THPM1
MCID: THP004
MIFTS: 41

Thiopurines, Poor Metabolism of, 1 (THPM1)

Categories: Blood diseases, Bone diseases, Cancer diseases, Genetic diseases, Immune diseases, Metabolic diseases

Aliases & Classifications for Thiopurines, Poor Metabolism of, 1

MalaCards integrated aliases for Thiopurines, Poor Metabolism of, 1:

Name: Thiopurines, Poor Metabolism of, 1 57
Thiopurine S-Methyltransferase Deficiency 57 12 43 36 6 15 39
Tpmt Deficiency 57 12 43
Thiopurine S-Methyltransferase Deficiency; Tpmtd 57
Thiopurine S Methyltranferase Deficiency 70
Thiopurine Methyltransferase Deficiency 43
Poor Metabolism of Thiopurines-1 12
Poor Metabolism of Thiopurines 43
Thpm1 57
Tpmtd 57

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
increased susceptibility to toxic effects of treatment with 6-mercaptopurine (6mp), 6-thioguanine (6tg), and azathioprine (aza)
heterozygotes may also show increased susceptibility to toxic effects of thiopurine treatment


HPO:

31
thiopurines, poor metabolism of, 1:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0080172
OMIM® 57 610460
OMIM Phenotypic Series 57 PS610460
KEGG 36 H00964
MedGen 41 C0342801
SNOMED-CT via HPO 68 191124002 258211005 34093004
UMLS 70 C0342801

Summaries for Thiopurines, Poor Metabolism of, 1

MedlinePlus Genetics : 43 Thiopurine S-methyltransferase (TPMT) deficiency is a condition characterized by significantly reduced activity of an enzyme that helps the body process drugs called thiopurines. These drugs, which include 6-thioguanine, 6-mercaptopurine, and azathioprine, inhibit (suppress) the body's immune system. Thiopurine drugs are used to treat some autoimmune disorders, including Crohn disease and rheumatoid arthritis, which occur when the immune system malfunctions. These drugs are also used to treat several forms of cancer, particularly cancers of blood-forming tissue (leukemias) and cancers of immune system cells (lymphomas). Additionally, thiopurine drugs are used in organ transplant recipients to help prevent the immune system from attacking the transplanted organ.A potential complication of treatment with thiopurine drugs is damage to the bone marrow (hematopoietic toxicity). Although this complication can occur in anyone who takes these drugs, people with TPMT deficiency are at highest risk. Bone marrow normally makes several types of blood cells, including red blood cells, which carry oxygen; white blood cells, which help protect the body from infection; and platelets, which are involved in blood clotting. Damage to the bone marrow results in myelosuppression, a condition in which the bone marrow is unable to make enough of these cells. A shortage of red blood cells (anemia) can cause pale skin (pallor), weakness, shortness of breath, and extreme tiredness (fatigue). Low numbers of white blood cells (neutropenia) can lead to frequent and potentially life-threatening infections. A shortage of platelets (thrombocytopenia) can cause easy bruising and bleeding.Many healthcare providers recommend that patients' TPMT activity levels be tested before thiopurine drugs are prescribed. In people who are found to have reduced enzyme activity, the drugs may be given at a significantly lower dose or different medications can be used to reduce the risk of hematopoietic toxicity.TPMT deficiency does not appear to cause any health problems other than those associated with thiopurine drug treatment.

MalaCards based summary : Thiopurines, Poor Metabolism of, 1, also known as thiopurine s-methyltransferase deficiency, is related to thiopurine s methyltranferase deficiency and thiopurines, poor metabolism of, 2. An important gene associated with Thiopurines, Poor Metabolism of, 1 is TPMT (Thiopurine S-Methyltransferase), and among its related pathways/superpathways are Drug metabolism - other enzymes and Metabolism. Affiliated tissues include bone marrow, bone and myeloid, and related phenotypes are abnormality of metabolism/homeostasis and abnormality of blood and blood-forming tissues

Disease Ontology : 12 An inherited metabolic disease that is characterized by significantly reduced activity of an enzyme that helps the body process drugs called thiopurines.

