Gene symbol and protein
Gene Location
All allelic disease phenotypes - locus/disease symbols
CAV3
Caveolin 3




3p25
* Distal myopathy related to caveolin - (1.15, 4.11, 5.20, 6.6, 6.7, 10.110, 10.16)
* Long QT syndrome 9 - LQT9 (1.15, 4.11, 5.20, 6.6, 6.7, 10.110, 10.16)
* Hyperckemia, idiopathic - (1.15, 4.11, 5.20, 6.6, 6.7, 10.110, 10.16)
* Creatine phosphokinase, elevated serum - CPK (1.15, 4.11, 5.20, 6.6, 6.7, 10.110, 10.16)
* cardiomyopathy, familial hypertrophic - CMH (1.15, 4.11, 5.20, 6.6, 6.7, 10.110, 10.16)
* Rippling muscle disease - RMD2 (1.15, 4.11, 5.20, 6.6, 6.7, 10.110, 10.16)
* Muscular dystrophy, limb-girdle, type IC - LGMD1C (1.15, 4.11, 5.20, 6.6, 6.7, 10.110, 10.16)