Disease Annotation

Gene Info

  • Species: Human (Homo sapiens)
  • GeneID: 56652
  • Symbol: TWNK
  • Description: twinkle mtDNA helicase

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Disease_Term Source Rank Other Values
Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), 271245 (3) OMIM high
  • Genome region : 10q24.31
  • OMIM_ID : 271245 OMIM phenotype ID
  • OMIM_ID : 606075 OMIM gene ID
Perrault syndrome 5, 616138 (3) OMIM high
  • Genome region : 10q24.31
  • OMIM_ID : 606075 OMIM gene ID
  • OMIM_ID : 616138 OMIM phenotype ID
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, 609286 (3) OMIM high
  • Genome region : 10q24.31
  • OMIM_ID : 606075 OMIM gene ID
  • OMIM_ID : 609286 OMIM phenotype ID