OMIM® : 57 THPM1 is an autosomal recessive trait associated with severe hematopoietic toxicity when patients are treated with standard doses of the antineoplastic agents 6-mercaptopurine (6MP) or 6-thioguanine (6TG), or the immunosuppressant azathioprine (AZA) (Lennard et al., 1989). The thiopurines are prodrugs that require extensive metabolism in order to exert their cytotoxic action. Azathioprine is nonenzymatically reduced to 6MP. 6MP and 6TG are activated by HPRT (308000) and subsequent steps to form cytotoxic thioguanine nucleotides (TGNs) which are incorporated into DNA and/or RNA, causing DNA-protein cross-links, single-strand breaks, interstrand cross-links, and sister chromatid exchange. TPMT functions mainly to inactivate these drugs; thus, a deficiency of TPMT results in increased conversion to toxic TGNs, which can result in myelosuppression (Coulthard and Hogarth, 2005). However, 6MP is unique in that it can also be converted via TPMT into a methyl-thioinosine 5-prime monophosphate (MeTIMP), a metabolite that inhibits de novo purine synthesis and likely contributes to the cytotoxic effect of 6MP (Vogt et al., 1993; Krynetski et al., 1995; Coulthard and Hogarth, 2005). (610460) (Updated 20-May-2021)

KEGG : 36 Thiopurine S-methyltransferase deficiency (TPMT deficiency) is inherited severe intolerance to thiopurine toxicity, caused by mutation in the TPMT gene. TPMT is part of a cascade of enzymes responsible for the metabolism of thiopurine drugs including azathioprine, mercaptopurine, and thioguanine.

Related Diseases for Thiopurines, Poor Metabolism of, 1

Diseases in the Thiopurines, Poor Metabolism of, 1 family:

