| Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.370 | 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 | ||||
|
0.370 | Biomarker | disease | BEFREE | Subsequently, the mevalonate kinase gene (MVK) was shown to be pathogenic in DSAP. | 30597534 | 2019 | ||||
|
0.370 | GeneticVariation | disease | BEFREE | Direct DNA sequencing analysis of the whole coding regions of MVK detected three MVK missense mutations, and two were novel for DSAP: c.31C>T (P11S) and c.1004G>A (G335D). | 26794421 | 2016 | ||||
|
0.370 | GermlineCausalMutation | disease | ORPHANET | Genomic variations of the mevalonate pathway in porokeratosis. | 26202976 | 2015 | ||||
|
0.370 | Biomarker | disease | BEFREE | Disseminated superficial actinic porokeratosis (DSAP) is a severe chronic autosomal dominant cutaneous disorder with high genetic heterogeneity. mevalonate kinase, (MVK) a gene know to play an important role in regulation of calcium-induced keratinocyte differentiation and proliferation, has recently been suggested as the disease-causing gene for DSAP. | 25059119 | 2014 | ||||
|
0.370 | GeneticVariation | disease | BEFREE | The recruited with DSAP carried no MVK coding mutations. | 25180256 | 2014 | ||||
|
0.370 | GeneticVariation | disease | BEFREE | Here, we report identification of a novel missense mutation in the MVK gene in a Chinese family with DSAP. | 24551296 | 2014 | ||||
|
0.370 | GeneticVariation | disease | BEFREE | Disseminated superficial actinic porokeratosis (DSAP) is the most common subtype of porokeratosis with genetic heterogeneities, and mevalonate kinase gene (MVK) mutations have been identified in minor portion of DSAP families of Chinese origin. | 24781643 | 2014 | ||||
|
0.370 | GermlineCausalMutation | disease | ORPHANET | Exome sequencing identifies MVK mutations in disseminated superficial actinic porokeratosis. | 22983302 | 2012 |