Gene table: search width pubmed_id = 12588800


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

protein
All allelic disease phenotypes - locus/disease symbols
Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B3 - (AR)
2.34
11709191
12588800
POMGNT1 (1p34.1)
O-linked mannose beta1,2-N-acetylglucosaminyltransferase
* Limb-girdle, muscular dystrophy, type 2o - LGMD2O
* Muscular dystrophy, limb-girdle, autosomal recessive 15 - LGMDR15
* Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type - MDDGB3
* Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), - MDDGA3