Gene product table



Protein
Gene Symbol
All allelic disease phenotypes - locus/disease symbols
O-linked mannose beta1,2-N-acetylglucosaminyltransferase
POMGNT1 (1p34.1)


* Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), - MDDGA3 (1.48, 2.20, 2.34)
* Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type - MDDGB3 (1.48, 2.20, 2.34)
* Limb-girdle, muscular dystrophy, type 2o - LGMD2O (1.48, 2.20, 2.34)
* Muscular dystrophy, limb-girdle, autosomal recessive 15 - LGMDR15 (1.48, 2.20, 2.34)
optic atrophy 1(M)
OPA1 (3q28-q29)

* Progressive external ophthalmoplegia with optic atrophy, optic atrophy 1 with deafness - (16.58, 16.60)
* Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type) - MTDPS14 (16.58, 16.60)
Optineurin
OPTN (10p14)


* Amyotrophic lateral sclerosis 12 - ALS12 (12.63)
ORAI calcium release-activated calcium modulator 1
ORAI1 (12q24.31)


* Tubular aggregate myopathy 2 - TAM2 (5.41)