TWNK, twinkle mtDNA helicase, 56652

N. diseases: 245; N. variants: 41
Disease: Congenital pes cavus ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0728829
Disease: Congenital pes cavus
Congenital pes cavus 		0.100 GeneticVariation disease CLINVAR Infantile onset spinocerebellar ataxia caused by compound heterozygosity for Twinkle mutations and modeling of Twinkle mutations causing recessive disease. 27551684 2016
CUI: C0728829
Disease: Congenital pes cavus
Congenital pes cavus 		0.100 CausalMutation disease CLINVAR Infantile onset spinocerebellar ataxia caused by compound heterozygosity for Twinkle mutations and modeling of Twinkle mutations causing recessive disease. 27551684 2016