PDYN, prodynorphin, 5173

N. diseases: 197; N. variants: 13
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1853250
Disease: SPINOCEREBELLAR ATAXIA 23
SPINOCEREBELLAR ATAXIA 23 		0.740 Biomarker disease GENOMICS_ENGLAND Prodynorphin mutations cause the neurodegenerative disorder spinocerebellar ataxia type 23. 21035104 2010
CUI: C1853250
Disease: SPINOCEREBELLAR ATAXIA 23
SPINOCEREBELLAR ATAXIA 23 		0.740 GermlineCausalMutation disease ORPHANET
CUI: C1853250
Disease: SPINOCEREBELLAR ATAXIA 23
SPINOCEREBELLAR ATAXIA 23 		0.740 CausalMutation disease CLINVAR
CUI: C1853250
Disease: SPINOCEREBELLAR ATAXIA 23
SPINOCEREBELLAR ATAXIA 23 		0.740 Biomarker disease BEFREE In this study we aimed to assess the frequency of PDYN gene defects and extend the phenotype of SCA23 patients in a UK ataxia series and also in patients from Greece, Egypt and India. 23108490 2013
CUI: C1853250
Disease: SPINOCEREBELLAR ATAXIA 23
SPINOCEREBELLAR ATAXIA 23 		0.740 GeneticVariation disease UNIPROT We have recently identified missense mutations in prodynorphin (PDYN), the precursor to dynorphin opioid peptides, as the cause for spinocerebellar ataxia (SCA23) in Dutch ataxia cases. 23471613 2013
CUI: C1853250
Disease: SPINOCEREBELLAR ATAXIA 23
SPINOCEREBELLAR ATAXIA 23 		0.740 GeneticVariation disease UNIPROT Prodynorphin mutations cause the neurodegenerative disorder spinocerebellar ataxia type 23. 21035104 2010
CUI: C1853250
Disease: SPINOCEREBELLAR ATAXIA 23
SPINOCEREBELLAR ATAXIA 23 		0.740 GeneticVariation disease CLINVAR
CUI: C1853250
Disease: SPINOCEREBELLAR ATAXIA 23
SPINOCEREBELLAR ATAXIA 23 		0.740 GeneticVariation disease BEFREE We previously identified four missense mutations in the prodynorphin gene that cause human neurodegenerative disorder spinocerebellar ataxia type 23 (SCA23). 22531488 2012
CUI: C1853250
Disease: SPINOCEREBELLAR ATAXIA 23
SPINOCEREBELLAR ATAXIA 23 		0.740 Biomarker disease GENOMICS_ENGLAND
CUI: C1853250
Disease: SPINOCEREBELLAR ATAXIA 23
SPINOCEREBELLAR ATAXIA 23 		0.740 Biomarker disease CTD_human
CUI: C1853250
Disease: SPINOCEREBELLAR ATAXIA 23
SPINOCEREBELLAR ATAXIA 23 		0.740 GeneticVariation disease UNIPROT In this study we aimed to assess the frequency of PDYN gene defects and extend the phenotype of SCA23 patients in a UK ataxia series and also in patients from Greece, Egypt and India. 23108490 2013
CUI: C1853250
Disease: SPINOCEREBELLAR ATAXIA 23
SPINOCEREBELLAR ATAXIA 23 		0.740 Biomarker disease GENOMICS_ENGLAND Prodynorphin mutations cause the neurodegenerative disorder spinocerebellar ataxia type 23. 21035104 2010
CUI: C1853250
Disease: SPINOCEREBELLAR ATAXIA 23
SPINOCEREBELLAR ATAXIA 23 		0.740 GeneticVariation disease BEFREE Prodynorphin mutations cause the neurodegenerative disorder spinocerebellar ataxia type 23. 21035104 2010
CUI: C1853250
Disease: SPINOCEREBELLAR ATAXIA 23
SPINOCEREBELLAR ATAXIA 23 		0.740 GeneticVariation disease BEFREE We have recently identified missense mutations in prodynorphin (PDYN), the precursor to dynorphin opioid peptides, as the cause for spinocerebellar ataxia (SCA23) in Dutch ataxia cases. 23471613 2013
CUI: C1853250
Disease: SPINOCEREBELLAR ATAXIA 23
SPINOCEREBELLAR ATAXIA 23 		0.740 GeneticVariation disease UNIPROT Perturbations of model membranes induced by pathogenic dynorphin A mutants causing neurodegeneration in human brain. 21712028 2011