Thiopurines, Poor Metabolism of, 2

Diseases related to Thiopurines, Poor Metabolism of, 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 46)
# Related Disease Score Top Affiliating Genes
1 thiopurine s methyltranferase deficiency 11.5
2 thiopurines, poor metabolism of, 2 10.9
3 crohn's disease 10.3
4 autoimmune hepatitis 10.3
5 nodular regenerative hyperplasia 10.2 TPMT ITPA
6 leukemia, acute myeloid 10.1
7 colitis 10.1
8 crohn's colitis 10.1
9 ulcerative colitis 10.1
10 myeloid leukemia 10.1
11 abacavir allergy 10.1 VKORC1 SLCO1B1
12 leukemia, acute lymphoblastic 10.0
13 beta-thalassemia 10.0
14 sclerosing cholangitis 10.0
15 liver disease 10.0
16 cholangitis 10.0
17 thalassemia 10.0
18 severe cutaneous adverse reaction 10.0 VKORC1 TPMT CYP2D6
19 dubin-johnson syndrome 10.0 SLCO1B1 ABCC4
20 multiple chemical sensitivity 10.0 CYP3A5 CYP2D6
21 dermatitis, atopic 9.9
22 pancytopenia 9.9
23 cholestasis, progressive familial intrahepatic, 2 9.9 SLCO1B1 ABCC4
24 epicardium cancer 9.7 UGT1A8 UGT1A1
25 drug-induced hepatitis 9.7 UGT1A1 CYP2D6
26 blood group incompatibility 9.7 UGT1A8 UGT1A1
27 acetaminophen metabolism 9.6 UGT1A6 UGT1A1 CYP2D6
28 coumarin resistance 9.6 VKORC1 TPMT SLCO1B1 CYP3A5 CYP2D6
29 cardiomyopathy, dilated, with hypergonadotropic hypogonadism 9.5 UGT1A8 UGT1A6 UGT1A1
30 kernicterus 9.5 UGT1A8 UGT1A6 UGT1A1
31 bilirubin, serum level of, quantitative trait locus 1 9.5 UGT1A8 UGT1A6 UGT1A1
32 crigler-najjar syndrome, type ii 9.5 UGT1A8 UGT1A6 UGT1A1
33 cholelithiasis 9.5 UGT1A8 UGT1A6 UGT1A1
34 hyperbilirubinemia, transient familial neonatal 9.4 UGT1A8 UGT1A6 UGT1A1
35 gallbladder disease 9.4 UGT1A8 UGT1A6 UGT1A1
36 neutropenia 9.4 UGT1A1 TPMT DPYD CYP3A5
37 inherited metabolic disorder 9.4 UGT1A8 UGT1A6 UGT1A1
38 hereditary spherocytosis 9.4 UGT1A8 UGT1A6 UGT1A1
39 sickle cell anemia 9.4 UGT1A8 UGT1A6 UGT1A1
40 pigmentation disease 9.3 UGT1A8 UGT1A6 UGT1A1 SLCO1B1
41 crigler-najjar syndrome, type i 9.3 UGT1A8 UGT1A6 UGT1A1 SLCO1B1
42 leber plus disease 9.3 UGT1A8 UGT1A1 SLCO1B1 ABCC4
43 dihydropyrimidine dehydrogenase deficiency 9.2 UGT1A8 UGT1A6 UGT1A1 DPYD
44 glucosephosphate dehydrogenase deficiency 9.1 UGT1A8 UGT1A6 UGT1A1 SLCO1B1 CYP2D6
45 gilbert syndrome 8.5 UGT1A8 UGT1A6 UGT1A1 TPMT SLCO1B1 DPYD
46 bilirubin metabolic disorder 8.4 UGT1A8 UGT1A6 UGT1A1 SLCO1B1 DPYD CYP3A5

Graphical network of the top 20 diseases related to Thiopurines, Poor Metabolism of, 1:



Diseases related to Thiopurines, Poor Metabolism of, 1

Symptoms & Phenotypes for Thiopurines, Poor Metabolism of, 1

Human phenotypes related to Thiopurines, Poor Metabolism of, 1:

31
# Description HPO Frequency HPO Source Accession
1 abnormality of metabolism/homeostasis 31 HP:0001939
2 abnormality of blood and blood-forming tissues 31 HP:0001871

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Hematology:
myelosuppression develops on standard doses of thiopurine drugs
hematopoietic toxicity develops on standard doses of thiopurine drugs

Laboratory Abnormalities:
decreased activity of thiopurine s-methyltransferase
decreased metabolism of thiopurine drugs
increased toxic thioguanine nucleotides (tgns) on standard doses of thiopurine drugs

Clinical features from OMIM®:

610460 (Updated 20-May-2021)

Drugs & Therapeutics for Thiopurines, Poor Metabolism of, 1

Search Clinical Trials , NIH Clinical Center for Thiopurines, Poor Metabolism of, 1

Genetic Tests for Thiopurines, Poor Metabolism of, 1

Anatomical Context for Thiopurines, Poor Metabolism of, 1

MalaCards organs/tissues related to Thiopurines, Poor Metabolism of, 1:

40
Bone Marrow, Bone, Myeloid, Liver, Kidney

Publications for Thiopurines, Poor Metabolism of, 1

Articles related to Thiopurines, Poor Metabolism of, 1:

