DISEASES

Disease-gene associations mined from literature

Human genes for isolated elevated serum creatine phosphokinase levels

Isolated elevated serum creatine phosphokinase levels [DOID:0111338]

An inherited metabolic disorder characterized by elevated serum creatine kinase levels in the absence of muscle weakness or other symptoms that has_material_basis_in in some cases in heterozygous mutation in CAV3 on chromosome 3p25.3.

Synonyms:  isolated elevated serum creatine phosphokinase levels,  DOID:0111338,  isolated elevated serum creatine phosphokinase levelses,  elevated serum CPK,  idiopathic hyperCKemia ...