Disease Term Disease ID Gene Symbol Classification References Source
Metabolic myopathy C0270984 ACADVL Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 25929793 -
CPT2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 8651281 -
Metabolic myopathy due to lactate transporter defect 171690 SLC16A1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -