TWNK, twinkle mtDNA helicase, 56652

N. diseases: 245; N. variants: 41
Disease: PERRAULT SYNDROME 5 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4015307
Disease: PERRAULT SYNDROME 5
PERRAULT SYNDROME 5 		0.600 Biomarker disease GENOMICS_ENGLAND Mutations in Twinkle primase-helicase cause Perrault syndrome with neurologic features. 25355836 2014
CUI: C4015307
Disease: PERRAULT SYNDROME 5
PERRAULT SYNDROME 5 		0.600 GeneticVariation disease UNIPROT Mutations in Twinkle primase-helicase cause Perrault syndrome with neurologic features. 25355836 2014
CUI: C4015307
Disease: PERRAULT SYNDROME 5
PERRAULT SYNDROME 5 		0.600 Biomarker disease GENOMICS_ENGLAND A novel variation in the Twinkle linker region causing late-onset dementia. 19513767 2010
CUI: C4015307
Disease: PERRAULT SYNDROME 5
PERRAULT SYNDROME 5 		0.600 GeneticVariation disease CLINVAR
CUI: C4015307
Disease: PERRAULT SYNDROME 5
PERRAULT SYNDROME 5 		0.600 CausalMutation disease CLINVAR