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 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 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 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 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 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 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
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 Genome sequencing identifies major causes of severe intellectual disability. 24896178

2014