PDYN, prodynorphin, 5173

N. diseases: 197; N. variants: 13
Disease: SPINOCEREBELLAR ATAXIA 23 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs267606940
rs267606940
Entrez Id: 5173;727993
Gene Symbol: PDYN;PDYN-AS1
PDYN;PDYN-AS1
CUI: C1853250
Disease:
SPINOCEREBELLAR ATAXIA 23 		0.800 GeneticVariation UNIPROT The frequency of spinocerebellar ataxia type 23 in a UK population. 23108490 2013
dbSNP: rs267606940
rs267606940
Entrez Id: 5173;727993
Gene Symbol: PDYN;PDYN-AS1
PDYN;PDYN-AS1
CUI: C1853250
Disease:
SPINOCEREBELLAR ATAXIA 23 		0.800 GeneticVariation UNIPROT Identification and characterization of novel PDYN mutations in dominant cerebellar ataxia cases. 23471613 2013
dbSNP: rs267606940
rs267606940
Entrez Id: 5173;727993
Gene Symbol: PDYN;PDYN-AS1
PDYN;PDYN-AS1
CUI: C1853250
Disease:
SPINOCEREBELLAR ATAXIA 23 		0.800 GeneticVariation UNIPROT Perturbations of model membranes induced by pathogenic dynorphin A mutants causing neurodegeneration in human brain. 21712028 2011
dbSNP: rs267606940
rs267606940
Entrez Id: 5173;727993
Gene Symbol: PDYN;PDYN-AS1
PDYN;PDYN-AS1
CUI: C1853250
Disease:
SPINOCEREBELLAR ATAXIA 23 		0.800 GeneticVariation UNIPROT Prodynorphin mutations cause the neurodegenerative disorder spinocerebellar ataxia type 23. 21035104 2010
dbSNP: rs267606940
rs267606940
Entrez Id: 5173;727993
Gene Symbol: PDYN;PDYN-AS1
PDYN;PDYN-AS1
CUI: C1853250
Disease:
SPINOCEREBELLAR ATAXIA 23 		0.800 GeneticVariation UNIPROT EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias. 20050888 2010
dbSNP: rs267606940
rs267606940
Entrez Id: 5173;727993
Gene Symbol: PDYN;PDYN-AS1
PDYN;PDYN-AS1
CUI: C1853250
Disease:
SPINOCEREBELLAR ATAXIA 23 		G 0.800 CausalMutation CLINVAR