Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1789
Gene Symbol: DNMT3B
DNMT3B
0.440 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
0.440 GeneticVariation group BEFREE Mutations in the DNMT3B DNA methyltransferase gene cause the ICF immunodeficiency syndrome. 12900541 2004
Entrez Id: 1789
Gene Symbol: DNMT3B
DNMT3B
0.440 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
0.440 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
0.440 GeneticVariation group BEFREE The DNMT3B DNA methyltransferase gene is mutated in the ICF immunodeficiency syndrome. 10588719 2000
Entrez Id: 1789
Gene Symbol: DNMT3B
DNMT3B
0.440 Biomarker group HPO
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 2011
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: 916
Gene Symbol: CD3E
CD3E
0.410 Biomarker group HPO
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: 84061
Gene Symbol: MAGT1
MAGT1
0.310 Biomarker group MGD Cutting Edge: Imbalanced Cation Homeostasis in MAGT1-Deficient B Cells Dysregulates B Cell Development and Signaling in Mice. 29581357 2018
Entrez Id: 84061
Gene Symbol: MAGT1
MAGT1
0.310 GeneticVariation group BEFREE XMEN disease (X-linked immunodeficiency with Magnesium defect, Epstein-Barr virus infection and Neoplasia) is a novel primary immune deficiency caused by mutations in MAGT1 and characterised by chronic infection with Epstein-Barr virus (EBV), EBV-driven lymphoma, CD4 T-cell lymphopenia, and dysgammaglobulinemia [1]. 25504528 2015
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: 948
Gene Symbol: CD36
CD36
0.310 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
0.310 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: 7535
Gene Symbol: ZAP70
ZAP70
0.310 Biomarker group BEFREE Immunodeficiency diseases. Multiple roles for ZAP-70. 7953563 1994
Entrez Id: 84061
Gene Symbol: MAGT1
MAGT1
0.310 Biomarker group HPO
Entrez Id: 3953
Gene Symbol: LEPR
LEPR
0.300 Biomarker group CTD_human Clinical and molecular genetic spectrum of congenital deficiency of the leptin receptor. 17229951 2007
Entrez Id: 1675
Gene Symbol: CFD
CFD
0.300 Biomarker group CTD_human Deficient alternative complement pathway activation due to factor D deficiency by 2 novel mutations in the complement factor D gene in a family with meningococcal infections. 16527897 2006
Entrez Id: 775
Gene Symbol: CACNA1C
CACNA1C
0.300 Biomarker group CTD_human Ca(V)1.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism. 15454078 2004
Entrez Id: 3075
Gene Symbol: CFH
CFH
0.300 Biomarker group CTD_human Heterozygous and homozygous factor h deficiencies associated with hemolytic uremic syndrome or membranoproliferative glomerulonephritis: report and genetic analysis of 16 cases. 14978182 2004
Entrez Id: 735
Gene Symbol: C9
C9
0.300 Biomarker group CTD_human Hereditary complement (C9) deficiency associated with dermatomyositis. 11359403 2001