Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Hyperinsulinisms, Congenital KCNJ11 disease C3888018 Biomarker 0.7 disgenet
Hyperinsulinisms, Congenital KCNJ11 disease C3888018 GeneticVariation 0.7 disgenet
Hyperinsulinisms, Congenital ABCC8 disease C3888018 Biomarker 0.5 disgenet
Hyperinsulinisms, Congenital GCK disease C3888018 AlteredExpression 0.5 disgenet
Hyperinsulinisms, Congenital ABCC8 disease C3888018 CausalMutation 0.5 disgenet
Hyperinsulinisms, Congenital ABCC8 disease C3888018 GeneticVariation 0.5 disgenet
Hyperinsulinisms, Congenital GCK disease C3888018 GeneticVariation 0.5 disgenet
Hyperinsulinisms, Congenital GCK disease C3888018 Biomarker 0.5 disgenet
Hyperinsulinisms, Congenital FOXA2 disease C3888018 GeneticVariation 0.34 disgenet
Hyperinsulinisms, Congenital FOXA2 disease C3888018 Biomarker 0.34 disgenet
Hyperinsulinisms, Congenital HADH disease C3888018 GeneticVariation 0.2 disgenet
Hyperinsulinisms, Congenital HADH disease C3888018 Biomarker 0.2 disgenet
Hyperinsulinisms, Congenital GLUD1 disease C3888018 GeneticVariation 0.2 disgenet
Hyperinsulinisms, Congenital HNF4A disease C3888018 Biomarker 0.2 orphanet , disgenet
Hyperinsulinisms, Congenital GLUD1 disease C3888018 Biomarker 0.2 disgenet
Hyperinsulinisms, Congenital HNF4A disease C3888018 GeneticVariation 0.2 orphanet , disgenet
Hyperinsulinisms, Congenital HNF4A disease C3888018 CausalMutation 0.2 orphanet , disgenet
Hyperinsulinisms, Congenital HNF4A disease C3888018 AlteredExpression 0.2 orphanet , disgenet
Hyperinsulinisms, Congenital HNF1A disease C3888018 Biomarker 0.15 disgenet
Hyperinsulinisms, Congenital HNF1A disease C3888018 GeneticVariation 0.15 disgenet
Hyperinsulinisms, Congenital INSR disease C3888018 Biomarker 0.14 disgenet
Hyperinsulinisms, Congenital INSR disease C3888018 GeneticVariation 0.14 disgenet
Hyperinsulinisms, Congenital UCP2 disease C3888018 GeneticVariation 0.13 disgenet
Hyperinsulinisms, Congenital SLC16A1 disease C3888018 Biomarker 0.13 disgenet
Hyperinsulinisms, Congenital UCP2 disease C3888018 Biomarker 0.13 disgenet
Hyperinsulinisms, Congenital SLC16A1 disease C3888018 AlteredExpression 0.13 disgenet
Hyperinsulinisms, Congenital MEN1 disease C3888018 GeneticVariation 0.12 disgenet
Hyperinsulinisms, Congenital PDX1 disease C3888018 AlteredExpression 0.12 disgenet
Hyperinsulinisms, Congenital MEN1 disease C3888018 Biomarker 0.12 disgenet
Hyperinsulinisms, Congenital PDX1 disease C3888018 Biomarker 0.12 disgenet
Hyperinsulinisms, Congenital INS disease C3888018 Biomarker 0.1 disgenet
Hyperinsulinisms, Congenital CDKN1A disease C3888018 Biomarker 0.1 disgenet
Hyperinsulinisms, Congenital CDKN2B disease C3888018 Biomarker 0.1 disgenet
Hyperinsulinisms, Congenital CEL disease C3888018 Biomarker 0.1 disgenet
Hyperinsulinisms, Congenital PAX4 disease C3888018 Biomarker 0.1 disgenet
Hyperinsulinisms, Congenital APPL1 disease C3888018 Biomarker 0.1 disgenet
Hyperinsulinisms, Congenital NEUROD1 disease C3888018 Biomarker 0.1 disgenet
Hyperinsulinisms, Congenital MAFA disease C3888018 Biomarker 0.1 disgenet
Hyperinsulinisms, Congenital MPI disease C3888018 Biomarker 0.1 disgenet
Hyperinsulinisms, Congenital BLK disease C3888018 Biomarker 0.1 disgenet