(show all 41)
# Title Authors PMID Year
1
Severe azathioprine-induced myelotoxicity in a kidney transplant patient with thiopurine S-methyltransferase-deficient genotype (TPMT*3A/*3C). 57 6
15819814 2005
2
A single point mutation leading to loss of catalytic activity in human thiopurine S-methyltransferase. 6 57
7862671 1995
3
Altered mercaptopurine metabolism, toxic effects, and dosage requirement in a thiopurine methyltransferase-deficient child with acute lymphocytic leukemia. 6 57
1960624 1991
4
Preponderance of thiopurine S-methyltransferase deficiency and heterozygosity among patients intolerant to mercaptopurine or azathioprine. 57 61
11304783 2001
5
Thiopurine S-methyltransferase deficiency: two nucleotide transitions define the most prevalent mutant allele associated with loss of catalytic activity in Caucasians. 61 6
8644731 1996
6
Explaining TPMT genotype/phenotype discrepancy by haplotyping of TPMT*3A and identification of a novel sequence variant, TPMT*23. 6
17885628 2007
7
Molecular analysis of thiopurine S-methyltransferase alleles in Taiwan aborigines and Taiwanese. 6
16476125 2006
8
The thiopurines: an update. 57
16267626 2005
9
Human thiopurine S-methyltransferase pharmacogenetics: variant allozyme misfolding and aggresome formation. 6
15967990 2005
10
Thiopurine methyltransferase (TPMT) genotype and early treatment response to mercaptopurine in childhood acute lymphoblastic leukemia. 57
15784872 2005
11
Thiopurine S-methyltransferase: a genetic polymorphism that affects a small number of drugs in a big way. 57
12172209 2002
12
Azathioprine therapy and adverse drug reactions in patients with inflammatory bowel disease: impact of thiopurine S-methyltransferase polymorphism. 57
12172211 2002
13
Genetic analysis of thiopurine methyltransferase polymorphism in a Japanese population. 6
10751626 2000
14
Thiopurine methyltransferase pharmacogenetics: alternative molecular diagnosis and preliminary data from Northern Portugal. 57
10376773 1999
15
Thiopurine methyltransferase alleles in British and Ghanaian populations. 6
9931345 1999
16
Polymorphism of the thiopurine S-methyltransferase gene in African-Americans. 6
9931346 1999
17
The frequency and distribution of thiopurine methyltransferase alleles in Caucasian and Asian populations. 6
10208641 1999
18
Thiopurine methyltransferase genotype predicts therapy-limiting severe toxicity from azathioprine. 57
9841604 1998
19
Azathioprine-induced severe pancytopenia due to a homozygous two-point mutation of the thiopurine methyltransferase gene in a patient with juvenile HLA-B27-associated spondylarthritis. 6
9336428 1997
20
Human thiopurine methyltransferase pharmacogenetics: gene sequence polymorphisms. 6
9246020 1997
21
Enhanced proteolysis of thiopurine S-methyltransferase (TPMT) encoded by mutant alleles in humans (TPMT*3A, TPMT*2): mechanisms for the genetic polymorphism of TPMT activity. 6
9177237 1997
22
Thiopurine methyltransferase pharmacogenetics: human gene cloning and characterization of a common polymorphism. 6
8561894 1996
23
Congenital thiopurine methyltransferase deficiency and 6-mercaptopurine toxicity during treatment for acute lymphoblastic leukaemia. 57
8257179 1993
24
The importance of methylthio-IMP for methylmercaptopurine ribonucleoside (Me-MPR) cytotoxicity in Molt F4 human malignant T-lymphoblasts. 57
7683208 1993
25
Azathioprine-induced myelosuppression in thiopurine methyltransferase deficient heart transplant recipient. 57
8094196 1993
26
Genetic variation in response to 6-mercaptopurine for childhood acute lymphoblastic leukaemia. 57
1973780 1990
27
Pharmacogenetics of acute azathioprine toxicity: relationship to thiopurine methyltransferase genetic polymorphism. 57
2758725 1989
28
Thiopurine pharmacogenetics in leukemia: correlation of erythrocyte thiopurine methyltransferase activity and 6-thioguanine nucleotide concentrations. 57
3467886 1987
29
Early Assessment of Thiopurine Metabolites Identifies Patients at Risk of Thiopurine-induced Leukopenia in Inflammatory Bowel Disease. 61
27402913 2017
30
Update on thiopurine pharmacogenetics in inflammatory bowel disease. 61
26067482 2015
31
Evidence for a functional genetic polymorphism of the Rho-GTPase Rac1. Implication in azathioprine response? 61
21372752 2011
32
Thiopurine S-methyltransferase deficiency associated with a novel mutation. 61
20186941 2010
33
Transporter-mediated protection against thiopurine-induced hematopoietic toxicity. 61
18593894 2008
34
Azathioprine-associated acute myeloid leukemia in a patient with Crohn's disease and thiopurine S-methyltransferase deficiency. 61
17696202 2008
35
Association of inosine triphosphatase 94C>A and thiopurine S-methyltransferase deficiency with adverse events and study drop-outs under azathioprine therapy in a prospective Crohn disease study. 61
16214825 2005
36
[Pharmacogenetics: Important aspects for dermatology]. 61
15645192 2005
37
Allelic variants of the thiopurine S-methyltransferase deficiency in patients with ulcerative colitis and in healthy controls. 61
11007234 2000
38
Molecular diagnosis of thiopurine S-methyltransferase deficiency. 61
9412292 1997
39
Acute lymphoblastic leukemia. 61
9286287 1997
40
Molecular diagnosis of thiopurine S-methyltransferase deficiency: genetic basis for azathioprine and mercaptopurine intolerance. 61
9103127 1997
41
Thiopurine S-methyltransferase activity in a Chinese population. 61
8330462 1993

