MVD, mevalonate diphosphate decarboxylase, 4597

N. diseases: 101; N. variants: 11
Disease: Porokeratosis of Mibelli ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0949506
Disease: Porokeratosis of Mibelli
Porokeratosis of Mibelli 		0.020 GeneticVariation disease BEFREE Clonal Expansion of Second-Hit Cells with Somatic Recombinations or C>T Transitions Form Porokeratosis in MVD or MVK Mutant Heterozygotes. 31207227 2019
CUI: C0949506
Disease: Porokeratosis of Mibelli
Porokeratosis of Mibelli 		0.020 Biomarker disease BEFREE Mutation of four genes in this pathway, including mevalonate kinase, phosphomevalonate kinase, mevalonate diphosphate decarboxylase and farnesyl diphosphate synthase, have demonstrated to be responsible for porokeratosis (PK). 28765912 2017