CD3E, CD3e molecule, 916

N. diseases: 73; N. variants: 4
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0085110
Disease: Severe Combined Immunodeficiency
Severe Combined Immunodeficiency 		0.620 Biomarker disease CLINGEN Successful haploidentical hematopoietic stem cell transplantation in a patient with SCID due to CD3ε deficiency: need for IgG-substitution 6 years later. 24515816 2014
CUI: C0085110
Disease: Severe Combined Immunodeficiency
Severe Combined Immunodeficiency 		0.620 Biomarker disease BEFREE Our data provide important therapeutic proof of concept for future clinical applications of anti-CD3ε mAb treatment in severe combined immunodeficiency forms characterized by poor thymus function and autoimmunity. 22723555 2012
CUI: C0085110
Disease: Severe Combined Immunodeficiency
Severe Combined Immunodeficiency 		0.620 GeneticVariation disease BEFREE Homozygous mutations in CD3D and CD3E genes lead to a complete block in T-cell development and thus to an early-onset severe combined immunodeficiency phenotype. 16264327 2005
CUI: C0085110
Disease: Severe Combined Immunodeficiency
Severe Combined Immunodeficiency 		0.620 Biomarker disease CLINGEN Severe combined immunodeficiency caused by deficiency in either the delta or the epsilon subunit of CD3. 15546002 2004
CUI: C0085110
Disease: Severe Combined Immunodeficiency
Severe Combined Immunodeficiency 		0.620 Biomarker disease CTD_human Severe combined immunodeficiency caused by deficiency in either the delta or the epsilon subunit of CD3. 15546002 2004
CUI: C0085110
Disease: Severe Combined Immunodeficiency
Severe Combined Immunodeficiency 		0.620 Biomarker disease GENOMICS_ENGLAND A block in both early T lymphocyte and natural killer cell development in transgenic mice with high-copy numbers of the human CD3E gene. 7937778 1994
CUI: C0085110
Disease: Severe Combined Immunodeficiency
Severe Combined Immunodeficiency 		0.620 Biomarker disease CLINGEN A block in both early T lymphocyte and natural killer cell development in transgenic mice with high-copy numbers of the human CD3E gene. 7937778 1994
CUI: C0085110
Disease: Severe Combined Immunodeficiency
Severe Combined Immunodeficiency 		0.620 Biomarker disease CLINGEN Independent mutations of the human CD3-epsilon gene resulting in a T cell receptor/CD3 complex immunodeficiency. 8490660 1993
CUI: C0085110
Disease: Severe Combined Immunodeficiency
Severe Combined Immunodeficiency 		0.620 Biomarker disease CLINGEN Structural analysis of low TCR-CD3 complex expression in T cells of an immunodeficient patient. 1370449 1992
CUI: C0085110
Disease: Severe Combined Immunodeficiency
Severe Combined Immunodeficiency 		0.620 Biomarker disease CLINGEN Pairwise, cooperative and inhibitory interactions describe the assembly and probable structure of the T-cell antigen receptor. 1828760 1991
CUI: C3810127
Disease: IMMUNODEFICIENCY 18
IMMUNODEFICIENCY 18 		0.600 GeneticVariation disease CLINVAR Severe combined immunodeficiency caused by deficiency in either the delta or the epsilon subunit of CD3. 15546002 2004
CUI: C3810127
Disease: IMMUNODEFICIENCY 18
IMMUNODEFICIENCY 18 		0.600 Biomarker disease GENOMICS_ENGLAND A block in both early T lymphocyte and natural killer cell development in transgenic mice with high-copy numbers of the human CD3E gene. 7937778 1994
CUI: C3810127
Disease: IMMUNODEFICIENCY 18
IMMUNODEFICIENCY 18 		0.600 GeneticVariation disease CLINVAR Independent mutations of the human CD3-epsilon gene resulting in a T cell receptor/CD3 complex immunodeficiency. 8490660 1993
CUI: C3810127
Disease: IMMUNODEFICIENCY 18
IMMUNODEFICIENCY 18 		0.600 CausalMutation disease CLINVAR
CUI: C3810127
Disease: IMMUNODEFICIENCY 18
IMMUNODEFICIENCY 18 		0.600 Biomarker disease CTD_human
CUI: C0021051
Disease: Immunologic Deficiency Syndromes
Immunologic Deficiency Syndromes 		0.410 Biomarker group BEFREE Identification of the transgenic integration site in immunodeficient tgε26 human CD3ε transgenic mice. 21203507 2010
CUI: C0021051
Disease: Immunologic Deficiency Syndromes
Immunologic Deficiency Syndromes 		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
CUI: C0021051
Disease: Immunologic Deficiency Syndromes
Immunologic Deficiency Syndromes 		0.410 Biomarker group HPO
CUI: C2700553
Disease: Omenn Syndrome
Omenn Syndrome 		0.310 GeneticVariation disease BEFREE Here we show the effect of anti-CD3ε mAb administration in the RAG2(R229Q) mouse model, which closely recapitulates human OS. 22723555 2012
CUI: C2700553
Disease: Omenn Syndrome
Omenn Syndrome 		0.310 Biomarker disease CTD_human Severe combined immunodeficiency caused by deficiency in either the delta or the epsilon subunit of CD3. 15546002 2004
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors 		0.300 Biomarker group CTD_human Hedgehog pathway dysregulation contributes to the pathogenesis of human gastrointestinal stromal tumors via GLI-mediated activation of KIT expression. 27793025 2016
CUI: C3179349
Disease: Gastrointestinal Stromal Sarcoma
Gastrointestinal Stromal Sarcoma 		0.300 Biomarker disease CTD_human Hedgehog pathway dysregulation contributes to the pathogenesis of human gastrointestinal stromal tumors via GLI-mediated activation of KIT expression. 27793025 2016
CUI: C0021368
Disease: Inflammation
Inflammation 		0.300 Biomarker phenotype CTD_human Expression of NLRP3 inflammasome and T cell population markers in adipose tissue are associated with insulin resistance and impaired glucose metabolism in humans. 22325453 2012
CUI: C0242583
Disease: Bare Lymphocyte Syndrome
Bare Lymphocyte Syndrome 		0.300 Biomarker disease CTD_human Severe combined immunodeficiency caused by deficiency in either the delta or the epsilon subunit of CD3. 15546002 2004
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		0.300 Biomarker disease CTD_human From transcriptome to proteome: differentially expressed proteins identified in synovial tissue of patients suffering from rheumatoid arthritis and osteoarthritis by an initial screen with a panel of 791 antibodies. 12833524 2003