Gene table: search width pubmed_id = 17701900


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

protein
All allelic disease phenotypes - locus/disease symbols
Charcot-Marie-Tooth neuropathy X-linked 5 (with hearing loss and optic neuropathy) - (XR)
14.47
17701900
PRPS1 (Xq21.32-q24)
Phosphoribosyl pyrophosphate synthetase 1
* charcot-marie-tooth disease, x-linked recessive, 5 - CMTX5