Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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
CUI: C0021704
Disease: Intelligence
Intelligence
0.100 GeneticVariation phenotype GWASCAT A combined analysis of genetically correlated traits identifies 187 loci and a role for neurogenesis and myelination in intelligence. 29326435 2019
CUI: C0021704
Disease: Intelligence
Intelligence
0.100 GeneticVariation phenotype GWASCAT Pleiotropic Meta-Analysis of Cognition, Education, and Schizophrenia Differentiates Roles of Early Neurodevelopmental and Adult Synaptic Pathways. 31374203 2019
CUI: C0021704
Disease: Intelligence
Intelligence
0.100 GeneticVariation phenotype GWASCAT Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function. 29844566 2018
CUI: C0021704
Disease: Intelligence
Intelligence
0.100 GeneticVariation phenotype GWASCAT Genome-wide association meta-analysis of 78,308 individuals identifies new loci and genes influencing human intelligence. 28530673 2017
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.100 GeneticVariation disease 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
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.100 GeneticVariation disease GWASCAT Pleiotropic Meta-Analysis of Cognition, Education, and Schizophrenia Differentiates Roles of Early Neurodevelopmental and Adult Synaptic Pathways. 31374203 2019
CUI: C0596887
Disease: mathematical ability
mathematical ability
0.100 GeneticVariation phenotype GWASCAT Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals. 30038396 2018
CUI: C0684328
Disease: Reasoning
Reasoning
0.100 GeneticVariation phenotype GWASCAT Genome-wide association study of cognitive functions and educational attainment in UK Biobank (N=112 151). 27046643 2016
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.040 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
0.040 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
0.040 GeneticVariation disease BEFREE Multivariate logistic regression analysis revealed that heterozygous genotypes of cytochrome P4502D6*4(CYP2D6*4), CYP2E1*5B (RsaI) polymorphism and homozygous mutant genotypes of CYP2E1*6 (Dra1) were found to be overrepresented in PD cases when compared to the controls. 18327668 2008
CUI: C0019196
Disease: Hepatitis C
Hepatitis C
0.020 GeneticVariation 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: C0242379
Disease: Malignant neoplasm of lung
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: 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 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: 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: C0752347
Disease: Lewy Body Disease
Lewy Body Disease
0.020 GeneticVariation disease BEFREE The expression patterns of alternatively spliced forms of the CYP2D (6, 7, 7A, 7B) gene were analyzed in the brains of individuals with Lewy body disease (LBD) and correlated with CYP2D6 polymorphisms. 10534269 1999
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: 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: C0001824
Disease: Agranulocytosis
Agranulocytosis
0.010 GeneticVariation disease BEFREE Clozapine-induced agranulocytosis and hereditary polymorphisms of clozapine metabolizing enzymes: no association with myeloperoxidase and cytochrome P4502D6. 11147929 2000
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: 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: 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