Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Mevalonate Kinase Deficiency MVK disease C0342731 GermlineCausalMutation 0.7 orphanet , disgenet
Mevalonate Kinase Deficiency MVK disease C0342731 AlteredExpression 0.7 orphanet , disgenet
Mevalonate Kinase Deficiency MVK disease C0342731 GeneticVariation 0.7 orphanet , disgenet
Mevalonate Kinase Deficiency MVK disease C0342731 Biomarker 0.7 orphanet , disgenet
Mevalonate Kinase Deficiency HMGCR disease C0342731 Biomarker 0.3 disgenet
Mevalonate Kinase Deficiency TNF disease C0342731 Biomarker 0.05 disgenet
Mevalonate Kinase Deficiency NLRP3 disease C0342731 GeneticVariation 0.05 disgenet
Mevalonate Kinase Deficiency TNF disease C0342731 AlteredExpression 0.05 disgenet
Mevalonate Kinase Deficiency NLRP3 disease C0342731 Biomarker 0.05 disgenet
Mevalonate Kinase Deficiency TNF disease C0342731 GeneticVariation 0.05 disgenet
Mevalonate Kinase Deficiency NLRP3 disease C0342731 AlteredExpression 0.05 disgenet
Mevalonate Kinase Deficiency MEFV disease C0342731 GeneticVariation 0.04 disgenet
Mevalonate Kinase Deficiency IL1B disease C0342731 Biomarker 0.03 disgenet
Mevalonate Kinase Deficiency RAC1 disease C0342731 Biomarker 0.03 disgenet
Mevalonate Kinase Deficiency RAC1 disease C0342731 AlteredExpression 0.03 disgenet
Mevalonate Kinase Deficiency TNFRSF1A disease C0342731 GeneticVariation 0.02 disgenet
Mevalonate Kinase Deficiency TNFRSF1A disease C0342731 Biomarker 0.02 disgenet
Mevalonate Kinase Deficiency IL1A disease C0342731 Biomarker 0.01 disgenet
Mevalonate Kinase Deficiency SAA1 disease C0342731 GeneticVariation 0.01 disgenet
Mevalonate Kinase Deficiency PMVK disease C0342731 Biomarker 0.01 disgenet
Mevalonate Kinase Deficiency RHOA disease C0342731 GeneticVariation 0.01 disgenet
Mevalonate Kinase Deficiency GRID2 disease C0342731 Biomarker 0.01 disgenet
Mevalonate Kinase Deficiency FDFT1 disease C0342731 GeneticVariation 0.01 disgenet
Mevalonate Kinase Deficiency MMAB disease C0342731 GeneticVariation 0.01 disgenet
Mevalonate Kinase Deficiency NLRC4 disease C0342731 GeneticVariation 0.01 disgenet
Mevalonate Kinase Deficiency PSTPIP1 disease C0342731 Biomarker 0.01 disgenet
Mevalonate Kinase Deficiency IFNG disease C0342731 Biomarker 0.01 disgenet
Mevalonate Kinase Deficiency ADA2 disease C0342731 Biomarker 0.01 disgenet
Mevalonate Kinase Deficiency SEC23B disease C0342731 GeneticVariation 0.01 disgenet
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