ITPA, inosine triphosphatase, 3704

N. diseases: 77; N. variants: 13
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: C4020732
Disease: Mitochondrial abnormalities
Mitochondrial abnormalities 		disease Anatomical Abnormality 83 20 0.010 None 1.000 1 2013 2013
CUI: C4021758
Disease: Delayed CNS myelination
Delayed CNS myelination 		disease Anatomical Abnormality 21 4 0.100 None 0
CUI: C0025958
Disease: Microcephaly
Microcephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 1064 27 0.100 None 0
CUI: C0002871
Disease: Anemia
Anemia 		disease Hemic and Lymphatic Diseases Disease or Syndrome 847 94 0.200 None 0.981 54 2 2010 2020
CUI: C0019196
Disease: Hepatitis C
Hepatitis C 		disease Digestive System Diseases; Infections Disease or Syndrome 1768 347 0.100 None 0.971 35 2 1999 2018
CUI: C0524910
Disease: Hepatitis C, Chronic
Hepatitis C, Chronic 		disease Digestive System Diseases; Infections Disease or Syndrome 430 80 0.200 None 1.000 20 3 2010 2020
CUI: C0002878
Disease: Anemia, Hemolytic
Anemia, Hemolytic 		disease Hemic and Lymphatic Diseases Disease or Syndrome 154 31 0.400 None 0.938 16 2 2010 2018
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases 		group Digestive System Diseases Disease or Syndrome 1577 605 0.100 None 1.000 14 1 2004 2018
CUI: C0023530
Disease: Leukopenia
Leukopenia 		disease Hemic and Lymphatic Diseases Disease or Syndrome 440 153 0.050 None 0.800 5 1 2006 2018
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		phenotype Hemic and Lymphatic Diseases Disease or Syndrome 592 110 0.340 None 0.800 5 2008 2016
CUI: C4225256
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 35
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 35 		disease Disease or Syndrome 1 3 0.710 strong 1.000 4 3 2009 2019
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		disease Digestive System Diseases Disease or Syndrome 1382 1147 0.030 None 1.000 3 2006 2012
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		disease Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome 1883 1172 0.030 None 1.000 3 1 2009 2012
CUI: C0239946
Disease: Fibrosis, Liver
Fibrosis, Liver 		disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome 1179 64 0.030 None 0.667 3 1 2012 2017
CUI: C0342800
Disease: Inosine Triphosphatase Deficiency
Inosine Triphosphatase Deficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 1 4 0.700 strong 1.000 3 4 2002 2016
CUI: C1336820
Disease: Treatment-Induced Anemia
Treatment-Induced Anemia 		disease Hemic and Lymphatic Diseases Disease or Syndrome 5 0.030 None 1.000 3 2010 2015
CUI: C1861453
Disease: Pseudohyperkalemia Cardiff
Pseudohyperkalemia Cardiff 		disease Nutritional and Metabolic Diseases Disease or Syndrome 218 60 0.030 None 1.000 3 3 2012 2019
CUI: C0019693
Disease: HIV Infections
HIV Infections 		group Infections; Immune System Diseases Disease or Syndrome 807 142 0.020 None 1.000 2 2012 2018
CUI: C0027947
Disease: Neutropenia
Neutropenia 		disease Hemic and Lymphatic Diseases Disease or Syndrome 389 97 0.020 None 1.000 2 2009 2018
CUI: C0085584
Disease: Encephalopathies
Encephalopathies 		group Nervous System Diseases Disease or Syndrome 457 64 0.120 None 1.000 2 2015 2016
CUI: C0238644
Disease: Anemia, severe
Anemia, severe 		disease Hemic and Lymphatic Diseases Disease or Syndrome 65 6 0.020 None 1.000 2 1 2015 2019
CUI: C0276289
Disease: Zika Virus Infection
Zika Virus Infection 		disease Infections Disease or Syndrome 192 1 0.020 None 1.000 2 2019 2019
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		disease Nervous System Diseases Disease or Syndrome 187 126 0.020 None 1.000 2 2019 2019
CUI: C3854222
Disease: Human immunodeficiency virus (HIV) II infection category B1
Human immunodeficiency virus (HIV) II infection category B1 		disease Disease or Syndrome 985 56 0.020 None 1.000 2 2012 2012
CUI: C0001824
Disease: Agranulocytosis
Agranulocytosis 		disease Hemic and Lymphatic Diseases Disease or Syndrome 55 8 0.010 None 1.000 1 1 2009 2009