Gene table: search width pubmed_id = 28220527


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

protein
All allelic disease phenotypes - locus/disease symbols
Congenital Myopathy related to PYROXD1 - (AR)
3.59
28220527
PYROXD1 (12p12.1)
Pyridine nucleotidedisulphide oxidoreductase domain 1
* Early-onset myofibrillar myopathy with PYRODX1 defect
* LGMD related to PYROXD1
* Congenital Myopathy related to PYROXD1