TWNK, twinkle mtDNA helicase, 56652

N. diseases: 245; N. variants: 41
Disease: Ophthalmoplegia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0029089
Disease: Ophthalmoplegia
Ophthalmoplegia 		0.110 GeneticVariation phenotype CLINVAR Infantile onset spinocerebellar ataxia caused by compound heterozygosity for Twinkle mutations and modeling of Twinkle mutations causing recessive disease. 27551684 2016
CUI: C0029089
Disease: Ophthalmoplegia
Ophthalmoplegia 		0.110 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: C0029089
Disease: Ophthalmoplegia
Ophthalmoplegia 		0.110 GeneticVariation phenotype LHGDN Phenotype and clinical course in a family with a new de novo Twinkle gene mutation. 18396044 2008
CUI: C0029089
Disease: Ophthalmoplegia
Ophthalmoplegia 		0.110 Biomarker phenotype HPO