Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 54822
Gene Symbol: TRPM7
TRPM7
CUI: C0021053
Disease: Immune System Diseases
Immune System Diseases
0.300 Biomarker CTD_human TRPM7 is the central gatekeeper of intestinal mineral absorption essential for postnatal survival. 30770447

2019

Entrez Id: 6499
Gene Symbol: SKIV2L
SKIV2L
CUI: C0021053
Disease: Immune System Diseases
Immune System Diseases
0.300 Biomarker GENOMICS_ENGLAND Management of syndromic diarrhea/tricho-hepato-enteric syndrome: A review of the literature. 28944135

2017

Entrez Id: 9652
Gene Symbol: TTC37
TTC37
CUI: C0021053
Disease: Immune System Diseases
Immune System Diseases
0.300 Biomarker GENOMICS_ENGLAND Exome sequencing identifies a novel TTC37 mutation in the first reported case of Trichohepatoenteric syndrome (THE-S) in South Africa. 28292286

2017

Entrez Id: 383
Gene Symbol: ARG1
ARG1
CUI: C0021053
Disease: Immune System Diseases
Immune System Diseases
0.300 Biomarker CTD_human Arginine deficiency causes runting in the suckling period by selectively activating the stress kinase GCN2. 21239484

2011

Entrez Id: 440275
Gene Symbol: EIF2AK4
EIF2AK4
CUI: C0021053
Disease: Immune System Diseases
Immune System Diseases
0.300 Biomarker CTD_human Arginine deficiency causes runting in the suckling period by selectively activating the stress kinase GCN2. 21239484

2011

Entrez Id: 1269
Gene Symbol: CNR2
CNR2
CUI: C0021053
Disease: Immune System Diseases
Immune System Diseases
0.300 Biomarker CTD_human Formation of B and T cell subsets require the cannabinoid receptor CB2. 16924491

2006

Entrez Id: 5443
Gene Symbol: POMC
POMC
CUI: C0021053
Disease: Immune System Diseases
Immune System Diseases
0.300 Biomarker CTD_human [Lethal side effects from ACTH-therapy in infantile spasm (author's transl)]. 6107850

1980

Entrez Id: 26191
Gene Symbol: PTPN22
PTPN22
CUI: C0021053
Disease: Immune System Diseases
Immune System Diseases
0.120 Biomarker BEFREE Among the many genes that increase the risk of autoimmune conditions, the risk allele encoding the W620 variant of protein tyrosine phosphatase N22 (PTPN22) is shared between multiple rheumatic diseases, suggesting that it plays a fundamental role in the development of immune dysfunction. 30507064

2019

Entrez Id: 26191
Gene Symbol: PTPN22
PTPN22
CUI: C0021053
Disease: Immune System Diseases
Immune System Diseases
0.120 GeneticVariation GWASCAT Risk for myasthenia gravis maps to a (151) Pro→Ala change in TNIP1 and to human leukocyte antigen-B*08. 23055271

2012

Entrez Id: 26191
Gene Symbol: PTPN22
PTPN22
CUI: C0021053
Disease: Immune System Diseases
Immune System Diseases
0.120 GeneticVariation GWASDB Meta-analysis of genome-wide association studies in celiac disease and rheumatoid arthritis identifies fourteen non-HLA shared loci. 21383967

2011

Entrez Id: 958
Gene Symbol: CD40
CD40
CUI: C0021053
Disease: Immune System Diseases
Immune System Diseases
0.120 GeneticVariation GWASDB Meta-analysis of genome-wide association studies in celiac disease and rheumatoid arthritis identifies fourteen non-HLA shared loci. 21383967

2011

Entrez Id: 958
Gene Symbol: CD40
CD40
CUI: C0021053
Disease: Immune System Diseases
Immune System Diseases
0.120 GeneticVariation BEFREE Polymorphisms of the cluster of differentiation 40 (CD40) gene have recently been identified to be associated with the risk to several immune diseases. 21976957

2011

Entrez Id: 3559
Gene Symbol: IL2RA
IL2RA
CUI: C0021053
Disease: Immune System Diseases
Immune System Diseases
0.120 GeneticVariation GWASDB Meta-analysis of genome-wide association studies in celiac disease and rheumatoid arthritis identifies fourteen non-HLA shared loci. 21383967

