Gene symbol and protein | Gene Location | All allelic disease phenotypes - locus/disease symbols |
CAV3 Caveolin 3       | 3p25.3 | * Long QT syndrome 9 - LQT9 (1.20, 4.12, 5.32, 6.6, 6.7, 10.144, 10.16)* Hyperckemia, idiopathic - (1.20, 4.12, 5.32, 6.6, 6.7, 10.144, 10.16)* Creatine phosphokinase, elevated serum - CPK (1.20, 4.12, 5.32, 6.6, 6.7, 10.144, 10.16)* Creatine phosphokinase, elevated serum (formerly HyperCKemia, iodiopathic) - (1.20, 4.12, 5.32, 6.6, 6.7, 10.144, 10.16)* cardiomyopathy, familial hypertrophic - CMH (1.20, 4.12, 5.32, 6.6, 6.7, 10.144, 10.16)* Rippling muscle disease - RMD2 (1.20, 4.12, 5.32, 6.6, 6.7, 10.144, 10.16)* Muscular dystrophy, limb-girdle, type IC - LGMD1C (1.20, 4.12, 5.32, 6.6, 6.7, 10.144, 10.16)* Myopathy distal, Tateyama type - MPDT (1.20, 4.12, 5.32, 6.6, 6.7, 10.144, 10.16) |