CUI: C0001973
Disease: Alcoholic Intoxication, Chronic
Alcoholic Intoxication, Chronic 		0.600 GeneticVariation disease BEFREE The results suggest that no major influence on alcoholism is exerted through genes associated with this prodynorphin allelic marker. 9347097 1997
CUI: C0001973
Disease: Alcoholic Intoxication, Chronic
Alcoholic Intoxication, Chronic 		0.600 GeneticVariation disease BEFREE Thus, variations in the genes encoding both the kappa-opioid receptor and its ligand, OPRK1 and PDYN, are associated with the risk for alcohol dependence; this makes biological sense as variations in either should affect signaling through the kappa-opioid system. 16924269 2006
CUI: C0001973
Disease: Alcoholic Intoxication, Chronic
Alcoholic Intoxication, Chronic 		0.600 Biomarker disease PSYGENET In a nutshell, transition of a single nucleotide may modify differential DNA-protein interactions at OPRK1 and PDYN׳s SNPs, significantly associated with pathology that may lead to altered individual vulnerability for alcohol dependence. 25177835 2014
CUI: C0001973
Disease: Alcoholic Intoxication, Chronic
Alcoholic Intoxication, Chronic 		0.600 GeneticVariation disease BEFREE Our findings suggest that sex-dependent effects of PDYN variants in alcohol dependence are phenotype-specific. 26502829 2015
CUI: C0001973
Disease: Alcoholic Intoxication, Chronic
Alcoholic Intoxication, Chronic 		0.600 Biomarker disease PSYGENET Fifteen percent (n=151) of the sample met DSM-IV criteria for alcohol dependence and while results did not support an association between the PDYN polymorphism and the diagnosis of alcohol dependence, we did observe an association between the "low" expressing L allele of the PDYN gene and a preference for engaging in disinhibited behavior. 21736916 2011
CUI: C0001973
Disease: Alcoholic Intoxication, Chronic
Alcoholic Intoxication, Chronic 		0.600 GeneticVariation disease BEFREE Association with alcoholism was observed for rs2235751 and the presence of the minor allele G was associated with reduced DNA methylation at PDYN promoter in females and younger subjects. 28336495 2017
CUI: C0001973
Disease: Alcoholic Intoxication, Chronic
Alcoholic Intoxication, Chronic 		0.600 GeneticVariation disease BEFREE These findings support the hypothesis that sequence variation in the PDYN gene contributes to both alcohol dependence and the induction of negative craving in alcohol-dependent subjects. 23101464 2013
CUI: C0001973
Disease: Alcoholic Intoxication, Chronic
Alcoholic Intoxication, Chronic 		0.600 GeneticVariation disease BEFREE Prodynorphin promoter SNP associated with alcohol dependence forms noncanonical AP-1 binding site that may influence gene expression in human brain. 21338584 2011
CUI: C0001973
Disease: Alcoholic Intoxication, Chronic
Alcoholic Intoxication, Chronic 		0.600 Biomarker disease BEFREE Three PDYN CpG-SNPs associated with alcoholism were found to be differently methylated in the human brain. 21521424 2011
CUI: C0001973
Disease: Alcoholic Intoxication, Chronic
Alcoholic Intoxication, Chronic 		0.600 Biomarker disease PSYGENET Thus, the data obtained suggest no association of the selected polymorphisms of the genes OPRM1/POMC and OPRK1/PDYN with alcoholism in Croatian population. 24035285 2013