POLG, DNA polymerase gamma, catalytic subunit, 5428

N. diseases: 462; N. variants: 173
Disease: Ataxia, Spinocerebellar ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs201477273
rs201477273
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0087012
Disease:
Ataxia, Spinocerebellar 		A 0.700 CausalMutation CLINVAR Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. 28492532 2017
dbSNP: rs201477273
rs201477273
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0087012
Disease:
Ataxia, Spinocerebellar 		A 0.700 CausalMutation CLINVAR Diagnostic utility of whole exome sequencing in patients showing cerebellar and/or vermis atrophy in childhood. 24091540 2013
dbSNP: rs201477273
rs201477273
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0087012
Disease:
Ataxia, Spinocerebellar 		A 0.700 CausalMutation CLINVAR Mitochondrial DNA polymerase gamma mutations: an ever expanding molecular and clinical spectrum. 21880868 2011
dbSNP: rs201477273
rs201477273
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0087012
Disease:
Ataxia, Spinocerebellar 		A 0.700 CausalMutation CLINVAR Purification and functional characterization of human mitochondrial DNA polymerase gamma harboring disease mutations. 20176107 2010
dbSNP: rs201477273
rs201477273
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0087012
Disease:
Ataxia, Spinocerebellar 		A 0.700 CausalMutation CLINVAR R964C mutation of DNA polymerase gamma imparts increased stavudine toxicity by decreasing nucleoside analog discrimination and impairing polymerase activity. 19364868 2009
dbSNP: rs201477273
rs201477273
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0087012
Disease:
Ataxia, Spinocerebellar 		A 0.700 CausalMutation CLINVAR A variable neurodegenerative phenotype with polymerase gamma mutation. 19762913 2009
dbSNP: rs201477273
rs201477273
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0087012
Disease:
Ataxia, Spinocerebellar 		A 0.700 CausalMutation CLINVAR Molecular and clinical genetics of mitochondrial diseases due to POLG mutations. 18546365 2008