TPMT, thiopurine S-methyltransferase, 7172

N. diseases: 83; N. variants: 5
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.090 Biomarker group BEFREE The aims of this study were as follows: (a) to carry out a phenotypic study of RBC IMPDH activity in adults and children treated or not with azathioprine (AZA) for autoimmune diseases, and (b) to investigate the relationship between the activities of IMPDH, thiopurine metabolites, inosine triphosphatase (ITPA) and thiopurine methyltransferase (TPMT). 30451390 2019
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.090 GeneticVariation group BEFREE This study aimed to determine the frequency of the most common mutant TPMT alleles in Mexican patients with SLE (a prototype autoimmune disease) and RA (one of the most common autoimmune diseases in Mexico). 29264794 2018
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.090 Biomarker group BEFREE TPMT status and its effects on treatment outcome have been studied extensively in ALL and autoimmune disorders, but few data is available on TPMT in AML. 30214603 2018
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.090 GeneticVariation group BEFREE Thiopurine S-methyltransferase polymorphisms in acute lymphoblastic leukemia, inflammatory bowel disease and autoimmune disorders: influence on treatment response. 28507448 2017
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.090 GeneticVariation group BEFREE Frequency of thiopurine methyltransferase mutation in patients of Mediterranean area with inflammatory bowel disease and autoimmune disorders. 27665263 2016
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.090 GeneticVariation group BEFREE Studies that compared TPMT polymorphisms with-ADRs and without-ADRs in patients with autoimmune diseases were included. 26633017 2015
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.090 Biomarker group BEFREE Thiopurine S-methyltransferase (TPMT) is responsible for inactivation of thiopurine drugs which are commonly used in leukemia, organ transplantation and autoimmune diseases. 23398787 2013
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.090 GeneticVariation group BEFREE Thiopurine S-methyltransferase (TPMT) polymorphisms affect the enzyme's activity and are predictive for the efficacy and toxicity of thiopurine treatment of acute lymphoblastic leukemia (ALL), autoimmune diseases and organ transplants. 23377985 2013
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.090 GeneticVariation group BEFREE Genetic polymorphisms of thiopurine S-methyltransferase in a cohort of patients with systemic autoimmune diseases. 19473575 2009