Application | Comment | Organism |
---|---|---|
diagnostics | mutations in the mevalonate kinase gene cause the hyperimmunoglobulin D syndrome, HIDS, and are an appropriate marker for the disease | Homo sapiens |
Protein Variants | Comment | Organism |
---|---|---|
additional information | mutations in the mevalonate kinase gene cause the hyperimmunoglobulin D syndrome, HIDS, an autosomal recessive autoinflammatory disease, phenotype | Homo sapiens |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | - |
french population | - |
General Information | Comment | Organism |
---|---|---|
malfunction | mutations in the mevalonate kinase gene cause the hyperimmunoglobulin D syndrome, HIDS, an autosomal recessive autoinflammatory disease | Homo sapiens |