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.
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: C0023530
Disease: Leukopenia
Leukopenia
disease Hemic and Lymphatic Diseases Disease or Syndrome 440 153 0.400 None 0.955 44 2 1987 2020
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
group Neoplasms Neoplastic Process 8621 1641 0.400 None 0.833 12 2000 2018
CUI: C0027947
Disease: Neutropenia
Neutropenia
disease Hemic and Lymphatic Diseases Disease or Syndrome 389 97 0.350 None 1.000 5 2006 2020
HEARING LOSS, CISPLATIN-INDUCED, SUSCEPTIBILITY TO
disease Finding 3 0.300 None 1.000 1 2009 2009
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
Precursor Cell Lymphoblastic Leukemia Lymphoma
disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 879 168 0.200 None 1.000 27 2 1987 2019
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: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia
disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 1293 222 0.100 None 0.982 55 4 1987 2020
Childhood Acute Lymphoblastic Leukemia
disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 1096 261 0.100 None 0.927 41 4 1998 2020
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: 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: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
group Neoplasms Neoplastic Process 8221 1374 0.100 None 0.900 10 2000 2018
Abnormality of metabolism/homeostasis
phenotype Finding 171 5 0.100 None 0
Abnormality of blood and blood-forming tissues
disease Finding 23 1 0.100 None 0
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
group Immune System Diseases Disease or Syndrome 1758 428 0.090 None 1.000 9 2009 2019
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
disease Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome 1883 1172 0.070 None 1.000 7 1999 2018
CUI: C0023418
Disease: leukemia
leukemia
disease Neoplasms Neoplastic Process 2111 144 0.070 None 1.000 7 1987 2020
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: 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: C1332977
Disease: Childhood Leukemia
Childhood Leukemia
disease Neoplasms Neoplastic Process 1740 140 0.060 None 1.000 6 1987 2017
CUI: C0030312
Disease: Pancytopenia
Pancytopenia
disease Hemic and Lymphatic Diseases Disease or Syndrome 253 15 0.050 None 0.800 5 1997 2019
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
disease Neoplasms Neoplastic Process 3111 6892 0.050 None 1.000 5 1998 2018
CUI: C0948168
Disease: Bone marrow toxicity
Bone marrow toxicity
disease Disease or Syndrome 13 0.050 None 1.000 5 2006 2015
CUI: C4721555
Disease: Autoimmune hepatitis
Autoimmune hepatitis
disease Digestive System Diseases Disease or Syndrome 190 22 0.040 None 1.000 4 2002 2019