Gene table: search width pubmed_id = 20697106


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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, lower extremity-predominant, autosomal dominant 1 - (AD)
12.40
20697106
22459677
DYNC1H1 (14q32.31)
Dynein, cytoplasmic 1, heavy chain 1
* Charcot-Marie-Tooth disease, axonal, type 20 - CMT2O
* Spinal muscular atrophy, lower extremity, autosomal dominant - SMALED