TPMT, thiopurine S-methyltransferase, 7172

N. diseases: 83; N. variants: 5
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: C0751606
Disease: Adult Acute Lymphocytic Leukemia
Adult Acute Lymphocytic Leukemia 		disease Neoplastic Process 860 154 0.100 None 0.964 28 4 1998 2020
CUI: C0948168
Disease: Bone marrow toxicity
Bone marrow toxicity 		disease Disease or Syndrome 13 0.050 None 1.000 5 2006 2015
CUI: C4048329
Disease: Immunosuppression
Immunosuppression 		disease Disease or Syndrome 632 9 0.020 None 1.000 2 1995 2005
CUI: C0392171
Disease: Influenza-like symptoms
Influenza-like symptoms 		phenotype Sign or Symptom 30 4 0.010 None < 0.001 1 2015 2015
CUI: C2750088
Disease: HEARING LOSS, CISPLATIN-INDUCED, SUSCEPTIBILITY TO
HEARING LOSS, CISPLATIN-INDUCED, SUSCEPTIBILITY TO 		disease Finding 3 0.300 None 1.000 1 2009 2009
CUI: C4476767
Disease: Diffuse alveolar hemorrhage
Diffuse alveolar hemorrhage 		disease Disease or Syndrome 21 0.010 None 1.000 1 2007 2007
CUI: C0850715
Disease: Abnormality of blood and blood-forming tissues
Abnormality of blood and blood-forming tissues 		disease Finding 23 1 0.100 None 0
CUI: C4021768
Disease: Abnormality of metabolism/homeostasis
Abnormality of metabolism/homeostasis 		phenotype Finding 171 5 0.100 None 0
CUI: C0042384
Disease: Vasculitis
Vasculitis 		disease Cardiovascular Diseases Disease or Syndrome 294 24 0.010 None < 0.001 1 2018 2018
CUI: C0948441
Disease: Venoocclusive disease
Venoocclusive disease 		group Cardiovascular Diseases Disease or Syndrome 34 4 0.010 None 1.000 1 2006 2006
CUI: C1832661
Disease: ANOPHTHALMIA AND PULMONARY HYPOPLASIA
ANOPHTHALMIA AND PULMONARY HYPOPLASIA 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Respiratory Tract Diseases Disease or Syndrome 1410 80 0.010 None 1.000 1 2018 2018
CUI: C3161174
Disease: Hemoglobin H Disease
Hemoglobin H Disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 29 0.010 None 1.000 1 2017 2017
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms Neoplastic Process 270 139 0.020 None 1.000 2 2000 2016
CUI: C0342801
Disease: Thiopurine S methyltranferase deficiency
Thiopurine S methyltranferase deficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Chemically-Induced Disorders Disease or Syndrome 3 4 0.800 limited 1.000 17 3 2000 2019
CUI: C2931223
Disease: 6 alpha mercaptopurine sensitivity
6 alpha mercaptopurine sensitivity 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Chemically-Induced Disorders Disease or Syndrome 1 0.300 None 0
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases 		group Digestive System Diseases Disease or Syndrome 1577 605 0.100 None 1.000 56 3 1999 2019
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		disease Digestive System Diseases Disease or Syndrome 1382 1147 0.100 None 1.000 12 1 2000 2017
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		disease Digestive System Diseases Disease or Syndrome 1458 827 0.060 None 1.000 6 1 2000 2019
CUI: C4721555
Disease: Autoimmune hepatitis
Autoimmune hepatitis 		disease Digestive System Diseases Disease or Syndrome 190 22 0.040 None 1.000 4 2002 2019
CUI: C0022104
Disease: Irritable Bowel Syndrome
Irritable Bowel Syndrome 		disease Digestive System Diseases Disease or Syndrome 429 52 0.030 None 1.000 3 2011 2019
CUI: C0030305
Disease: Pancreatitis
Pancreatitis 		disease Digestive System Diseases Disease or Syndrome 502 80 0.020 None 0.500 2 2010 2015
CUI: C0023895
Disease: Liver diseases
Liver diseases 		group Digestive System Diseases Disease or Syndrome 1019 100 0.010 None 1.000 1 2007 2007
CUI: C2697368
Disease: Gastrointestinal irritation
Gastrointestinal irritation 		phenotype Digestive System Diseases Disease or Syndrome 3 0.010 None < 0.001 1 1995 1995
CUI: C0019156
Disease: Hepatic Veno-Occlusive Disease
Hepatic Veno-Occlusive Disease 		disease Digestive System Diseases; Cardiovascular Diseases Disease or Syndrome 37 2 0.020 None 0.500 2 2006 2014
CUI: C0241910
Disease: Autoimmune Chronic Hepatitis
Autoimmune Chronic Hepatitis 		disease Digestive System Diseases; Immune System Diseases Disease or Syndrome 213 23 0.040 None 1.000 4 2002 2019