Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Developmental Delay, Epilepsy, and Neonatal Diabetes KCNJ11 disease C1853564 Biomarker 0.57 orphanet , disgenet
Developmental Delay, Epilepsy, and Neonatal Diabetes KCNJ11 disease C1853564 GermlineCausalMutation 0.57 orphanet , disgenet
Developmental Delay, Epilepsy, and Neonatal Diabetes KCNJ11 disease C1853564 GeneticVariation 0.57 orphanet , disgenet
Developmental Delay, Epilepsy, and Neonatal Diabetes ABCC8 disease C1853564 GermlineCausalMutation 0.36 orphanet , disgenet
Developmental Delay, Epilepsy, and Neonatal Diabetes ABCC8 disease C1853564 Biomarker 0.36 orphanet , disgenet
Developmental Delay, Epilepsy, and Neonatal Diabetes ABCC8 disease C1853564 GeneticVariation 0.36 orphanet , disgenet
Developmental Delay, Epilepsy, and Neonatal Diabetes INS disease C1853564 Biomarker 0.2 disgenet
Developmental Delay, Epilepsy, and Neonatal Diabetes PTF1A disease C1853564 GeneticVariation 0.01 disgenet
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