Source: GENOMICS_ENGLAND

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 4598
Gene Symbol: MVK
MVK 		mevalonate kinase 0.576 0.731 0.17
CUI: C1959626
Disease: Mevalonic Aciduria
Mevalonic Aciduria 		disease 0.800 None 1.000 7 0 1992 2019
Entrez Id: 4598
Gene Symbol: MVK
MVK 		mevalonate kinase 0.576 0.731 0.17
CUI: C0398691
Disease: Hyperimmunoglobulinemia D
Hyperimmunoglobulinemia D 		disease 0.800 None 1.000 3 0 1997 2019
Entrez Id: 4598
Gene Symbol: MVK
MVK 		mevalonate kinase 0.576 0.731 0.17
CUI: C1867981
Disease: POROKERATOSIS, DISSEMINATED SUPERFICIAL ACTINIC, 1
POROKERATOSIS, DISSEMINATED SUPERFICIAL ACTINIC, 1 		disease 0.700 strong 1.000 2 0 1997 2017
Entrez Id: 4598
Gene Symbol: MVK
MVK 		mevalonate kinase 0.576 0.731 0.17
CUI: C0342731
Disease: Deficiency of mevalonate kinase
Deficiency of mevalonate kinase 		disease 0.700 strong 0.979 0 0 1992 2019
Entrez Id: 4598
Gene Symbol: MVK
MVK 		mevalonate kinase 0.576 0.731 0.17
CUI: C0949506
Disease: Porokeratosis of Mibelli
Porokeratosis of Mibelli 		disease 0.510 strong 1.000 1 0 2014 2015
Entrez Id: 4598
Gene Symbol: MVK
MVK 		mevalonate kinase 0.576 0.731 0.17
CUI: C3860213
Disease: Autoinflammatory disorder
Autoinflammatory disorder 		disease 0.340 strong 1.000 1 0 2003 2019
Entrez Id: 4598
Gene Symbol: MVK
MVK 		mevalonate kinase 0.576 0.731 0.17
CUI: C1442958
Disease: Actinic porokeratosis
Actinic porokeratosis 		disease 0.300 strong 1.000 1 0 2014 2014
Entrez Id: 4598
Gene Symbol: MVK
MVK 		mevalonate kinase 0.576 0.731 0.17
CUI: C0751422
Disease: Hereditary Autoinflammatory Diseases
Hereditary Autoinflammatory Diseases 		group 0.300 strong 0 0