Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.400 GeneticVariation disease BEFREE Polymorphisms of catechol-0-methyltransferase (COMT), monoamine oxidase B (MAOB), N-acetyltransferase 2 (NAT2) and cytochrome P450 2D6 (CYP2D6) gene in patients with early onset of Parkinson's disease. 17270484 2007
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.400 GeneticVariation disease BEFREE Interaction between GSTM1-null and CYP2D6-deficient alleles in the pathogenesis of Parkinson's disease. 15061826 2004
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.400 GeneticVariation disease BEFREE By contrast with the common occurrence of polymorphism of the CYP2D6 gene (a gene involved with xenobiotic metabolism) in white people, it is very rare in China and is not thought to be a significant factor contributing to Parkinson's disease in Chinese people. 9810958 1998
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.400 GeneticVariation disease BEFREE Meanwhile, epidemiological studies from China have shown that the prevalence of PD is much lower than in the Caucasian population, explained by the low frequency of cytochrome P-450 CYP2D6 debrisoquine hydroxylase gene polymorphism. 15829184 2005
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.400 GeneticVariation disease BEFREE No significant association was found between CYP2D6 genotype and PD, but subjects with extensive metabolizer (EM) CYP2D6 phenotype, and the variant GSTP1*B genotype were at significantly higher PD risk than the corresponding poor or intermediary metabolizers (CYP2D6 poor metabolizer phenotype+intermediary metabolizers). 17250723 2007
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.400 GeneticVariation disease BEFREE The CYP2D6 B mutation may be involved in pathogenesis of LBV and PD in a dominant-negative manner, or in the linkage disequilibrium of the CYP2D microsatellite to another pathogenic gene locus. 9633694 1998
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.400 GeneticVariation disease BEFREE Whilst an elevated frequency of the CYP2D6*4 allele was found in Parkinson's disease, no such elevations were found in DLB or Alzheimer's disease. 10208640 1999
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.400 GeneticVariation disease BEFREE These data indicate that the CYP2D6 locus is not the major determinant of genetic susceptibility in familial Parkinson's disease. 8057112 1994
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.400 GeneticVariation disease BEFREE Further, cases carrying combination of heterozygous genotypes of CYP2D6*4 or CYP2D6*10A(188C > T) and NAT2*5 were found to be at significantly higher risk for PD demonstrating the importance of gene-gene interactions in determining susceptibility to PD. 20364044 2010
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.400 GeneticVariation disease BEFREE Furthermore, reports of associations between alleles of the CYP2D6 locus (nearby on 22q13) and IPD, although inconsistent, indicated that an IPD susceptibility locus might be in strong linkage disequilibrium with CYP2D6. 9630632 1998
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.400 GeneticVariation disease BEFREE We investigated the association of Parkinson's disease (PD) with two genes encoding liver-detoxifying enzymes, debrisoquine 4-hydroxylase (CYP2D6) and N-acetyltransferase 2 (NAT2), and with one gene related to Alzheimer's disease, apolipoprotein E (APOE). 10928584 2000
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.400 GeneticVariation disease BEFREE Despite several recent meta-analyses showing an association between several polymorphisms in genes related with detoxification mechanisms such as cytochrome P4502D6 (CYP2D6), and glutathione transferases M1 and T1 (GSTM1, and GSTT1), data on NAT2 gene polymorphisms obtained from the current meta-analysis do not support a major association with PD risk, except in Asian populations. 27216438 2016
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.400 GeneticVariation disease BEFREE However, other hypotheses have been suggested: impairment of neuronal CYP 2D6 expression, transient modification of CYP 2D6 phenotype, or linkage of CYP2D6 gene to the candidate gene locus directly involved in IPD. 8726540 1996
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.400 GeneticVariation disease BEFREE Seventeen mutations occurring alone or in various combination on 14 alleles of CYP2D6 have been identified in patients with sporadic PD. 10091614 1999
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.400 GeneticVariation disease BEFREE Genetic polymorphism of cytochrome P450 2D6 in idiopathic Parkinson disease and diffuse Lewy body disease. 9316701 1994
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: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.400 GeneticVariation disease BEFREE This comprehensive study of CYP2D6 mutations demonstrates that other genes or shared environmental exposures account for the familial risk of PD. 10435495 1999
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.400 GeneticVariation disease BEFREE To investigate the relationship between CYP2D6 genotypes (reported to be associated with the susceptibilities to Parkinson's disease and multisystem atrophy) and the possible susceptibility to neuroleptic malignant syndrome (NMS) and subacute myelo-optico-neuropathy (SMON), we analyzed the CYP2D6 gene by polymerase chain reaction and restriction fragment length polymorphism in Japanese schizophrenia patients with a history of NMS. 9892857 1999
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.400 GeneticVariation disease BEFREE As yet, there is no conclusive evidence to suggest that CYP2D6 polymorphisms confer susceptibility to PD. 9539332 1998
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.400 Biomarker disease BEFREE Our result supports the hypothesis that the CYP2D6 gene is not a major gene responsible for PD. 11295783 2001
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.400 Biomarker disease BEFREE Although they are based on a small group of subjects with the joint exposure, our findings are consistent with a gene-environment interaction disease model according to which (1) pesticides have a modest effect in subjects who are not CYP2D6 poor metabolizers, (2) pesticides' effect is increased in poor metabolizers (approximately twofold), and (3) poor metabolizers are not at increased PD risk in the absence of pesticide exposure. 14991823 2004
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.400 Biomarker disease BEFREE Cytochrome P4502D6 (debrisoquine 4-hydroxylase) and Parkinson's disease in Chinese and Caucasians. 10210913 1999
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.400 Biomarker disease BEFREE These results suggest the combined effect of environmental toxins and CYP2D6 in the cause of Parkinson's disease. 7697946 1995
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.400 Biomarker disease BEFREE Impaired debrisoquine metabolism resulting from defects in the cytochrome P450 CYP2D6-debrisoquine hydroxylase gene has been shown to be associated with the development of Parkinson's disease (PD). 9613747 1998
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.400 Biomarker disease CTD_human Although they are based on a small group of subjects with the joint exposure, our findings are consistent with a gene-environment interaction disease model according to which (1) pesticides have a modest effect in subjects who are not CYP2D6 poor metabolizers, (2) pesticides' effect is increased in poor metabolizers (approximately twofold), and (3) poor metabolizers are not at increased PD risk in the absence of pesticide exposure. 14991823 2004