Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1493
Gene Symbol: CTLA4
CTLA4
CUI: C0009447
Disease: Common Variable Immunodeficiency
Common Variable Immunodeficiency 		0.350 Biomarker BEFREE Thus, cytotoxic T lymphocyte-associated antigen 4 or caspase-9 deficiency presenting with CVID-like phenotypes reiterate concepts of immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome and autoimmune lymphoproliferative syndrome. 26485099

2015
Entrez Id: 1493
Gene Symbol: CTLA4
CTLA4
CUI: C0009447
Disease: Common Variable Immunodeficiency
Common Variable Immunodeficiency 		0.350 Biomarker GENOMICS_ENGLAND Autosomal dominant immune dysregulation syndrome in humans with CTLA4 mutations. 25329329

2014
Entrez Id: 1493
Gene Symbol: CTLA4
CTLA4
CUI: C0009447
Disease: Common Variable Immunodeficiency
Common Variable Immunodeficiency 		0.350 AlteredExpression BEFREE The mRNAs of CTLA-4 and GITR genes were expressed at lower levels in CVID patients compared to control group (P = 0.005 and <0.001, respectively). 23432692

2013
Entrez Id: 1493
Gene Symbol: CTLA4
CTLA4
CUI: C0009447
Disease: Common Variable Immunodeficiency
Common Variable Immunodeficiency 		0.350 GeneticVariation BEFREE +49 A > G changes in exon 1 of CTLA-4 gene: GG and AG genotypes increase the risk of CVID development 1.32 and 2.18 fold, respectively. 22699762

2012
Entrez Id: 1493
Gene Symbol: CTLA4
CTLA4
CUI: C0009447
Disease: Common Variable Immunodeficiency
Common Variable Immunodeficiency 		0.350 Biomarker BEFREE Association was found between CTLA4-ICOS and both IgAD (P=0.0015) and CVID (P=0.0064). 19020530

2009
Entrez Id: 1493
Gene Symbol: CTLA4
CTLA4
CUI: C0009447
Disease: Common Variable Immunodeficiency
Common Variable Immunodeficiency 		0.350 GeneticVariation BEFREE CTLA-4 gene exon-1 +49 A/G polymorphism: lack of association with autoimmune disease in patients with common variable immune deficiency. 17192819

2007