Gene table: search width pubmed_id = 16135556


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Disease phenotype
Item
in
this
table
Key
references
Gene symbol (chromosome)

protein
All allelic disease phenotypes - locus/disease symbols
Mitochondrial DNA depletion syndrome 7 (hepatocerebral type) - (AR)
13.60
16135556
9027505
TWNK (10q23.-q24.1)
Twinkle mtDNA helicase
* Spinocerebellar ataxia, infantile-onset, with sensory neuropathy - IOSCA
* Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal - PEO3A