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: 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: 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: C0457506
Disease: Reactive thrombocytosis
Reactive thrombocytosis 		disease Hemic and Lymphatic Diseases Disease or Syndrome 9 1 0.010 None 1.000 1 2012 2012
CUI: C0002889
Disease: Anemia, Microangiopathic
Anemia, Microangiopathic 		disease Hemic and Lymphatic Diseases Disease or Syndrome 13 0.300 None 1.000 1 2010 2010
CUI: C0002879
Disease: Anemia, Hemolytic, Acquired
Anemia, Hemolytic, Acquired 		disease Hemic and Lymphatic Diseases Disease or Syndrome 16 1 0.300 None 1.000 1 2010 2010
CUI: C0268124
Disease: Adenosine deaminase deficiency
Adenosine deaminase deficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases Disease or Syndrome 17 2 0.010 None 1.000 1 1990 1990
CUI: C0221760
Disease: brain cyst
brain cyst 		disease Disease or Syndrome 18 0.010 None 1.000 1 2017 2017
CUI: C0280962
Disease: Bone Marrow Suppression
Bone Marrow Suppression 		disease Hemic and Lymphatic Diseases Disease or Syndrome 19 2 0.010 None 1.000 1 1 2009 2009
CUI: C0235081
Disease: Tremor, Limb
Tremor, Limb 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 20 3 0.100 None 0
CUI: C4021758
Disease: Delayed CNS myelination
Delayed CNS myelination 		disease Anatomical Abnormality 21 4 0.100 None 0
CUI: C1608426
Disease: Compensated cirrhosis
Compensated cirrhosis 		disease Disease or Syndrome 23 2 0.010 None 1.000 1 2015 2015
CUI: C0392607
Disease: Severe combined immunodeficiency due to adenosine deaminase deficiency
Severe combined immunodeficiency due to adenosine deaminase deficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 24 15 0.010 None 1.000 1 1990 1990
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: C0392171
Disease: Influenza-like symptoms
Influenza-like symptoms 		phenotype Sign or Symptom 30 4 0.010 None 1.000 1 1 2008 2008
CUI: C0221021
Disease: Microangiopathic hemolytic anemia
Microangiopathic hemolytic anemia 		disease Hemic and Lymphatic Diseases Disease or Syndrome 31 0.300 None 1.000 1 2010 2010
CUI: C0241703
Disease: High pitched voice
High pitched voice 		phenotype Finding 35 1 0.100 None 0
CUI: C0001824
Disease: Agranulocytosis
Agranulocytosis 		disease Hemic and Lymphatic Diseases Disease or Syndrome 55 8 0.010 None 1.000 1 1 2009 2009
CUI: C0746883
Disease: Febrile Neutropenia
Febrile Neutropenia 		disease Hemic and Lymphatic Diseases Disease or Syndrome 58 14 0.010 None 1.000 1 1 2010 2010
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: C1839630
Disease: Severe muscular hypotonia
Severe muscular hypotonia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 75 9 0.100 None 0
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: C4020732
Disease: Mitochondrial abnormalities
Mitochondrial abnormalities 		disease Anatomical Abnormality 83 20 0.010 None 1.000 1 2013 2013
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: 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