Gene table: search width pubmed_id = 23217329


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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 A10 - (AR)
2.27
23217329
RXYLT1 (12q14.2)
Ribitol xylosyltransferase 1 (transmembrane protein 5)
* Congenital muscular dystrophy with hypoglycosylation of dystroglycan type A10 - MDGGA10