Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1789
Gene Symbol: DNMT3B
DNMT3B
0.450 GeneticVariation group BEFREE Mutations in the DNMT3B DNA methyltransferase gene cause the ICF immunodeficiency syndrome. 12900541 2002
Entrez Id: 1789
Gene Symbol: DNMT3B
DNMT3B
0.450 GeneticVariation group BEFREE Mutation in the DNMT3B DNA methyltransferase gene is a common cause of ICF (immunodeficiency, centromeric heterochromatin, facial anomalies) immunodeficiency syndrome and leads to hypomethylation of satellites 2 and 3 in pericentric heterochromatin. 11702227 2001
Entrez Id: 1789
Gene Symbol: DNMT3B
DNMT3B
0.450 Biomarker group BEFREE Chromosomal abnormalities associated with hypomethylation of classical satellite regions are characteristic for the ICF immunodeficiency syndrome. 11063717 2000
Entrez Id: 1789
Gene Symbol: DNMT3B
DNMT3B
0.450 GeneticVariation group BEFREE Lsh/HELLS is critical for normal development and mutations of Lsh in human cause the ICF (Immune deficiency, Centromeric instability, Facial anomalies) syndrome, a severe immune disorder with multiple organ deficiencies. 30861354 2019
Entrez Id: 1789
Gene Symbol: DNMT3B
DNMT3B
0.450 Biomarker group CTD_human Hematopoietic stem cell transplantation corrects the immunologic abnormalities associated with immunodeficiency-centromeric instability-facial dysmorphism syndrome. 17908720 2007
Entrez Id: 1789
Gene Symbol: DNMT3B
DNMT3B
0.450 GeneticVariation group BEFREE The DNMT3B DNA methyltransferase gene is mutated in the ICF immunodeficiency syndrome. 10588719 1999
Entrez Id: 1789
Gene Symbol: DNMT3B
DNMT3B
0.450 Biomarker group HPO
Entrez Id: 472
Gene Symbol: ATM
ATM
0.420 GeneticVariation group BEFREE ATM, the gene mutated in the human immunodeficiency disorder ataxia-telangiectasia (A-T), plays a central role in recognizing ionizing radiation damage in DNA and in controlling several cell cycle checkpoints. 11389091 2001
Entrez Id: 472
Gene Symbol: ATM
ATM
0.420 CausalMutation group CLINVAR
Entrez Id: 472
Gene Symbol: ATM
ATM
0.420 Biomarker group GENOMICS_ENGLAND Loss of the DNA Damage Repair Kinase ATM Impairs Inflammasome-Dependent Anti-Bacterial Innate Immunity. 27421701 2016
Entrez Id: 472
Gene Symbol: ATM
ATM
0.420 GeneticVariation group BEFREE Expression of the main human NBS allele rescues the lethality of Nbs1-/- mice, but leads to immunodeficiency, cancer predisposition, a defect in meiotic progression in females and cell-cycle checkpoint defects that are associated with a partial reduction in Atm activity. 15965469 2005
Entrez Id: 472
Gene Symbol: ATM
ATM
0.420 GeneticVariation group CLINVAR
Entrez Id: 916
Gene Symbol: CD3E
CD3E
0.410 Biomarker group BEFREE Identification of the transgenic integration site in immunodeficient tgε26 human CD3ε transgenic mice. 21203507 2010
Entrez Id: 916
Gene Symbol: CD3E
CD3E
0.410 Biomarker group HPO
Entrez Id: 916
Gene Symbol: CD3E
CD3E
0.410 Biomarker group CTD_human Independent mutations of the human CD3-epsilon gene resulting in a T cell receptor/CD3 complex immunodeficiency. 8490660 1993
Entrez Id: 57724
Gene Symbol: EPG5
EPG5
0.400 Biomarker group CTD_human Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy. 23222957 2013
Entrez Id: 8547
Gene Symbol: FCN3
FCN3
0.400 Biomarker group CTD_human Immunodeficiency associated with FCN3 mutation and ficolin-3 deficiency. 19535802 2009
Entrez Id: 57724
Gene Symbol: EPG5
EPG5
0.400 Biomarker group HPO
Entrez Id: 8547
Gene Symbol: FCN3
FCN3
0.400 Biomarker group HPO
Entrez Id: 948
Gene Symbol: CD36
CD36
0.330 Biomarker group CTD_human Here we show that an N-ethyl-N-nitrosourea-induced nonsense mutation of Cd36 (oblivious) causes a recessive immunodeficiency phenotype in which macrophages are insensitive to the R-enantiomer of MALP-2 (a diacylated bacterial lipopeptide) and to lipoteichoic acid. 15690042 2005
Entrez Id: 948
Gene Symbol: CD36
CD36
0.330 GeneticVariation group BEFREE Here we show that an N-ethyl-N-nitrosourea-induced nonsense mutation of Cd36 (oblivious) causes a recessive immunodeficiency phenotype in which macrophages are insensitive to the R-enantiomer of MALP-2 (a diacylated bacterial lipopeptide) and to lipoteichoic acid. 15690042 2005
Entrez Id: 948
Gene Symbol: CD36
CD36
0.330 Biomarker group BEFREE The use of neutralizing antibodies to block CD36 causes almost complete inhibition of metastasis in immunodeficient or immunocompetent orthotopic mouse models of human oral cancer, with no side effects. 27974793 2017
Entrez Id: 948
Gene Symbol: CD36
CD36
0.330 Biomarker group BEFREE Expression of genes involved in cholesterol uptake (LDLR, CD36), synthesis (HMGCR), and regulation (SREBP2, LXRA) was significantly lower in both ART-Treated and ART-Naive subjects than in HIV-Neg controls. 23204179 2013
Entrez Id: 7535
Gene Symbol: ZAP70
ZAP70
0.310 Biomarker group CTD_human Novel mouse mutants with primary cellular immunodeficiencies generated by genome-wide mutagenesis. 17767948 2008
Entrez Id: 7535
Gene Symbol: ZAP70
ZAP70
0.310 Biomarker group BEFREE Immunodeficiency diseases. Multiple roles for ZAP-70. 7953563 1994