rs80356544, TWNK

N. diseases: 1
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Infantile onset spinocerebellar ataxia
CUI: C1849096
Disease: Infantile onset spinocerebellar ataxia
0.800 GeneticVariation UNIPROT Identification of a novel Twinkle mutation in a family with infantile onset spinocerebellar ataxia by whole exome sequencing. 22353293 2012
Infantile onset spinocerebellar ataxia
CUI: C1849096
Disease: Infantile onset spinocerebellar ataxia
0.800 GeneticVariation UNIPROT Novel Twinkle gene mutation in autosomal dominant progressive external ophthalmoplegia and multisystem failure. 19853444 2009
Infantile onset spinocerebellar ataxia
CUI: C1849096
Disease: Infantile onset spinocerebellar ataxia
0.800 GeneticVariation UNIPROT Twinkle helicase (PEO1) gene mutation causes mitochondrial DNA depletion. 17722119 2007
Infantile onset spinocerebellar ataxia
CUI: C1849096
Disease: Infantile onset spinocerebellar ataxia
0.800 GeneticVariation UNIPROT Recessive Twinkle mutations in early onset encephalopathy with mtDNA depletion. 17921179 2007
Infantile onset spinocerebellar ataxia
CUI: C1849096
Disease: Infantile onset spinocerebellar ataxia
0.800 GeneticVariation UNIPROT Infantile onset spinocerebellar ataxia is caused by recessive mutations in mitochondrial proteins Twinkle and Twinky. 16135556 2005
Infantile onset spinocerebellar ataxia
CUI: C1849096
Disease: Infantile onset spinocerebellar ataxia
0.800 CausalMutation CLINVAR