Variations for Thiopurines, Poor Metabolism of, 1

ClinVar genetic disease variations for Thiopurines, Poor Metabolism of, 1:

6 (show all 13)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TPMT NM_000367.2(TPMT):c.238G>C (p.Ala80Pro) SNV drug response 12721 rs1800462 GRCh37: 6:18143955-18143955
GRCh38: 6:18143724-18143724
2 TPMT NM_000367.4(TPMT):c.626-1G>A SNV drug response 12723 rs1800584 GRCh37: 6:18131012-18131012
GRCh38: 6:18130781-18130781
3 TPMT NM_000367.4(TPMT):c.644G>A (p.Arg215His) SNV drug response 12726 rs56161402 GRCh37: 6:18130993-18130993
GRCh38: 6:18130762-18130762
4 TPMT NM_000367.4(TPMT):c.500C>G (p.Ala167Gly) SNV drug response 12727 rs74423290 GRCh37: 6:18134115-18134115
GRCh38: 6:18133884-18133884
5 TPMT NM_000367.4(TPMT):c.460G>A (p.Ala154Thr) SNV drug response 12722 rs1800460 GRCh37: 6:18139228-18139228
GRCh38: 6:18138997-18138997
6 TPMT NM_000367.4(TPMT):c.460G>A (p.Ala154Thr) SNV drug response 37126 rs1800460 GRCh37: 6:18139228-18139228
GRCh38: 6:18138997-18138997
7 TPMT NM_000367.4(TPMT):c.719A>G (p.Tyr240Cys) SNV drug response 12725 rs1142345 GRCh37: 6:18130918-18130918
GRCh38: 6:18130687-18130687
8 TPMT NM_000367.4(TPMT):c.210C>T (p.Cys70=) SNV Uncertain significance 356119 rs186214874 GRCh37: 6:18148077-18148077
GRCh38: 6:18147846-18147846
9 TPMT NM_000367.4(TPMT):c.*1778_*1781dup Duplication Uncertain significance 356089 rs886061256 GRCh37: 6:18129117-18129118
GRCh38: 6:18128886-18128887
10 TPMT NM_000367.4(TPMT):c.-138del Deletion Uncertain significance 356125 rs543585967 GRCh37: 6:18155357-18155357
GRCh38: 6:18155126-18155126
11 TPMT NM_000367.4(TPMT):c.335T>A (p.Ile112Asn) SNV Uncertain significance 356117 rs886061266 GRCh37: 6:18143858-18143858
GRCh38: 6:18143627-18143627
12 TPMT NM_000367.4(TPMT):c.*899_*902del Deletion Uncertain significance 356102 rs542619563 GRCh37: 6:18129997-18130000
GRCh38: 6:18129766-18129769
13 TPMT NM_000367.4(TPMT):c.*414G>A SNV Uncertain significance 356108 rs528907381 GRCh37: 6:18130485-18130485
GRCh38: 6:18130254-18130254

