CD3E, CD3e molecule, 916

N. diseases: 73; N. variants: 4
Source: ALL
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Immunodeficiency due to Defect in CD3-Epsilon
disease Immune System Diseases Disease or Syndrome 1 0.300 strong 0
IMMUNODEFICIENCY 18, SEVERE COMBINED IMMUNODEFICIENCY VARIANT
disease Disease or Syndrome 1 1 0.100 None 0 1
CUI: C3810129
Disease: IMMUNODEFICIENCY 18, SCID VARIANT
IMMUNODEFICIENCY 18, SCID VARIANT
disease Disease or Syndrome 1 0.300 strong 0
CUI: C3810127
Disease: IMMUNODEFICIENCY 18
IMMUNODEFICIENCY 18
disease Disease or Syndrome 2 3 0.600 strong 1.000 3 3 1993 2004
CUI: C1845609
Disease: Lymphoid depletion
Lymphoid depletion
disease Disease or Syndrome 4 0.010 None 1.000 1 1991 1991
CUI: C3808828
Disease: Recurrent gastroenteritis
Recurrent gastroenteritis
phenotype Finding 5 0.100 None 0
CUI: C4025684
Disease: Recurrent abscess formation
Recurrent abscess formation
phenotype Finding 6 0.100 None 0
Failure to thrive secondary to recurrent infections
phenotype Finding 7 0.100 None 0
CUI: C4024599
Disease: Chronic oral candidiasis
Chronic oral candidiasis
disease Infections; Skin and Connective Tissue Diseases Disease or Syndrome 8 2 0.100 None 0
Decreased proportion of CD3-positive T cells
phenotype Immune System Diseases; Hemic and Lymphatic Diseases Finding 9 0.100 None 0
CUI: C0024307
Disease: Lymphomatoid Granulomatosis
Lymphomatoid Granulomatosis
disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 11 1 0.010 None < 0.001 1 1995 1995
CUI: C1860128
Disease: Recurrent candida infections
Recurrent candida infections
phenotype Finding 12 1 0.100 None 0
Decreased lymphocyte proliferation in response to mitogen
phenotype Cell or Molecular Dysfunction 13 0.100 None 0
CUI: C1263762
Disease: Endocervical adenocarcinoma
Endocervical adenocarcinoma
disease Neoplastic Process 14 0.010 None 1.000 1 2019 2019
CUI: C1299237
Disease: Endocervical Carcinoma
Endocervical Carcinoma
disease Neoplastic Process 14 0.010 None 1.000 1 2019 2019
CUI: C0473133
Disease: Protracted diarrhea
Protracted diarrhea
disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 14 0.100 None 0
CUI: C1274233
Disease: T-lymphocyte immunodeficiency
T-lymphocyte immunodeficiency
disease Immune System Diseases Disease or Syndrome 15 2 0.010 None 1.000 1 1995 1995
CUI: C0003257
Disease: Antibody Deficiency Syndrome
Antibody Deficiency Syndrome
disease Immune System Diseases Disease or Syndrome 21 0.300 None 1.000 1 1993 1993
CUI: C0242583
Disease: Bare Lymphocyte Syndrome
Bare Lymphocyte Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases Disease or Syndrome 24 0.300 None 1.000 1 2004 2004
CUI: C0151669
Disease: Increased antibody level in blood
Increased antibody level in blood
phenotype Finding 27 0.100 None 0
CUI: C1955906
Disease: Lymphoma, Extranodal NK-T-Cell
Lymphoma, Extranodal NK-T-Cell
disease Neoplasms Neoplastic Process 33 2 0.010 None 1.000 1 2018 2018
CUI: C2700553
Disease: Omenn Syndrome
Omenn Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases Disease or Syndrome 35 48 0.310 None 1.000 2 2004 2012
CUI: C0035288
Disease: Reticuloendotheliosis, X-linked
Reticuloendotheliosis, X-linked
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases Neoplastic Process 48 1 0.010 None 1.000 1 2007 2007
CUI: C0694550
Disease: Recurrent pneumonia
Recurrent pneumonia
disease Infections; Respiratory Tract Diseases Finding 62 11 0.100 None 0
CUI: C0011606
Disease: Exfoliative dermatitis
Exfoliative dermatitis
disease Skin and Connective Tissue Diseases Disease or Syndrome 64 2 0.100 None 0