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: 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: 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: C2697368
Disease: Gastrointestinal irritation
Gastrointestinal irritation 		phenotype Digestive System Diseases Disease or Syndrome 3 0.010 None < 0.001 1 1995 1995
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: C0280745
Disease: secondary myelodysplastic syndromes
secondary myelodysplastic syndromes 		disease Hemic and Lymphatic Diseases Neoplastic Process 11 0.010 None 1.000 1 2015 2015
CUI: C0948168
Disease: Bone marrow toxicity
Bone marrow toxicity 		disease Disease or Syndrome 13 0.050 None 1.000 5 2006 2015
CUI: C0280962
Disease: Bone Marrow Suppression
Bone Marrow Suppression 		disease Hemic and Lymphatic Diseases Disease or Syndrome 19 2 0.060 None 1.000 6 2003 2019
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: 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: C0392171
Disease: Influenza-like symptoms
Influenza-like symptoms 		phenotype Sign or Symptom 30 4 0.010 None < 0.001 1 2015 2015
CUI: C0948441
Disease: Venoocclusive disease
Venoocclusive disease 		group Cardiovascular Diseases Disease or Syndrome 34 4 0.010 None 1.000 1 2006 2006
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: C0920028
Disease: Leukaemia recurrent
Leukaemia recurrent 		disease Neoplasms Neoplastic Process 50 0.010 None 1.000 1 2014 2014
CUI: C0001824
Disease: Agranulocytosis
Agranulocytosis 		disease Hemic and Lymphatic Diseases Disease or Syndrome 55 8 0.020 None 1.000 2 2000 2009
CUI: C0746883
Disease: Febrile Neutropenia
Febrile Neutropenia 		disease Hemic and Lymphatic Diseases Disease or Syndrome 58 14 0.010 None 1.000 1 2010 2010
CUI: C0042721
Disease: Viral hepatitis
Viral hepatitis 		group Digestive System Diseases; Infections Disease or Syndrome 79 5 0.010 None 1.000 1 2007 2007
CUI: C2717865
Disease: Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis
Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis 		disease Immune System Diseases; Cardiovascular Diseases Disease or Syndrome 86 3 0.020 None 1.000 2 2018 2019
CUI: C0149745
Disease: Oral Ulcer
Oral Ulcer 		disease Stomatognathic Diseases Disease or Syndrome 104 101 0.010 None 1.000 1 2018 2018
CUI: C0041948
Disease: Uremia
Uremia 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 110 2 0.010 None 1.000 1 2001 2001
CUI: C0020507
Disease: Hyperplasia
Hyperplasia 		phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 131 0.010 None 1.000 1 2005 2005
CUI: C0949690
Disease: Spondylarthritis
Spondylarthritis 		disease Musculoskeletal Diseases Disease or Syndrome 158 23 0.010 None 1.000 1 1997 1997
CUI: C0872084
Disease: Sarcopenia
Sarcopenia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 164 10 0.010 None 1.000 1 2019 2019
CUI: C0027873
Disease: Neuromyelitis Optica
Neuromyelitis Optica 		disease Eye Diseases; Immune System Diseases; Nervous System Diseases Disease or Syndrome 171 45 0.010 None 1.000 1 2018 2018
CUI: C4021768
Disease: Abnormality of metabolism/homeostasis
Abnormality of metabolism/homeostasis 		phenotype Finding 171 5 0.100 None 0