ITPA, inosine triphosphatase, 3704

N. diseases: 58; N. variants: 6
Source: BEFREE ×
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 0.710 strong 1.000 1 2009 2019
CUI: C0002878
Disease: Anemia, Hemolytic
Anemia, Hemolytic 		disease Hemic and Lymphatic Diseases Disease or Syndrome 103 24 0.400 None 0.938 16 2 2010 2018
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		phenotype Hemic and Lymphatic Diseases Disease or Syndrome 376 69 0.340 None 0.800 4 2008 2016
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 103 3 0.310 None 1.000 1 2002 2019
CUI: C0002871
Disease: Anemia
Anemia 		disease Hemic and Lymphatic Diseases Disease or Syndrome 573 79 0.200 None 0.981 54 2 2010 2020
CUI: C0524910
Disease: Hepatitis C, Chronic
Hepatitis C, Chronic 		disease Digestive System Diseases; Infections Disease or Syndrome 404 61 0.200 None 1.000 20 1 2010 2020
CUI: C0085584
Disease: Encephalopathies
Encephalopathies 		group Nervous System Diseases Disease or Syndrome 334 64 0.120 None 1.000 2 2015 2016
CUI: C0019196
Disease: Hepatitis C
Hepatitis C 		disease Digestive System Diseases; Infections Disease or Syndrome 1736 316 0.100 None 0.971 35 2 1999 2018
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 1289 211 0.100 None 1.000 13 3 2009 2019
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases 		group Digestive System Diseases Disease or Syndrome 1437 277 0.100 None 1.000 13 1 2004 2018
CUI: C0023452
Disease: Childhood Acute Lymphoblastic Leukemia
Childhood Acute Lymphoblastic Leukemia 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 1086 259 0.100 None 1.000 10 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 776 54 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 369 146 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 1075 63 0.030 None 0.667 3 1 2012 2017
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: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		disease Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome 1686 635 0.030 None 1.000 3 1 2009 2012
CUI: C1861453
Disease: Pseudohyperkalemia Cardiff
Pseudohyperkalemia Cardiff 		disease Nutritional and Metabolic Diseases Disease or Syndrome 218 55 0.030 None 1.000 3 3 2012 2019
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		disease Digestive System Diseases Disease or Syndrome 1180 456 0.030 None 1.000 3 2006 2012
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 133 33 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: C0015967
Disease: Fever
Fever 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 811 56 0.020 None 1.000 2 2012 2017
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: C0019693
Disease: HIV Infections
HIV Infections 		group Infections; Immune System Diseases Disease or Syndrome 721 47 0.020 None 1.000 2 2012 2018