rs387906905, TRPV4

N. diseases: 10
Disease: Scapuloperoneal Form of Spinal Muscular Atrophy ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Scapuloperoneal Form of Spinal Muscular Atrophy
CUI: C0751335
Disease: Scapuloperoneal Form of Spinal Muscular Atrophy
0.010 GeneticVariation BEFREE We report the first Italian family with SPSMA, harboring the c.806G>A mutation in TRPV4 gene (p. R269H). 26948711 2017