Gene table: search width pubmed_id = 27745833


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

protein
All allelic disease phenotypes - locus/disease symbols
Myofibrillar myopathy, PYRODX1 related - (AR)
5.9
27745833
PYROXD1 (12p12.1)
Pyridine nucleotidedisulphide oxidoreductase domain 1
* Early-onset myofibrillar myopathy with PYRODX1 defect