TRPV4
transient receptor potential cation channel subfamily V member 4
Ассоциированные заболевания
Герминативная мутация (причина)6
Metatropic dysplasiaORPHA:2635
→Autosomal dominant congenital benign spinal muscular atrophyORPHA:1216
→Spondyloepimetaphyseal dysplasia, Maroteaux typeORPHA:263482
→Scapuloperoneal spinal muscular atrophyORPHA:431255
→Spondylometaphyseal dysplasia, Kozlowski typeORPHA:93314
→Autosomal dominant Charcot-Marie-Tooth disease type 2CORPHA:99937
→Disease-causing germline mutation(s) (gain of function) in2
Disease-causing germline mutation(s) (loss of function) in1