CD247, CD247 molecule, 919

N. diseases: 140; N. variants: 25
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: C1857798
Disease: Immunodeficiency due to Defect in CD3-Zeta
Immunodeficiency due to Defect in CD3-Zeta 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases Disease or Syndrome 1 6 0.600 moderate 1.000 1 6 2015 2015
CUI: C1851112
Disease: Jones syndrome
Jones syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 3 0.010 None 1.000 1 2014 2014
CUI: C4025684
Disease: Recurrent abscess formation
Recurrent abscess formation 		phenotype Finding 6 0.100 None 0
CUI: C1832323
Disease: Failure to thrive secondary to recurrent infections
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
CUI: C4477053
Disease: Decreased proportion of CD3-positive T cells
Decreased proportion of CD3-positive T cells 		phenotype Immune System Diseases; Hemic and Lymphatic Diseases Finding 9 0.100 None 0
CUI: C1860128
Disease: Recurrent candida infections
Recurrent candida infections 		phenotype Finding 12 1 0.100 None 0
CUI: C4531166
Disease: Decreased lymphocyte proliferation in response to mitogen
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: C0022073
Disease: Iridocyclitis
Iridocyclitis 		disease Eye Diseases Disease or Syndrome 16 0.100 None 0
CUI: C2931322
Disease: T-Lymphocytopenia
T-Lymphocytopenia 		disease Immune System Diseases; Hemic and Lymphatic Diseases Finding 17 0.100 None 0
CUI: C3532222
Disease: Inflammatory cardiomyopathy
Inflammatory cardiomyopathy 		disease Cardiovascular Diseases Disease or Syndrome 25 0.010 None 1.000 1 2011 2011
CUI: C2931171
Disease: Juvenile pauciarticular chronic arthritis
Juvenile pauciarticular chronic arthritis 		disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases Disease or Syndrome 26 31 0.300 None 1.000 1 2012 2012
CUI: C0151669
Disease: Increased antibody level in blood
Increased antibody level in blood 		phenotype Finding 27 0.100 None 0
CUI: C4023452
Disease: Elevated C-reactive protein level
Elevated C-reactive protein level 		phenotype Finding 28 2 0.100 None 0
CUI: C0152031
Disease: Joint swelling
Joint swelling 		phenotype Pathological Conditions, Signs and Symptoms Finding 33 0.100 None 0
CUI: C0151480
Disease: Anti-nuclear factor positive
Anti-nuclear factor positive 		phenotype Skin and Connective Tissue Diseases Laboratory or Test Result 35 3 0.100 None 0
CUI: C0151632
Disease: ESR raised
ESR raised 		phenotype Finding 36 0.100 None 0
CUI: C0741260
Disease: Adult onset asthma
Adult onset asthma 		disease Disease or Syndrome 48 67 0.100 None 1.000 2 2 2019 2019
CUI: C3496337
Disease: Idiopathic Nephrotic Syndrome
Idiopathic Nephrotic Syndrome 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 51 72 0.010 None 1.000 1 2008 2008
CUI: C0694550
Disease: Recurrent pneumonia
Recurrent pneumonia 		disease Infections; Respiratory Tract Diseases Finding 62 11 0.100 None 0
CUI: C0271907
Disease: Acquired aplastic anemia
Acquired aplastic anemia 		disease Hemic and Lymphatic Diseases Disease or Syndrome 64 12 0.010 None 1.000 1 2007 2007
CUI: C0011606
Disease: Exfoliative dermatitis
Exfoliative dermatitis 		disease Skin and Connective Tissue Diseases Disease or Syndrome 64 2 0.100 None 0