MVD, mevalonate diphosphate decarboxylase, 4597

N. diseases: 101; N. variants: 11
Disease: Porokeratosis, Disseminated Superficial Actinic ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0265970
Disease: Porokeratosis, Disseminated Superficial Actinic
Porokeratosis, Disseminated Superficial Actinic 		0.310 GeneticVariation disease BEFREE Patients with disseminated superficial actinic porokeratosis (DSAP) and linear porokeratosis (LP) exhibit monoallelic germline mutations in genes encoding mevalonate pathway enzymes, such as MVD or MVK. 31207227 2019
CUI: C0265970
Disease: Porokeratosis, Disseminated Superficial Actinic
Porokeratosis, Disseminated Superficial Actinic 		0.310 GermlineCausalMutation disease ORPHANET Genomic variations of the mevalonate pathway in porokeratosis. 26202976 2015