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.
CUI: C0085110
Disease: Severe Combined Immunodeficiency
Severe Combined Immunodeficiency
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases Disease or Syndrome 284 46 0.620 definitive 1.000 8 1991 2014
CUI: C3810127
Disease: IMMUNODEFICIENCY 18
IMMUNODEFICIENCY 18
disease Disease or Syndrome 2 3 0.600 strong 1.000 3 3 1993 2004
CUI: C0021051
Disease: Immunologic Deficiency Syndromes
Immunologic Deficiency Syndromes
group Immune System Diseases Disease or Syndrome 973 31 0.410 None 1.000 2 1993 2010
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: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors
group Digestive System Diseases; Neoplasms Neoplastic Process 538 154 0.300 None 1.000 1 2016 2016
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: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases Disease or Syndrome 2723 2387 0.300 None 1.000 1 2003 2003
CUI: C0021368
Disease: Inflammation
Inflammation
phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 467 0.300 None 1.000 1 2012 2012
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: C3179349
Disease: Gastrointestinal Stromal Sarcoma
Gastrointestinal Stromal Sarcoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 74 0.300 None 1.000 1 2016 2016
Immunodeficiency due to Defect in CD3-Epsilon
disease Immune System Diseases Disease or Syndrome 1 0.300 strong 0
CUI: C3810129
Disease: IMMUNODEFICIENCY 18, SCID VARIANT
IMMUNODEFICIENCY 18, SCID VARIANT
disease Disease or Syndrome 1 0.300 strong 0
CUI: C3806482
Disease: Recurrent respiratory infections
Recurrent respiratory infections
phenotype Infections; Respiratory Tract Diseases Finding 318 7 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: C0151669
Disease: Increased antibody level in blood
Increased antibody level in blood
phenotype Finding 27 0.100 None 0
CUI: C4025684
Disease: Recurrent abscess formation
Recurrent abscess formation
phenotype Finding 6 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
CUI: C0029882
Disease: Otitis Media
Otitis Media
disease Otorhinolaryngologic Diseases Disease or Syndrome 175 8 0.100 None 0
CUI: C0473133
Disease: Protracted diarrhea
Protracted diarrhea
disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 14 0.100 None 0
CUI: C0694550
Disease: Recurrent pneumonia
Recurrent pneumonia
disease Infections; Respiratory Tract Diseases Finding 62 11 0.100 None 0
CUI: C0747085
Disease: Recurrent otitis media
Recurrent otitis media
disease Otorhinolaryngologic Diseases Disease or Syndrome 120 11 0.100 None 0
Failure to thrive secondary to recurrent infections
phenotype Finding 7 0.100 None 0
CUI: C1860128
Disease: Recurrent candida infections
Recurrent candida infections
phenotype Finding 12 1 0.100 None 0
CUI: C3808828
Disease: Recurrent gastroenteritis
Recurrent gastroenteritis
phenotype Finding 5 0.100 None 0
CUI: C1861403
Disease: Variable expressivity
Variable expressivity
phenotype Finding 319 0.100 None 0