Gene table: search width pubmed_id = 9781046


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

protein
All allelic disease phenotypes - locus/disease symbols
Neuronopathy, distal hereditary motor, autosomal dominant 8 - ( AD)
12.31
20037587
20037588
9781046
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