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: 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: C0015934
Disease: Fetal Growth Retardation
Fetal Growth Retardation 		phenotype Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 1037 21 0.100 None 0
CUI: C4552810
Disease: Irritability, CTCAE
Irritability, CTCAE 		phenotype Finding 140 0.100 None 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease Mental or Behavioral Dysfunction 1825 553 0.100 None 0
CUI: C4551584
Disease: Brain atrophy
Brain atrophy 		disease Nervous System Diseases Disease or Syndrome 182 46 0.100 None 0
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: 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: C0023530
Disease: Leukopenia
Leukopenia 		disease Hemic and Lymphatic Diseases Disease or Syndrome 440 153 0.050 None 0.800 5 1 2006 2018
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: 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: 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: C0010346
Disease: Crohn Disease
Crohn Disease 		disease Digestive System Diseases Disease or Syndrome 1382 1147 0.030 None 1.000 3 2006 2012
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: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		disease Nervous System Diseases Disease or Syndrome 187 126 0.020 None 1.000 2 2019 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: 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: C0276289
Disease: Zika Virus Infection
Zika Virus Infection 		disease Infections Disease or Syndrome 192 1 0.020 None 1.000 2 2019 2019
CUI: C0015967
Disease: Fever
Fever 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 1021 66 0.020 None 1.000 2 2012 2017
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: C0027947
Disease: Neutropenia
Neutropenia 		disease Hemic and Lymphatic Diseases Disease or Syndrome 389 97 0.020 None 1.000 2 2009 2018
CUI: C3714757
Disease: Juvenile rheumatoid arthritis
Juvenile rheumatoid arthritis 		disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases Disease or Syndrome 183 10 0.010 None 1.000 1 2015 2015
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: 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: C0001824
Disease: Agranulocytosis
Agranulocytosis 		disease Hemic and Lymphatic Diseases Disease or Syndrome 55 8 0.010 None 1.000 1 1 2009 2009
CUI: C1608426
Disease: Compensated cirrhosis
Compensated cirrhosis 		disease Disease or Syndrome 23 2 0.010 None 1.000 1 2015 2015