Gene table: search width pubmed_id = 8872481


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

protein
All allelic disease phenotypes - locus/disease symbols
Scapuloperoneal spinal muscular atrophy - (AD)
12.11
20037587
8872481
TRPV4 (12q23-q24)
Transient receptor potential cation channel, subfamily V, member 4
* Scapuloperoneal spinal muscular atrophy - SPSMA
* Neuronopathy, distal hereditary motor, type VIII - HMN8
* Spinal muscular atrophy congenital non progressive of lower limbs - SMAL
* Spinal muscular atrophy, congenital benin, with contractures - SMAL