Gene table: search width pubmed_id = 23519211


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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 A12 - (AR)
2.29
23519211
POMK (8p11.21)
Protein-O-mannose kinase
* Congenital muscular dystrophy with hypoglycosylation of dystroglycan type A,12 - MDDGA12
* Muscular dystrophy-dystroglycanopathy (Limb-girdle), type C12 - MDDGC12