TWNK, twinkle mtDNA helicase, 56652

N. diseases: 245; N. variants: 41
Disease: Impaired body position sense ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0576690
Disease: Impaired body position sense
Impaired body position sense 		0.100 CausalMutation phenotype CLINVAR Infantile onset spinocerebellar ataxia caused by compound heterozygosity for Twinkle mutations and modeling of Twinkle mutations causing recessive disease. 27551684 2016
CUI: C0576690
Disease: Impaired body position sense
Impaired body position sense 		0.100 GeneticVariation phenotype CLINVAR Infantile onset spinocerebellar ataxia caused by compound heterozygosity for Twinkle mutations and modeling of Twinkle mutations causing recessive disease. 27551684 2016