rs104895297, MVK

N. diseases: 3
Disease: Hyperimmunoglobulinemia D ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Hyperimmunoglobulinemia D
CUI: C0398691
Disease: Hyperimmunoglobulinemia D
0.700 GeneticVariation UNIPROT MVK mutations and associated clinical features in Italian patients affected with autoinflammatory disorders and recurrent fever. 15536479 2005
Hyperimmunoglobulinemia D
CUI: C0398691
Disease: Hyperimmunoglobulinemia D
0.700 GeneticVariation UNIPROT Organization of the mevalonate kinase (MVK) gene and identification of novel mutations causing mevalonic aciduria and hyperimmunoglobulinaemia D and periodic fever syndrome. 11313768 2001
Hyperimmunoglobulinemia D
CUI: C0398691
Disease: Hyperimmunoglobulinemia D
0.700 GeneticVariation UNIPROT Molecular analysis of MVK mutations and enzymatic activity in hyper-IgD and periodic fever syndrome. 11313769 2001
Hyperimmunoglobulinemia D
CUI: C0398691
Disease: Hyperimmunoglobulinemia D
0.700 GeneticVariation UNIPROT Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndrome. 10369261 1999
Hyperimmunoglobulinemia D
CUI: C0398691
Disease: Hyperimmunoglobulinemia D
0.700 GeneticVariation UNIPROT Mutations in the gene encoding mevalonate kinase cause hyper-IgD and periodic fever syndrome. International Hyper-IgD Study Group. 10369262 1999