Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 56652
Gene Symbol: TWNK
TWNK
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		0.200 CausalMutation CLINVAR Infantile onset spinocerebellar ataxia caused by compound heterozygosity for Twinkle mutations and modeling of Twinkle mutations causing recessive disease. 27551684

2016
Entrez Id: 56652
Gene Symbol: TWNK
TWNK
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		0.200 GeneticVariation CLINVAR Infantile onset spinocerebellar ataxia caused by compound heterozygosity for Twinkle mutations and modeling of Twinkle mutations causing recessive disease. 27551684

2016