Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 859
Gene Symbol: CAV3
CAV3
0.120 GeneticVariation phenotype BEFREE CAV3 mutation in a patient with transient hyperCKemia and myalgia. 27772553 2017
Entrez Id: 859
Gene Symbol: CAV3
CAV3
0.120 GeneticVariation phenotype BEFREE Here we report on a 4-year-old girl presenting with myalgia and muscle cramps due to a caveolin-3 deficiency in her dystrophic skeletal muscle as a result of a heterozygous 136G-->A substitution in the caveolin-3 gene. 11001938 2000
Entrez Id: 859
Gene Symbol: CAV3
CAV3
0.120 Biomarker phenotype HPO