Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0752347
Disease: Lewy Body Disease
Lewy Body Disease 		0.020 GeneticVariation disease BEFREE Association of CYP2D microsatellite polymorphism with Lewy body variant of Alzheimer's disease. 9633694 1998
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		0.020 GeneticVariation disease BEFREE Taking this new information into account, we have reconsidered the potential influence of CYP2D6 polymorphism in lung cancer susceptibility by performing a comparative analysis of the overall mutational spectrum of CYP2D6 and of the rearrangements of CYP2D in 249 patients with lung cancer and in 265 control individuals matched on age, sex, hospital and residence area. 9511176 1998
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.020 Biomarker group BEFREE Localization of an ovarian cancer tumor suppressor gene to a 0.5-cM region between D22S284 and CYP2D, on chromosome 22q. 8631002 1996
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.020 GeneticVariation disease BEFREE Cytochrome P4502D6, responsible for metabolizing many clinically important medications, also is linked to lung cancer risk. 7737047 1994
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.020 GeneticVariation disease BEFREE Cytochrome P4502D6, responsible for metabolizing many clinically important medications, also is linked to lung cancer risk. 7737047 1994
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		0.020 GeneticVariation disease BEFREE Cytochrome P4502D6, responsible for metabolizing many clinically important medications, also is linked to lung cancer risk. 7737047 1994
CUI: C0241910
Disease: Autoimmune Chronic Hepatitis
Autoimmune Chronic Hepatitis 		0.020 Biomarker disease BEFREE Major antigen of liver kidney microsomal autoantibodies in idiopathic autoimmune hepatitis is cytochrome P450db1. 2466049 1989
CUI: C4721555
Disease: Autoimmune hepatitis
Autoimmune hepatitis 		0.020 Biomarker disease BEFREE Major antigen of liver kidney microsomal autoantibodies in idiopathic autoimmune hepatitis is cytochrome P450db1. 2466049 1989
CUI: C0011847
Disease: Diabetes
Diabetes 		0.010 Biomarker disease BEFREE The simulated diabetes in CYP2D poor metabolizers showed reduced metabolic ratios for M1 enantiomers. 30502451 2019
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		0.010 Biomarker group BEFREE The simulated diabetes in CYP2D poor metabolizers showed reduced metabolic ratios for M1 enantiomers. 30502451 2019
CUI: C0400966
Disease: Non-alcoholic Fatty Liver Disease
Non-alcoholic Fatty Liver Disease 		0.010 AlteredExpression disease BEFREE This study aims to evaluate the possible pharmacokinetic changes in NAFLD as a result of reduced metabolic activity of CYP2D. 30786957 2019
CUI: C0011581
Disease: Depressive disorder
Depressive disorder 		0.010 Biomarker disease BEFREE The activity of brain and liver cytochrome P450 2D (CYP2D) is differently affected by antidepressants in the chronic mild stress (CMS) model of depression in the rat. 30195732 2018
CUI: C0028754
Disease: Obesity
Obesity 		0.010 GeneticVariation disease BEFREE EMA effectively resolves particularly challenging alignments in genomic regions that contain nearby homologous elements, uncovering variants in the pharmacogenomically important CYP2D region, and clinically important genes C4 (schizophrenia) and AMY1A (obesity), which go undetected by existing methods. 30138581 2018
CUI: C0236734
Disease: Caffeine related disorders
Caffeine related disorders 		0.010 Biomarker group BEFREE The five probe substrates were caffeine (2 mg/kg), bupropion (30 mg/kg), omeprazole (4 mg/kg), dextromethorphan (40 mg/kg), and midazolam (2 mg/kg) for CYP1A, CYP2B, CYP2C, CYP2D, and CYP3A, respectively. 29550976 2018
CUI: C0344315
Disease: Depressed mood
Depressed mood 		0.010 Biomarker phenotype BEFREE The activity of brain and liver cytochrome P450 2D (CYP2D) is differently affected by antidepressants in the chronic mild stress (CMS) model of depression in the rat. 30195732 2018
CUI: C0007370
Disease: Catalepsy
Catalepsy 		0.010 Biomarker disease BEFREE Selective inhibition and induction of brain, but not liver, CYP2D decreased and increased catalepsy after acute haloperidol, respectively. 28454738 2017
CUI: C0278996
Disease: Malignant Head and Neck Neoplasm
Malignant Head and Neck Neoplasm 		0.010 GeneticVariation disease BEFREE However, the combinations of CYP1A1 (AA) and CYP2D6 (CC) genotypes decreased risk of HNC (OR 0.20; P = 0.006). 24449363 2014
CUI: C3887461
Disease: Head and Neck Carcinoma
Head and Neck Carcinoma 		0.010 GeneticVariation disease BEFREE However, the combinations of CYP1A1 (AA) and CYP2D6 (CC) genotypes decreased risk of HNC (OR 0.20; P = 0.006). 24449363 2014
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.010 GeneticVariation disease BEFREE Role of cytochrome P4502D6 functional polymorphisms in the efficacy of donepezil in patients with Alzheimer's disease. 20859244 2011
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 Biomarker disease BEFREE The gene encoding the phase I enzyme cytochrome P4502D6 (CYP2D6) has been previously investigated for its potential predictive role in the efficacy of breast cancer treatments such as tamoxifen, but its role in breast cancer susceptibility is unclear. 21527579 2011
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 Biomarker disease BEFREE The gene encoding the phase I enzyme cytochrome P4502D6 (CYP2D6) has been previously investigated for its potential predictive role in the efficacy of breast cancer treatments such as tamoxifen, but its role in breast cancer susceptibility is unclear. 21527579 2011
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 GeneticVariation group BEFREE The results indicated that there is a 3-fold increase in risk of developing this cancer in the presence of one copy of the variant CYP2D6 (HEM) allele and null GSTT1. 15588859 2005
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.010 GeneticVariation group BEFREE The results indicated that there is a 3-fold increase in risk of developing this cancer in the presence of one copy of the variant CYP2D6 (HEM) allele and null GSTT1. 15588859 2005
CUI: C0399368
Disease: Amelogenesis Imperfecta, Type IB
Amelogenesis Imperfecta, Type IB 		0.010 Biomarker disease BEFREE Liver Kidney Microsomal autoantibody type 1(LKM1) directed to cytochrome P4502D6 (CYP2D6) characterises autoimmune hepatitis type-2 (AIH-2), but is also found in a proportion of chronic hepatitis C virus (HCV) infected patients, CYP2D6252-271 being a major B- cell autoepitope. 15000871 2004
CUI: C4303163
Disease: Autoimmune hepatitis type 2
Autoimmune hepatitis type 2 		0.010 Biomarker disease BEFREE Liver Kidney Microsomal autoantibody type 1(LKM1) directed to cytochrome P4502D6 (CYP2D6) characterises autoimmune hepatitis type-2 (AIH-2), but is also found in a proportion of chronic hepatitis C virus (HCV) infected patients, CYP2D6252-271 being a major B- cell autoepitope. 15000871 2004