Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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: 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: 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: 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: 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: C0017551
Disease: Gilbert Disease (disorder)
Gilbert Disease (disorder)
0.010 Biomarker disease BEFREE Gilbert's syndrome, a genetic deficiency in bilirubin UDP-glucuronosyltransferase (UGT1A1), may dispose to increased toxicity of propafenone in poor metabolizers (PMs) of cytochrome P4502D6 because glucuronidation of propafenone is the major metabolic pathway for drug elimination in PMs. 10850406 2000
CUI: C0024121
Disease: Lung Neoplasms
Lung Neoplasms
0.010 AlteredExpression group BEFREE Comparisons of CYP2D messenger RNA splice variant profiles in human lung tumors and normal tissues. 9205060 1997
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: 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: 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: 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: 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: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders
0.010 Biomarker group BEFREE Alternative splicing patterns of CYP2D genes in human brain and neurodegenerative disorders. 10534269 1999
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
Attention deficit hyperactivity disorder
0.010 Biomarker disease BEFREE Atomoxetine is a treatment for attention-deficit/hyperactivity disorder and is primarily eliminated via cytochrome P4502D6 (CYP2D6). 12621383 2003
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
Lewy Body Variant of Alzheimer Disease
0.010 GeneticVariation disease BEFREE Association of CYP2D microsatellite polymorphism with Lewy body variant of Alzheimer's disease. 9633694 1998
CUI: C3203671
Disease: CYP2D6 polymorphism
CYP2D6 polymorphism
0.010 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: C3544321
Disease: Treatment-resistant schizophrenia
Treatment-resistant schizophrenia
0.010 GeneticVariation disease BEFREE A patient with treatment-resistant schizophrenia and cytochrome P4502D6 gene duplication. 11940091 2002
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: 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
CUI: C4511452
Disease: Sporadic Parkinson disease
Sporadic Parkinson disease
0.010 GeneticVariation disease BEFREE Four polymorphic sites (C/T188, C/T2938, G/C4268, G/A1934) in the cytochrome P4502D6 (debrisoquine 4-hydroxylase) gene were investigated for their association with sporadic Parkinson's disease (PD). 10210913 1999
Child Development Disorders, Pervasive
0.100 GeneticVariation group GWASCAT Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia. 28540026 2017