rs104895297, MVK

N. diseases: 3
Disease: Deficiency of mevalonate kinase ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Deficiency of mevalonate kinase
CUI: C0342731
Disease: Deficiency of mevalonate kinase
0.010 GeneticVariation BEFREE Two patients had paired mutations in the MVK gene (genotypes V377I/V377I and V377I/S135L) and displayed typical features of BD and MKD. 17213252 2007