Expression for Thiopurines, Poor Metabolism of, 1

Search GEO for disease gene expression data for Thiopurines, Poor Metabolism of, 1.

Pathways for Thiopurines, Poor Metabolism of, 1

Pathways related to Thiopurines, Poor Metabolism of, 1 according to KEGG:

36
# Name Kegg Source Accession
1 Drug metabolism - other enzymes hsa00983

Pathways related to Thiopurines, Poor Metabolism of, 1 according to GeneCards Suite gene sharing:

(show all 30)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.94 VKORC1 UGT1A8 UGT1A6 UGT1A1 TPMT SLCO1B1
2
Show member pathways
13.08 UGT1A8 UGT1A6 UGT1A1 TPMT CYP3A5 CYP2D6
3
Show member pathways
12.62 NUDT15 ITPA GMPS DPYD
4 12.4 UGT1A8 UGT1A6 UGT1A1 GMPS CYP2D6 ABCC4
5
Show member pathways
12.09 VKORC1 UGT1A8 UGT1A6 UGT1A1
6
Show member pathways
12.01 UGT1A8 UGT1A6 UGT1A1
7
Show member pathways
12.01 UGT1A8 UGT1A6 UGT1A1 TPMT ITPA GMPS
8 11.97 UGT1A6 UGT1A1 ABCC4
9
Show member pathways
11.86 UGT1A1 SLCO1B1 CYP3A5 CYP2D6 ABCC4
10
Show member pathways
11.82 SLCO1B1 CYP3A5 CYP2D6
11 11.67 UGT1A8 UGT1A6 UGT1A1 SLCO1B1 ABCC4
12
Show member pathways
11.62 UGT1A8 UGT1A6 UGT1A1 CYP3A5
13
Show member pathways
11.61 UGT1A8 UGT1A6 UGT1A1
14
Show member pathways
11.58 UGT1A6 UGT1A1 CYP3A5 CYP2D6
15
Show member pathways
11.55 UGT1A8 UGT1A6 UGT1A1 CYP2D6 ABCC4
16
Show member pathways
11.52 UGT1A8 UGT1A1 SLCO1B1 CYP2D6
17
Show member pathways
11.47 UGT1A1 CYP3A5 CYP2D6
18
Show member pathways
11.32 UGT1A8 CYP3A5 CYP2D6
19
Show member pathways
11.32 UGT1A8 UGT1A6 UGT1A1 SLCO1B1 CYP3A5
20
Show member pathways
11.27 UGT1A1 CYP3A5 CYP2D6
21
Show member pathways
11.24 UGT1A8 UGT1A6 UGT1A1
22 11.23 SLCO1B1 CYP3A5
23 11.21 UGT1A6 UGT1A1 CYP3A5
24
Show member pathways
11.2 UGT1A1 SLCO1B1 CYP3A5 CYP2D6
25
Show member pathways
10.93 SLCO1B1 ABCC4
26 10.85 SLCO1B1 ABCC4
27 10.79 CYP2D6 ABCC4
28 10.79 UGT1A1 CYP3A5
29 10.79 TPMT NUDT15 ITPA GMPS ABCC4
30
Show member pathways
10.64 UGT1A1 CYP2D6

