MVD, mevalonate diphosphate decarboxylase, 4597

N. diseases: 101; N. variants: 11
Disease: Porokeratosis, Linear ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0302319
Disease: Porokeratosis, Linear
Porokeratosis, Linear 		0.320 Biomarker disease GENOMICS_ENGLAND Second-Hit, Postzygotic PMVK and MVD Mutations in Linear Porokeratosis. 30942823 2019
CUI: C0302319
Disease: Porokeratosis, Linear
Porokeratosis, Linear 		0.320 GeneticVariation disease BEFREE Second-Hit, Postzygotic PMVK and MVD Mutations in Linear Porokeratosis. 30942823 2019
CUI: C0302319
Disease: Porokeratosis, Linear
Porokeratosis, Linear 		0.320 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