Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4598
Gene Symbol: MVK
MVK 		0.800 GeneticVariation disease BEFREE The rare autoinflammatory disease mevalonate kinase deficiency (MKD, which includes HIDS and mevalonic aciduria) is caused by recessive, pathogenic variants in the <i>MVK</i> gene encoding mevalonate kinase. 31474985 2019
Entrez Id: 4598
Gene Symbol: MVK
MVK 		0.800 CausalMutation disease CLINVAR Mevalonate kinase deficiency associated with ataxia and retinitis pigmentosa in two brothers with MVK gene mutations. 28095071 2017
Entrez Id: 4598
Gene Symbol: MVK
MVK 		0.800 CausalMutation disease CLINVAR Treatment of adult hyper-IgD syndrome with canakinumab. 26116953 2016
Entrez Id: 4598
Gene Symbol: MVK
MVK 		0.800 Biomarker disease CTD_human Mevalonate kinase deficiency leads to decreased prenylation of Rab GTPases. 27377765 2016
Entrez Id: 4598
Gene Symbol: MVK
MVK 		0.800 Biomarker disease GENOMICS_ENGLAND Genetic studies in intellectual disability and related disorders. 26503795 2016
Entrez Id: 4598
Gene Symbol: MVK
MVK 		0.800 CausalMutation disease CLINVAR Molecular diagnostic experience of whole-exome sequencing in adult patients. 26633545 2016
Entrez Id: 4598
Gene Symbol: MVK
MVK 		0.800 CausalMutation disease CLINVAR Homozygosity for the V377I mutation in mevalonate kinase causes distinct clinical phenotypes in two sibs with hyperimmunoglobulinaemia D and periodic fever syndrome (HIDS). 26977311 2016
Entrez Id: 4598
Gene Symbol: MVK
MVK 		0.800 CausalMutation disease CLINVAR The Phenotype and Genotype of Mevalonate Kinase Deficiency: A Series of 114 Cases From the Eurofever Registry. 27213830 2016
Entrez Id: 4598
Gene Symbol: MVK
MVK 		0.800 Biomarker disease GENOMICS_ENGLAND Perinatal manifestation of mevalonate kinase deficiency and efficacy of anakinra. 27012807 2016
Entrez Id: 4598
Gene Symbol: MVK
MVK 		0.800 CausalMutation disease CLINVAR Natural history of mevalonate kinase deficiency: a literature review. 27142780 2016
Entrez Id: 4598
Gene Symbol: MVK
MVK 		0.800 Biomarker disease GENOMICS_ENGLAND Genomic variations of the mevalonate pathway in porokeratosis. 26202976 2015
Entrez Id: 4598
Gene Symbol: MVK
MVK 		0.800 Biomarker disease BEFREE Deficiency of MVK is associated with two rare periodic fever syndromes, mevalonic aciduria (MA), a severe form and hyper-immunoglobulin-D syndrome (HIDS), a milder form. 26420133 2015
Entrez Id: 4598
Gene Symbol: MVK
MVK 		0.800 CausalMutation disease CLINVAR Periodic fever in MVK deficiency: a patient initially diagnosed with incomplete Kawasaki disease. 24470648 2014
Entrez Id: 4598
Gene Symbol: MVK
MVK 		0.800 CausalMutation disease CLINVAR Mevalonate kinase deficiency (hyper IgD syndrome with periodic fever)--different faces with separate treatments: two cases and review of the literature. 23692791 2014
Entrez Id: 4598
Gene Symbol: MVK
MVK 		0.800 CausalMutation disease CLINVAR Interleukin 6 blockade for hyperimmunoglobulin D and periodic fever syndrome. 24561416 2014
Entrez Id: 4598
Gene Symbol: MVK
MVK 		0.800 Biomarker disease GENOMICS_ENGLAND Genome sequencing identifies major causes of severe intellectual disability. 24896178 2014
Entrez Id: 4598
Gene Symbol: MVK
MVK 		0.800 CausalMutation disease CLINVAR Weekly oral alendronate in mevalonate kinase deficiency. 24360083 2013
Entrez Id: 4598
Gene Symbol: MVK
MVK 		0.800 Biomarker disease CTD_human Temperature and drug treatments in mevalonate kinase deficiency: an ex vivo study. 24073415 2013
Entrez Id: 4598
Gene Symbol: MVK
MVK 		0.800 CausalMutation disease CLINVAR Mutations in the mevalonate kinase (MVK) gene cause nonsyndromic retinitis pigmentosa. 24084495 2013
Entrez Id: 4598
Gene Symbol: MVK
MVK 		0.800 GeneticVariation disease CLINVAR Severe early-onset colitis revealing mevalonate kinase deficiency. 23979089 2013
Entrez Id: 4598
Gene Symbol: MVK
MVK 		0.800 Biomarker disease GENOMICS_ENGLAND Mutations in the mevalonate kinase (MVK) gene cause nonsyndromic retinitis pigmentosa. 24084495 2013
Entrez Id: 4598
Gene Symbol: MVK
MVK 		0.800 CausalMutation disease CLINVAR Severe early-onset colitis revealing mevalonate kinase deficiency. 23979089 2013
Entrez Id: 4598
Gene Symbol: MVK
MVK 		0.800 GeneticVariation disease BEFREE Mevalonic aciduria (MA) represents the severest form of mevalonate kinase deficiency due to recessively inherited, loss-of-function MVK mutations. 22271696 2012
Entrez Id: 4598
Gene Symbol: MVK
MVK 		0.800 Biomarker disease BEFREE Defects in mevalonate kinase, a critical rate-limiting enzyme in cholesterol and isoprene metabolism, have been associated with 2 clinical phenotypes: mevalonic aciduria, which presents in infancy or early childhood with growth failure, dysmorphic features, and neurologic disease; and hyperimmunoglobulinemia D and periodic fever syndrome, which usually presents outside the neonatal period as an autoinflammatory periodic fever syndrome. 21425920 2011
Entrez Id: 4598
Gene Symbol: MVK
MVK 		0.800 CausalMutation disease CLINVAR Carrier testing for severe childhood recessive diseases by next-generation sequencing. 21228398 2011