Protein | Gene Symbol | All allelic disease phenotypes - locus/disease symbols |
O-linked mannose beta1,2-N-acetylglucosaminyltransferase | | * Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), - MDDGA3 (1.45, 2.21, 2.35)
* Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type - MDDGB3 (1.45, 2.21, 2.35)
* Limb-girdle, muscular dystrophy, type 2o - LGMD2O (1.45, 2.21, 2.35)
* Muscular dystrophy, limb-girdle, autosomal recessive 15 - LGMDR15 (1.45, 2.21, 2.35)
|
optic atrophy 1(M) | | * Progressive external ophthalmoplegia with optic atrophy, optic atrophy 1 with deafness - (16.20, 16.21)
* Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type) - MTDPS14 (16.20, 16.21)
| Optineurin | | * Amyotrophic lateral sclerosis 12 - ALS12 (12.65)
| ORAI calcium release-activated calcium modulator 1 | | * Tubular aggregate myopathy 2 - TAM2 (5.42)
|