Gene table: search width pubmed_id = 18065439


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

protein
All allelic disease phenotypes - locus/disease symbols
Optic atrophy with or without deafness, ophtalmoplegia, myopathy, ataxia and neuropathy - (AD)
16.21
18065439
18158317
OPA1 (3q28-q29)
optic atrophy 1(M)
* Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type) - MTDPS14
* Progressive external ophthalmoplegia with optic atrophy, optic atrophy 1 with deafness