Gene: TWNK ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 56652
Gene Symbol: TWNK
TWNK 		0.700 Biomarker disease GENOMICS_ENGLAND Twinkle-Associated Mitochondrial DNA Depletion. 30391088 2019
Entrez Id: 56652
Gene Symbol: TWNK
TWNK 		0.700 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
Entrez Id: 56652
Gene Symbol: TWNK
TWNK 		0.700 GeneticVariation disease CLINVAR Longitudinal clinical follow-up of a large family with the R357P Twinkle mutation. 24018892 2013
Entrez Id: 56652
Gene Symbol: TWNK
TWNK 		0.700 GeneticVariation disease UNIPROT TWINKLE gene mutation: report of a French family with an autosomal dominant progressive external ophthalmoplegia and literature review. 20880070 2011
Entrez Id: 56652
Gene Symbol: TWNK
TWNK 		0.700 GeneticVariation disease CLINVAR Disease variants of the human mitochondrial DNA helicase encoded by C10orf2 differentially alter protein stability, nucleotide hydrolysis, and helicase activity. 20659899 2010
Entrez Id: 56652
Gene Symbol: TWNK
TWNK 		0.700 GeneticVariation disease CLINVAR The clinical, histochemical, and molecular spectrum of PEO1 (Twinkle)-linked adPEO. 20479361 2010
Entrez Id: 56652
Gene Symbol: TWNK
TWNK 		0.700 Biomarker disease GENOMICS_ENGLAND A novel variation in the Twinkle linker region causing late-onset dementia. 19513767 2010
Entrez Id: 56652
Gene Symbol: TWNK
TWNK 		0.700 GeneticVariation disease UNIPROT The clinical, histochemical, and molecular spectrum of PEO1 (Twinkle)-linked adPEO. 20479361 2010
Entrez Id: 56652
Gene Symbol: TWNK
TWNK 		0.700 GeneticVariation disease UNIPROT Finding twinkle in the eyes of a 71-year-old lady: a case report and review of the genotypic and phenotypic spectrum of TWINKLE-related dominant disease. 19353676 2009
Entrez Id: 56652
Gene Symbol: TWNK
TWNK 		0.700 GeneticVariation disease UNIPROT Molecular analysis in a family presenting with a mild form of late-onset autosomal dominant chronic progressive external ophthalmoplegia. 19428252 2009
Entrez Id: 56652
Gene Symbol: TWNK
TWNK 		0.700 GeneticVariation disease UNIPROT Novel Twinkle (PEO1) gene mutations in mendelian progressive external ophthalmoplegia. 18575922 2008
Entrez Id: 56652
Gene Symbol: TWNK
TWNK 		0.700 GeneticVariation disease UNIPROT Phenotype and clinical course in a family with a new de novo Twinkle gene mutation. 18396044 2008
Entrez Id: 56652
Gene Symbol: TWNK
TWNK 		0.700 GeneticVariation disease CLINVAR Mild ocular myopathy associated with a novel mutation in mitochondrial twinkle helicase. 17614277 2007
Entrez Id: 56652
Gene Symbol: TWNK
TWNK 		0.700 GeneticVariation disease UNIPROT Mild ocular myopathy associated with a novel mutation in mitochondrial twinkle helicase. 17614277 2007
Entrez Id: 56652
Gene Symbol: TWNK
TWNK 		0.700 GeneticVariation disease UNIPROT Molecular analysis of ANT1, TWINKLE and POLG in patients with multiple deletions or depletion of mitochondrial DNA by a dHPLC-based assay. 16639411 2006
Entrez Id: 56652
Gene Symbol: TWNK
TWNK 		0.700 GeneticVariation disease UNIPROT Sensory ataxic neuropathy due to a novel C10Orf2 mutation with probable germline mosaicism. 15668446 2005
Entrez Id: 56652
Gene Symbol: TWNK
TWNK 		0.700 GeneticVariation disease UNIPROT A novel Twinkle gene mutation in autosomal dominant progressive external ophthalmoplegia. 12921794 2003
Entrez Id: 56652
Gene Symbol: TWNK
TWNK 		0.700 GeneticVariation disease UNIPROT Clinical and molecular features of adPEO due to mutations in the Twinkle gene. 12163192 2002
Entrez Id: 56652
Gene Symbol: TWNK
TWNK 		0.700 GeneticVariation disease UNIPROT Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria. 11431692 2001
Entrez Id: 56652
Gene Symbol: TWNK
TWNK 		0.700 Biomarker disease CTD_human
Entrez Id: 56652
Gene Symbol: TWNK
TWNK 		0.700 CausalMutation disease CLINVAR
Entrez Id: 56652
Gene Symbol: TWNK
TWNK 		0.700 Biomarker disease GENOMICS_ENGLAND