CD3E, CD3e molecule, 916

N. diseases: 73; N. variants: 4
Disease: IMMUNODEFICIENCY 18 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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