Gene table: search width pubmed_id = 30515627


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

protein
All allelic disease phenotypes - locus/disease symbols
LGMD related to PYROXD1 - (AR)
1.60
30515627
PYROXD1 (12p12.1)
Pyridine nucleotidedisulphide oxidoreductase domain 1
* Early-onset myofibrillar myopathy with PYRODX1 defect
* LGMD related to PYROXD1
* Congenital Myopathy related to PYROXD1