Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Drug Metabolism, Poor, CYP2D6-Related
0.300 Biomarker phenotype CTD_human
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.200 Biomarker group HPO
Abnormality of metabolism/homeostasis
0.100 Biomarker phenotype HPO
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung
0.100 Biomarker disease BEFREE Case-control studies that assess the effects of CYPIID6 on lung cancer risk have consistently shown a mildly decreased risk for lung cancer among poor metabolizers. 1302563 1993
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
0.100 Biomarker disease BEFREE Case-control studies that assess the effects of CYPIID6 on lung cancer risk have consistently shown a mildly decreased risk for lung cancer among poor metabolizers. 1302563 1993
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung
0.100 Biomarker disease BEFREE Case-control studies that assess the effects of CYPIID6 on lung cancer risk have consistently shown a mildly decreased risk for lung cancer among poor metabolizers. 1302563 1993
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.100 GeneticVariation group BEFREE Simple DNA based assays for the identification of individuals nulled at the CYP2D6 locus are described and have been applied to investigate whether this gene defect is associated with altered cancer susceptibility. 1306335 1992
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.100 GeneticVariation group BEFREE Simple DNA based assays for the identification of individuals nulled at the CYP2D6 locus are described and have been applied to investigate whether this gene defect is associated with altered cancer susceptibility. 1306335 1992
CUI: C0241910
Disease: Autoimmune Chronic Hepatitis
Autoimmune Chronic Hepatitis
0.100 GeneticVariation disease BEFREE To examine this question, genomic DNA from peripheral lymphocytes (n = 9) and liver (n = 1) of 10 patients with anti-LKM-1 antibody was analysed by Southern blot for genetic association studies between a particular CYP2D6 haplotype and autoimmune hepatitis. 1346512 1992
CUI: C4721555
Disease: Autoimmune hepatitis
Autoimmune hepatitis
0.100 GeneticVariation disease BEFREE To examine this question, genomic DNA from peripheral lymphocytes (n = 9) and liver (n = 1) of 10 patients with anti-LKM-1 antibody was analysed by Southern blot for genetic association studies between a particular CYP2D6 haplotype and autoimmune hepatitis. 1346512 1992
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.400 GeneticVariation disease BEFREE The frequency of fifteen genotypes of CYP2D6 (debrisoquine 4-hydroxylase) in 53 patients with Parkinson's disease was determined by the polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP) analyses and compared with the findings in 72 healthy controls. 1349052 1992
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.400 GeneticVariation disease BEFREE Individuals with a metabolic defect in the cytochrome P450 CYP2D6-debrisoquine hydroxylase gene with the poor metaboliser phenotype had a 2.54-fold (95% Cl 1.51-4.28) increased risk of Parkinson's disease. 1350805 1992
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.100 Biomarker group BEFREE This could be explained by a role for CYP2D6 in carcinogen detoxification or by linkage to another cancer-causing gene. 1600608 1992
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.100 Biomarker group BEFREE This could be explained by a role for CYP2D6 in carcinogen detoxification or by linkage to another cancer-causing gene. 1600608 1992
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.100 GeneticVariation group BEFREE The glutathione transferase mu gene (GST1) and the debrisoquine hydroxylase gene (CYP2D6) are known to be polymorphic in the human population and have been associated with increased susceptibility to cancer. 1684153 1991
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.100 GeneticVariation group BEFREE The glutathione transferase mu gene (GST1) and the debrisoquine hydroxylase gene (CYP2D6) are known to be polymorphic in the human population and have been associated with increased susceptibility to cancer. 1684153 1991
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung
0.100 GeneticVariation disease BEFREE These studies indicate that no single mutant CYP2D6 allele as determined by EcoRI appears to be associated with lung cancer, despite the findings that these patients are invariably of the extensive metabolizer phenotype. 1976046 1990
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
0.100 GeneticVariation disease BEFREE These studies indicate that no single mutant CYP2D6 allele as determined by EcoRI appears to be associated with lung cancer, despite the findings that these patients are invariably of the extensive metabolizer phenotype. 1976046 1990
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung
0.100 GeneticVariation disease BEFREE These studies indicate that no single mutant CYP2D6 allele as determined by EcoRI appears to be associated with lung cancer, despite the findings that these patients are invariably of the extensive metabolizer phenotype. 1976046 1990
Malignant neoplasm of urinary bladder
0.060 GeneticVariation disease BEFREE CYP2D6 and NAT genotypes may interact in bladder cancer. 2011143 1991
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm
0.060 GeneticVariation disease BEFREE CYP2D6 and NAT genotypes may interact in bladder cancer. 2011143 1991
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder
0.060 GeneticVariation disease BEFREE CYP2D6 and NAT genotypes may interact in bladder cancer. 2011143 1991
CUI: C0007121
Disease: Bronchogenic Carcinoma
Bronchogenic Carcinoma
0.020 GeneticVariation disease BEFREE For example CYP1A1, CYP2D6 and GST1 genotypes may have additive or multiplicative risks of bronchogenic carcinoma in cigarette smokers. 2011143 1991
CUI: C0520463
Disease: Chronic active hepatitis
Chronic active hepatitis
0.010 GeneticVariation disease BEFREE In summary, a case of autoimmune-type chronic active hepatitis is presented which is associated with a new variant of LKM antibodies reacting with a 50 kDa microsomal protein different from cytochrome P450 db1. 2195110 1990
CUI: C0241910
Disease: Autoimmune Chronic Hepatitis
Autoimmune Chronic Hepatitis
0.100 Biomarker disease BEFREE Major antigen of liver kidney microsomal autoantibodies in idiopathic autoimmune hepatitis is cytochrome P450db1. 2466049 1989