Gene table: search width pubmed_id = 12654965


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

protein
All allelic disease phenotypes - locus/disease symbols
Congenital muscular dystrophy with hypoglycosylation of dystroglycan - (AR)
2.31
11592034
12654965
19299310
FKRP (19q13.32)
Fukutin-related protein
* Walker-Warburg syndrome - WWS
* Muscle-eye-brain disease - MEB
* Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), - MDDGA5
* Muscular dystrophy-dystroglycanopathy (congenital with or without mental retarda - MDDGB5
* Muscular dystrophy, limb-girdle, type 2I - LGMD2I