Gene table: search width pubmed_id = 10521314


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

protein
All allelic disease phenotypes - locus/disease symbols
Spinal muscular atrophy, distal autosomal recessive 1 ( with respiratory distress) - (AR)
12.5
10521314
IGHMBP2 (11q13.2-q13.4)
Immunoglobulin mu binding protein 2
* Spinal muscular atrophy with respiratory distress - SMARD1
* Autosomal recessive CMT axonal type 2S - CMT2S