Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4598
Gene Symbol: MVK
MVK
0.380 Biomarker phenotype BEFREE Our results suggest that minor elevations in temperature can set off a chain of events with MK becoming progressively rate-limiting, leading to a temporary deficiency of isoprenoid end-products, which induces inflammation and fever. 12444096 2002
Entrez Id: 4598
Gene Symbol: MVK
MVK
0.380 GeneticVariation phenotype BEFREE Here, we report a novel pathogenic mutation in the MVK gene as the cause of fever in a 44-year-old male patient with a history of fever over a period of 27 years. 27899390 2016
Entrez Id: 4598
Gene Symbol: MVK
MVK
0.380 GeneticVariation phenotype LHGDN Our results suggest that minor elevations in temperature can set off a chain of events with MK becoming progressively rate-limiting, leading to a temporary deficiency of isoprenoid end-products, which induces inflammation and fever. 12444096 2002
Entrez Id: 4598
Gene Symbol: MVK
MVK
0.380 Biomarker phenotype BEFREE The mechanism by which MK deficiency leads to fever is not understood. 10949735 2000
Entrez Id: 4598
Gene Symbol: MVK
MVK
0.380 GeneticVariation phenotype BEFREE Inclusion criteria were a MVK mutation-positive patient ≤16 years of age with more than three self-limiting episodes of fever >38.5°C associated with increased inflammation markers. 22038276 2012
Entrez Id: 4598
Gene Symbol: MVK
MVK
0.380 Biomarker phenotype LHGDN Mevalonate kinase deficiency: Evidence for a phenotypic continuum. 15037710 2004
Entrez Id: 4598
Gene Symbol: MVK
MVK
0.380 Biomarker phenotype BEFREE The pathophysiology of these disorders is not yet understood, but eventually will give insight into the in vivo role of mevalonate kinase and isoprenoid biosynthesis with respect to the acute phase response and fever. 11111075 2000
Entrez Id: 4598
Gene Symbol: MVK
MVK
0.380 GeneticVariation phenotype BEFREE Her 19-year old brother presented since the age of 1 year with prolonged episodes of fever and was diagnosed with HIDS at the age of 7 years based on clinical features and homozygosity for p.V377I mutation in MVK. 25708585 2015
Entrez Id: 4598
Gene Symbol: MVK
MVK
0.380 Biomarker phenotype BEFREE Resolving the complete pathophysiology of this disorder is a major challenge, but eventually will give insight into the in vivo role of MK and isoprenoid biosynthesis in inflammation and fever. 12861380 2003
Entrez Id: 4598
Gene Symbol: MVK
MVK
0.380 Biomarker phenotype CTD_human Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndrome. 10369261 1999