Hyperinsulinisms, Congenital CDKN2C disease C3888018 Biomarker 0.1 disgenet
Hyperinsulinisms, Congenital CDKN1B disease C3888018 Biomarker 0.1 disgenet
Hyperinsulinisms, Congenital KLF11 disease C3888018 Biomarker 0.1 disgenet
Hyperinsulinisms, Congenital SST disease C3888018 Biomarker 0.09 disgenet
Hyperinsulinisms, Congenital SST disease C3888018 GeneticVariation 0.09 disgenet
Hyperinsulinisms, Congenital GCG disease C3888018 Biomarker 0.04 disgenet
Hyperinsulinisms, Congenital MTOR disease C3888018 Biomarker 0.03 disgenet
Hyperinsulinisms, Congenital MTOR disease C3888018 GeneticVariation 0.03 disgenet
Hyperinsulinisms, Congenital NSD1 disease C3888018 Biomarker 0.02 disgenet
Hyperinsulinisms, Congenital PGM1 disease C3888018 GeneticVariation 0.02 disgenet
Hyperinsulinisms, Congenital MCAT disease C3888018 Biomarker 0.01 disgenet
Hyperinsulinisms, Congenital CDKN1C disease C3888018 Biomarker 0.01 disgenet
Hyperinsulinisms, Congenital CIB2 disease C3888018 Biomarker 0.01 disgenet
Hyperinsulinisms, Congenital NES disease C3888018 GeneticVariation 0.01 disgenet
Hyperinsulinisms, Congenital MED25 disease C3888018 Biomarker 0.01 disgenet
Hyperinsulinisms, Congenital NHS disease C3888018 Biomarker 0.01 disgenet
Hyperinsulinisms, Congenital IGF1 disease C3888018 Biomarker 0.01 disgenet
Hyperinsulinisms, Congenital IQGAP1 disease C3888018 Biomarker 0.01 disgenet
Hyperinsulinisms, Congenital RIT2 disease C3888018 Biomarker 0.01 disgenet
Hyperinsulinisms, Congenital SKIL disease C3888018 GeneticVariation 0.01 disgenet
Hyperinsulinisms, Congenital MCTS1 disease C3888018 Biomarker 0.01 disgenet
Hyperinsulinisms, Congenital GLP1R disease C3888018 AlteredExpression 0.01 disgenet
Hyperinsulinisms, Congenital PMM2 disease C3888018 GeneticVariation 0.01 disgenet
Hyperinsulinisms, Congenital DPP4 disease C3888018 AlteredExpression 0.01 disgenet
Hyperinsulinisms, Congenital HAO1 disease C3888018 Biomarker 0.01 disgenet
Hyperinsulinisms, Congenital IH disease C3888018 Biomarker 0.01 disgenet
Hyperinsulinisms, Congenital HAO2 disease C3888018 Biomarker 0.01 disgenet
Hyperinsulinisms, Congenital HSD17B10 disease C3888018 GeneticVariation 0.01 disgenet
Hyperinsulinisms, Congenital EHHADH disease C3888018 GeneticVariation 0.01 disgenet
Hyperinsulinisms, Congenital FGF21 disease C3888018 AlteredExpression 0.01 disgenet
Hyperinsulinisms, Congenital DDC disease C3888018 Biomarker 0.01 disgenet
Hyperinsulinisms, Congenital MAP4K3 disease C3888018 GeneticVariation 0.01 disgenet
Hyperinsulinisms, Congenital SAR1A disease C3888018 Biomarker 0.01 disgenet
Hyperinsulinisms, Congenital EMP1 disease C3888018 Biomarker 0.01 disgenet
Hyperinsulinisms, Congenital CMA1 disease C3888018 Biomarker 0.01 disgenet
Hyperinsulinisms, Congenital KDM6A disease C3888018 GeneticVariation 0.01 disgenet
Hyperinsulinisms, Congenital TRPC4 disease C3888018 Biomarker 0.01 disgenet
Hyperinsulinisms, Congenital HRAS disease C3888018 GeneticVariation 0.01 disgenet
Hyperinsulinisms, Congenital PDHX disease C3888018 AlteredExpression 0.01 disgenet
Hyperinsulinisms, Congenital PCNA disease C3888018 Biomarker 0.01 disgenet
Hyperinsulinisms, Congenital LEP disease C3888018 Biomarker 0.01 disgenet
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