Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
|
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 | ||||
|
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 | ||||
|
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 | ||||
|
0.620 | Biomarker | disease | CLINGEN | Severe combined immunodeficiency caused by deficiency in either the delta or the epsilon subunit of CD3. | 15546002 | 2004 | ||||
|
0.620 | Biomarker | disease | CTD_human | Severe combined immunodeficiency caused by deficiency in either the delta or the epsilon subunit of CD3. | 15546002 | 2004 | ||||
|
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 | ||||
|
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 | ||||
|
0.620 | Biomarker | disease | CLINGEN | Independent mutations of the human CD3-epsilon gene resulting in a T cell receptor/CD3 complex immunodeficiency. | 8490660 | 1993 | ||||
|
0.620 | Biomarker | disease | CLINGEN | Structural analysis of low TCR-CD3 complex expression in T cells of an immunodeficient patient. | 1370449 | 1992 | ||||
|
0.620 | Biomarker | disease | CLINGEN | Pairwise, cooperative and inhibitory interactions describe the assembly and probable structure of the T-cell antigen receptor. | 1828760 | 1991 |