SP110, SP110 nuclear body protein, 3431

N. diseases: 65; N. variants: 27
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.
Hepatic venoocclusive disease with immunodeficiency
disease Digestive System Diseases; Immune System Diseases; Cardiovascular Diseases Disease or Syndrome 2 8 0.720 None 0.750 4 8 2006 2017
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6941 3417 0.300 None 0 1
MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO (finding)
disease Finding 10 3 0.300 None 0
CUI: C0021051
Disease: Immunologic Deficiency Syndromes
Immunologic Deficiency Syndromes
group Immune System Diseases Disease or Syndrome 973 31 0.120 None 1.000 2 2012 2013
CUI: C0041296
Disease: Tuberculosis
Tuberculosis
disease Infections Disease or Syndrome 1256 328 0.100 None 0.857 21 8 2005 2019
CUI: C0855095
Disease: Small Lymphocytic Lymphoma
Small Lymphocytic Lymphoma
disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 120 122 0.100 None 1.000 1 2 2016 2016
CUI: C0206698
Disease: Cholangiocarcinoma
Cholangiocarcinoma
disease Neoplasms Neoplastic Process 877 43 0.100 None 1.000 1 1 2018 2018
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
Chronic Lymphocytic Leukemia
disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 1447 291 0.100 None 1.000 1 2 2016 2016
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing
disease Digestive System Diseases Disease or Syndrome 188 276 0.100 None 1.000 1 1 2018 2018
Absence of lymph node germinal center
phenotype Finding 4 0.100 None 0
CUI: C0221166
Disease: Paraparesis
Paraparesis
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 31 5 0.100 None 0
CUI: C0475713
Disease: Perinatal pulmonary hemorrhage
Perinatal pulmonary hemorrhage
phenotype Pathologic Function 5 0.100 None 0
CUI: C1328587
Disease: Panhypogammaglobulinemia
Panhypogammaglobulinemia
phenotype Finding 20 2 0.100 None 0
CUI: C0494475
Disease: Tonic - clonic seizures
Tonic - clonic seizures
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 300 32 0.100 None 0
CUI: C0747651
Disease: Recurrent aspiration pneumonia
Recurrent aspiration pneumonia
disease Infections; Respiratory Tract Diseases Disease or Syndrome 11 0.100 None 0
CUI: C0743360
Disease: Recurrent ear infections
Recurrent ear infections
group Finding 11 1 0.100 None 0
CUI: C0553980
Disease: Endomyocardial Fibrosis
Endomyocardial Fibrosis
phenotype Cardiovascular Diseases Pathologic Function 20 0.100 None 0
CUI: C1848701
Disease: Elevated hepatic transaminase
Elevated hepatic transaminase
phenotype Finding 212 9 0.100 None 0
Decreased proportion of memory B cells
phenotype Finding 1 0.100 None 0
Abnormal serum interferon-gamma level
phenotype Finding 2 0.100 None 0
CUI: C4025684
Disease: Recurrent abscess formation
Recurrent abscess formation
phenotype Finding 6 0.100 None 0
CUI: C4025681
Disease: Recurrent enteroviral infections
Recurrent enteroviral infections
phenotype Finding 5 0.100 None 0
CUI: C4021780
Disease: Abnormality of the liver
Abnormality of the liver
phenotype Finding 75 8 0.100 None 0
CUI: C4021036
Disease: Abnormal natural killer cell count
Abnormal natural killer cell count
phenotype Finding 3 0.100 None 0
CUI: C3808828
Disease: Recurrent gastroenteritis
Recurrent gastroenteritis
phenotype Finding 5 0.100 None 0