICS_ENGLAND Second messenger role for Mg2+ revealed by human T-cell immunodeficiency. 21796205 2011
CUI: C3275445
Disease: X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia 		0.730 GermlineCausalMutation disease ORPHANET
CUI: C3275445
Disease: X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia 		0.730 CausalMutation disease CLINVAR
CUI: C3275445
Disease: X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia 		0.730 Biomarker disease CTD_human