Disease Term Disease ID Gene Symbol Classification References Source
Deficiency of mevalonate kinase C0342731 HMGCR Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 12477733 -
MVK Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 10369261, 12477733, 17596604, 18008182, 24073415, 27377765 -