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.
CUI: C4280772
Disease: Abnormal serum interleukin level
Abnormal serum interleukin level 		phenotype Finding 6 0.100 None 0
CUI: C1834752
Disease: MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO (finding)
MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO (finding) 		disease Finding 10 3 0.300 None 0
CUI: C1328587
Disease: Panhypogammaglobulinemia
Panhypogammaglobulinemia 		phenotype Finding 20 2 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: C0553980
Disease: Endomyocardial Fibrosis
Endomyocardial Fibrosis 		phenotype Cardiovascular Diseases Pathologic Function 20 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: C0475713
Disease: Perinatal pulmonary hemorrhage
Perinatal pulmonary hemorrhage 		phenotype Pathologic Function 5 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: C0743360
Disease: Recurrent ear infections
Recurrent ear infections 		group Finding 11 1 0.100 None 0
CUI: C0151701
Disease: Pulmonary hemorrhage
Pulmonary hemorrhage 		phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Hemic and Lymphatic Diseases Pathologic Function 5 0.100 None 0
CUI: C0080274
Disease: Urinary Retention
Urinary Retention 		phenotype Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Finding 17 4 0.100 None 0
CUI: C1847383
Disease: Absence of lymph node germinal center
Absence of lymph node germinal center 		phenotype Finding 4 0.100 None 0
CUI: C1848701
Disease: Elevated hepatic transaminase
Elevated hepatic transaminase 		phenotype Finding 212 9 0.100 None 0
CUI: C1867873
Disease: Failure to thrive in infancy
Failure to thrive in infancy 		phenotype Finding 97 12 0.100 None 0
CUI: C4072913
Disease: Decreased proportion of memory B cells
Decreased proportion of memory B cells 		phenotype Finding 1 0.100 None 0
CUI: C4072899
Disease: Abnormal serum interferon-gamma level
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
CUI: C3806482
Disease: Recurrent respiratory infections
Recurrent respiratory infections 		phenotype Infections; Respiratory Tract Diseases Finding 318 7 0.100 None 0
CUI: C2936476
Disease: Chronic Liver Failure
Chronic Liver Failure 		disease Digestive System Diseases Disease or Syndrome 25 1 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: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		phenotype Hemic and Lymphatic Diseases Disease or Syndrome 592 110 0.100 None 0