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 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 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 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 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 GeneticVariation disease UNIPROT Perturbations of model membranes induced by pathogenic dynorphin A mutants causing neurodegeneration in human brain. 21712028 2011
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 UNIPROT Prodynorphin mutations cause the neurodegenerative disorder spinocerebellar ataxia type 23. 21035104 2010
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 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 GeneticVariation disease CLINVAR
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: C0001973
Disease: Alcoholic Intoxication, Chronic
Alcoholic Intoxication, Chronic
0.600 GeneticVariation disease BEFREE PDYN downregulation was confined to subgroup of subjects carrying C, a high-risk allele of PDYN promoter SNP rs1997794 associated with alcoholism. 29925858 2018
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 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 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 Biomarker disease BEFREE 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 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 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
CUI: C0001973
Disease: Alcoholic Intoxication, Chronic
Alcoholic Intoxication, Chronic
0.600 Biomarker disease BEFREE 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
CUI: C0001973
Disease: Alcoholic Intoxication, Chronic
Alcoholic Intoxication, Chronic
0.600 Biomarker disease PSYGENET Different alcohol exposures induce selective alterations on the expression of dynorphin and nociceptin systems related genes in rat brain. 21507157 2013
CUI: C0001973
Disease: Alcoholic Intoxication, Chronic
Alcoholic Intoxication, Chronic
0.600 Biomarker disease PSYGENET 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