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: 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: 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: C2347126
Disease: Microscopic Polyarteritis
Microscopic Polyarteritis 		disease Immune System Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 77 7 0.010 None 1.000 1 2018 2018
CUI: C0017178
Disease: Gastrointestinal Diseases
Gastrointestinal Diseases 		group Digestive System Diseases Disease or Syndrome 144 14 0.010 None 1.000 1 2018 2018
CUI: C0021053
Disease: Immune System Diseases
Immune System Diseases 		group Immune System Diseases Disease or Syndrome 451 116 0.010 None 1.000 1 2018 2018
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 1293 222 0.100 None 1.000 13 3 2009 2019
CUI: C0023452
Disease: Childhood Acute Lymphoblastic Leukemia
Childhood Acute Lymphoblastic Leukemia 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 1096 261 0.100 None 1.000 10 3 2009 2019
CUI: C0751606
Disease: Adult Acute Lymphocytic Leukemia
Adult Acute Lymphocytic Leukemia 		disease Neoplastic Process 860 154 0.080 None 1.000 8 3 2009 2019
CUI: C1961102
Disease: Precursor Cell Lymphoblastic Leukemia Lymphoma
Precursor Cell Lymphoblastic Leukemia Lymphoma 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 879 168 0.080 None 1.000 8 2009 2019
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: C0025521
Disease: Inborn Errors of Metabolism
Inborn Errors of Metabolism 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome; Congenital Abnormality 119 3 0.310 None 1.000 3 2002 2019
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: 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: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		disease Nervous System Diseases Disease or Syndrome 187 126 0.020 None 1.000 2 2019 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: C0024530
Disease: Malaria
Malaria 		disease Infections Disease or Syndrome 685 148 0.010 None 1.000 1 2019 2019
CUI: C0041671
Disease: Attention Deficit Disorder
Attention Deficit Disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 123 7 0.010 None 1.000 1 2019 2019
CUI: C0004269
Disease: Child attention deficit disorder
Child attention deficit disorder 		disease Mental Disorders Disease or Syndrome 26 0.010 None 1.000 1 2019 2019
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		group Cardiovascular Diseases Disease or Syndrome 512 509 0.010 None 1.000 1 2019 2019
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		group Cardiovascular Diseases Disease or Syndrome 1756 711 0.010 None < 0.001 1 2019 2019
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 842 420 0.010 None 1.000 1 2019 2019
CUI: C0282687
Disease: Hemorrhagic Fever, Ebola
Hemorrhagic Fever, Ebola 		disease Infections Disease or Syndrome 164 1 0.010 None 1.000 1 2019 2019