2011

Entrez Id: 958
Gene Symbol: CD40
CD40
CUI: C0021053
Disease: Immune System Diseases
Immune System Diseases
0.120 Biomarker BEFREE The CD40-CD40L interaction has also been implicated in immune system disorders. 18977174

2008

Entrez Id: 3559
Gene Symbol: IL2RA
IL2RA
CUI: C0021053
Disease: Immune System Diseases
Immune System Diseases
0.120 Biomarker BEFREE CD4+CD25+ T regulatory cells (Tregs) play an important role in regulating immune responses, and in influencing human immune diseases such as HIV infection. 17688698

2007

Entrez Id: 3559
Gene Symbol: IL2RA
IL2RA
CUI: C0021053
Disease: Immune System Diseases
Immune System Diseases
0.120 Biomarker BEFREE Confirmation of the roles of CTLA4 and PTPN22 as general immune function modulators with a nonlinear dose-response effect on autoimmunity, and confirmation of the role of IL2RA, which may act via a regulatory T cell subset on immune disease risk. 17989522

2007

Entrez Id: 26191
Gene Symbol: PTPN22
PTPN22
CUI: C0021053
Disease: Immune System Diseases
Immune System Diseases
0.120 Biomarker BEFREE Confirmation of the roles of CTLA4 and PTPN22 as general immune function modulators with a nonlinear dose-response effect on autoimmunity, and confirmation of the role of IL2RA, which may act via a regulatory T cell subset on immune disease risk. 17989522

2007

Entrez Id: 10318
Gene Symbol: TNIP1
TNIP1
CUI: C0021053
Disease: Immune System Diseases
Immune System Diseases
0.110 Biomarker BEFREE Although TNIP1 and the TNF-α/NF-κB axis play key roles in immune diseases and inflammatory responses, their relationship and role in glioma remain unknown. 31691497

2020

Entrez Id: 1235
Gene Symbol: CCR6
CCR6
CUI: C0021053
Disease: Immune System Diseases
Immune System Diseases
0.110 GeneticVariation BEFREE Although several genetic associations have been identified between CCR6 polymorphisms and immune system disorders (e.g., rheumatoid arthritis and Crohn's disease), the pharmacological effects of naturally occurring missense mutations in this receptor have yet to be characterized. 27789680

2017

Entrez Id: 10318
Gene Symbol: TNIP1
TNIP1
CUI: C0021053
Disease: Immune System Diseases
Immune System Diseases
0.110 GeneticVariation GWASCAT Risk for myasthenia gravis maps to a (151) Pro→Ala change in TNIP1 and to human leukocyte antigen-B*08. 23055271

2012

Entrez Id: 1232
Gene Symbol: CCR3
CCR3
CUI: C0021053
Disease: Immune System Diseases
Immune System Diseases
0.110 GeneticVariation GWASDB Meta-analysis of genome-wide association studies in celiac disease and rheumatoid arthritis identifies fourteen non-HLA shared loci. 21383967

2011

Entrez Id: 29851
Gene Symbol: ICOS
ICOS
CUI: C0021053
Disease: Immune System Diseases
Immune System Diseases
0.110 GeneticVariation GWASDB Meta-analysis of genome-wide association studies in celiac disease and rheumatoid arthritis identifies fourteen non-HLA shared loci. 21383967

2011

Entrez Id: 1235
Gene Symbol: CCR6
CCR6
CUI: C0021053
Disease: Immune System Diseases
Immune System Diseases
0.110 GeneticVariation GWASDB Meta-analysis of genome-wide association studies in celiac disease and rheumatoid arthritis identifies fourteen non-HLA shared loci. 21383967

2011

Entrez Id: 29851
Gene Symbol: ICOS
ICOS
CUI: C0021053
Disease: Immune System Diseases
Immune System Diseases
0.110 GeneticVariation BEFREE Recent investigations show that the CTLA4, CD28, and ICOS genes are located on chromosome 2q33 and their polymorphisms confer susceptibility to infectious and immune diseases through deregulation of T-cell stimulation. 16849765

2006

Entrez Id: 1232
Gene Symbol: CCR3
CCR3
CUI: C0021053
Disease: Immune System Diseases
Immune System Diseases
0.110 GeneticVariation BEFREE Further study will be of interest to test whether CCR3-C218S variation or any of the CCR4 variations has a significant role in rendering susceptibility to immunological diseases or resistance to HIV infection. 11196669

1999