Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4598
Gene Symbol: MVK
MVK
CUI: C1959626
Disease: Mevalonic Aciduria
Mevalonic Aciduria 		0.800 Biomarker GENOMICS_ENGLAND Genetic studies in intellectual disability and related disorders. 26503795

2016
Entrez Id: 4598
Gene Symbol: MVK
MVK
CUI: C1959626
Disease: Mevalonic Aciduria
Mevalonic Aciduria 		0.800 Biomarker GENOMICS_ENGLAND Perinatal manifestation of mevalonate kinase deficiency and efficacy of anakinra. 27012807

2016
Entrez Id: 4598
Gene Symbol: MVK
MVK
CUI: C1959626
Disease: Mevalonic Aciduria
Mevalonic Aciduria 		0.800 Biomarker GENOMICS_ENGLAND Genetic studies in intellectual disability and related disorders. 26503795

2016
Entrez Id: 4598
Gene Symbol: MVK
MVK
CUI: C1959626
Disease: Mevalonic Aciduria
Mevalonic Aciduria 		0.800 Biomarker GENOMICS_ENGLAND Genomic variations of the mevalonate pathway in porokeratosis. 26202976

2015
Entrez Id: 4598
Gene Symbol: MVK
MVK
CUI: C1959626
Disease: Mevalonic Aciduria
Mevalonic Aciduria 		0.800 Biomarker GENOMICS_ENGLAND Genome sequencing identifies major causes of severe intellectual disability. 24896178

2014
Entrez Id: 4598
Gene Symbol: MVK
MVK
CUI: C1959626
Disease: Mevalonic Aciduria
Mevalonic Aciduria 		0.800 Biomarker GENOMICS_ENGLAND Mutations in the mevalonate kinase (MVK) gene cause nonsyndromic retinitis pigmentosa. 24084495

2013
Entrez Id: 4598
Gene Symbol: MVK
MVK
CUI: C1959626
Disease: Mevalonic Aciduria
Mevalonic Aciduria 		0.800 Biomarker GENOMICS_ENGLAND Retinitis pigmentosa in mevalonate kinase deficiency. 16435210

2005
Entrez Id: 4598
Gene Symbol: MVK
MVK
CUI: C1959626
Disease: Mevalonic Aciduria
Mevalonic Aciduria 		0.800 Biomarker GENOMICS_ENGLAND We now report four different missense mutations including three novel ones, which were identified by sequence analysis of mevalonate kinase cDNA from three mevalonic aciduria patients. 10401001

1999