Gene table



Gene symbol and protein
Gene Location
All allelic disease phenotypes - locus/disease symbols

OPA1
optic atrophy 1(M)



3q28-q29
* Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type) - MTDPS14 (16.57, 16.59)
* Progressive external ophthalmoplegia with optic atrophy, optic atrophy 1 with deafness - (16.57, 16.59)

OPTN
Optineurin



10p14
* Amyotrophic lateral sclerosis 12 - ALS12 (12.55)

ORAI1
ORAI calcium release-activated calcium modulator 1



12q24.31
* Tubular aggregate myopathy 2 - TAM2 (5.34)
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