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: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.400 Biomarker disease BEFREE <b>Conclusion:</b><i>CYP2D6*10</i> pharmacogenetic-guided selective estrogen receptor modulator can be a cost-effective strategy in the Chinese patients with hormone receptor-positive breast cancer. 31769341 2020
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.400 Biomarker disease BEFREE <b>Conclusion:</b><i>CYP2D6*10</i> pharmacogenetic-guided selective estrogen receptor modulator can be a cost-effective strategy in the Chinese patients with hormone receptor-positive breast cancer. 31769341 2020
CUI: C0221271
Disease: Elastosis perforans serpiginosa
Elastosis perforans serpiginosa
0.030 GeneticVariation disease BEFREE 1.The aim of the present study was to examine the relationship between CYP2D6 polymorphisms and the risk of antipsychotic (AP)-induced extrapyramidal symptoms (EPS) in patients receiving AP treatment. 18346175 2008
EAR, PATELLA, SHORT STATURE SYNDROME
0.030 GeneticVariation disease BEFREE 1.The aim of the present study was to examine the relationship between CYP2D6 polymorphisms and the risk of antipsychotic (AP)-induced extrapyramidal symptoms (EPS) in patients receiving AP treatment. 18346175 2008
CUI: C0011570
Disease: Mental Depression
Mental Depression
0.400 Biomarker disease BEFREE 182 subjects diagnosed with depression and treated with these drugs were clinically and therapeutically characterized and submitted to the quantification of drug/metabolite plasma concentrations and genotyping of ABCB1, CYP2C9, CYP2C19, and CYP2D6 genes. 31120287 2020
CUI: C0011581
Disease: Depressive disorder
Depressive disorder
0.400 Biomarker disease BEFREE 182 subjects diagnosed with depression and treated with these drugs were clinically and therapeutically characterized and submitted to the quantification of drug/metabolite plasma concentrations and genotyping of ABCB1, CYP2C9, CYP2C19, and CYP2D6 genes. 31120287 2020
CUI: C0344315
Disease: Depressed mood
Depressed mood
0.100 Biomarker phenotype BEFREE 182 subjects diagnosed with depression and treated with these drugs were clinically and therapeutically characterized and submitted to the quantification of drug/metabolite plasma concentrations and genotyping of ABCB1, CYP2C9, CYP2C19, and CYP2D6 genes. 31120287 2020
CUI: C0007682
Disease: CNS disorder
CNS disorder
0.030 AlteredExpression group BEFREE 25-HC is elevated in patients with inflammatory CNS disease probably as a consequence of up-regulation of the type 1 interferon-stimulated gene cholesterol 25-hydroxylase in macrophages. 27878760 2017
CUI: C0035112
Disease: Reoviridae Infections
Reoviridae Infections
0.010 Biomarker group BEFREE 25-Hydroxycholesterol Production by the Cholesterol-25-Hydroxylase Interferon-Stimulated Gene Restricts Mammalian Reovirus Infection. 29950420 2018
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder
0.500 Biomarker disease PSYGENET 47 patients with Major Depressive Disorder, treated with V 75 - 300 mg/day, underwent CYP2D6 genotyping using the INFINITI-CYP2D6 assay. 24660534 2014
CUI: C0041696
Disease: Unipolar Depression
Unipolar Depression
0.380 Biomarker disease PSYGENET 47 patients with Major Depressive Disorder, treated with V 75 - 300 mg/day, underwent CYP2D6 genotyping using the INFINITI-CYP2D6 assay. 24660534 2014
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung
0.100 GeneticVariation disease BEFREE Lung cancer risks for the CYP2D6 PM genotype amongst light smokers (tobacco consumption </=20 g/day) or heavy smokers (>20 g/day) were not significantly different. 10974631 2000
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
0.100 GeneticVariation disease BEFREE Lung cancer risks for the CYP2D6 PM genotype amongst light smokers (tobacco consumption </=20 g/day) or heavy smokers (>20 g/day) were not significantly different. 10974631 2000
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung
0.100 GeneticVariation disease BEFREE Lung cancer risks for the CYP2D6 PM genotype amongst light smokers (tobacco consumption </=20 g/day) or heavy smokers (>20 g/day) were not significantly different. 10974631 2000
CUI: C0013384
Disease: Dyskinetic syndrome
Dyskinetic syndrome
0.030 Biomarker disease BEFREE Abnormal movements and tardive dyskinesia in smokers and nonsmokers with schizophrenia genotyped for cytochrome P450 2D6. 12432967 2002
CUI: C0236734
Disease: Caffeine related disorders
Caffeine related disorders
0.070 Biomarker group BEFREE Caffeine and debrisoquine were used as measures of CYP1A2 and CYP2D6, respectively. 12640212 2003
CUI: C0019196
Disease: Hepatitis C
Hepatitis C
0.090 AlteredExpression disease BEFREE Hepatitis C positive individuals were associated with a lower liver CYP2D6 enzyme activity. 21677335 2011
CUI: C4284120
Disease: Ecstasy related disorders
Ecstasy related disorders
0.020 GeneticVariation disease BEFREE Ecstasy (MDMA)-induced hyponatraemia is associated with genetic variants in CYP2D6 and COMT. 22303032 2012
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.100 GeneticVariation group BEFREE Cancer physicians were most likely to recommend BRCA1/2 mutation testing (73%) and least likely to recommend CYP2D6 genotyping (12%), while patients were more likely to choose Oncotype DX testing (28%) over CYP2D6 (21%) and BRCA1/2 testing (15%). 22560561 2013
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.100 GeneticVariation group BEFREE Cancer physicians were most likely to recommend BRCA1/2 mutation testing (73%) and least likely to recommend CYP2D6 genotyping (12%), while patients were more likely to choose Oncotype DX testing (28%) over CYP2D6 (21%) and BRCA1/2 testing (15%). 22560561 2013
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.400 GeneticVariation disease BEFREE Breast cancer patients (n = 141) on adjuvant tamoxifen and not on any concomitant CYP2D6 inhibitors were recruited for the study. 22623212 2012
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.400 GeneticVariation disease BEFREE Breast cancer patients (n = 141) on adjuvant tamoxifen and not on any concomitant CYP2D6 inhibitors were recruited for the study. 22623212 2012