Gene table: search width pubmed_id = 16575835


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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 brain and eyes anomlies), type A1 - (AR)
2.18
12369018
16575835
19299310
POMT1 (9q34.1)
Protein-O-mannosyltransferase 1
* Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), - MDDGA1
* Muscular dystrophy, Limb-Girdle, type 2K - LGMD2K
* Muscular dystrophy-dystrooglycanopathy (congenital with mental retardation), type B1 - MDDGB1
* Walker-Warburg syndrome - WWS