GO Terms for Thiopurines, Poor Metabolism of, 1

Cellular components related to Thiopurines, Poor Metabolism of, 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum GO:0005783 9.63 VKORC1 UGT1A8 UGT1A6 UGT1A1 CYP3A5 CYP2D6
2 endoplasmic reticulum membrane GO:0005789 9.43 VKORC1 UGT1A8 UGT1A6 UGT1A1 CYP3A5 CYP2D6
3 intracellular membrane-bounded organelle GO:0043231 9.17 VKORC1 UGT1A6 UGT1A1 PACSIN2 ITPA CYP3A5

Biological processes related to Thiopurines, Poor Metabolism of, 1 according to GeneCards Suite gene sharing:

(show all 21)
# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.97 VKORC1 DPYD CYP3A5 CYP2D6 ABCC4
2 response to organic cyclic compound GO:0014070 9.76 VKORC1 UGT1A1 ABCC4
3 steroid metabolic process GO:0008202 9.73 UGT1A8 UGT1A1 CYP3A5 CYP2D6
4 xenobiotic metabolic process GO:0006805 9.72 UGT1A6 CYP3A5 CYP2D6
5 response to organonitrogen compound GO:0010243 9.6 VKORC1 ABCC4
6 exogenous drug catabolic process GO:0042738 9.59 NUDT15 CYP2D6
7 oxidative demethylation GO:0070989 9.57 CYP3A5 CYP2D6
8 purine nucleotide catabolic process GO:0006195 9.56 NUDT15 ITPA
9 heterocycle metabolic process GO:0046483 9.54 UGT1A1 CYP2D6
10 estrogen metabolic process GO:0008210 9.54 UGT1A1 CYP3A5 CYP2D6
11 negative regulation of fatty acid metabolic process GO:0045922 9.52 UGT1A8 UGT1A1
12 coumarin metabolic process GO:0009804 9.51 UGT1A8 CYP2D6
13 retinoic acid metabolic process GO:0042573 9.5 UGT1A8 UGT1A1 CYP3A5
14 flavone metabolic process GO:0051552 9.49 UGT1A8 UGT1A1
15 drug catabolic process GO:0042737 9.48 CYP3A5 CYP2D6
16 alkaloid catabolic process GO:0009822 9.46 CYP3A5 CYP2D6
17 cellular glucuronidation GO:0052695 9.43 UGT1A8 UGT1A6 UGT1A1
18 negative regulation of steroid metabolic process GO:0045939 9.4 UGT1A8 UGT1A1
19 xenobiotic glucuronidation GO:0052697 9.33 UGT1A8 UGT1A6 UGT1A1
20 flavonoid glucuronidation GO:0052696 9.13 UGT1A8 UGT1A6 UGT1A1
21 drug metabolic process GO:0017144 9.02 VKORC1 UGT1A8 UGT1A1 TPMT CYP2D6

Molecular functions related to Thiopurines, Poor Metabolism of, 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 steroid hydroxylase activity GO:0008395 9.48 CYP3A5 CYP2D6
2 steroid binding GO:0005496 9.46 UGT1A8 UGT1A1
3 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen GO:0016712 9.43 CYP3A5 CYP2D6
4 NADH pyrophosphatase activity GO:0035529 9.4 NUDT15 ITPA
5 nucleotide diphosphatase activity GO:0004551 9.37 NUDT15 ITPA
6 glucuronosyltransferase activity GO:0015020 9.33 UGT1A8 UGT1A6 UGT1A1
7 nucleoside-triphosphate diphosphatase activity GO:0047429 9.32 NUDT15 ITPA
8 dTTP diphosphatase activity GO:0036218 9.26 NUDT15 ITPA
9 retinoic acid binding GO:0001972 9.13 UGT1A8 UGT1A6 UGT1A1
10 UDP-glycosyltransferase activity GO:0008194 8.8 UGT1A8 UGT1A6 UGT1A1

Sources for Thiopurines, Poor Metabolism of, 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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