Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Renal-Hepatic-Pancreatic Dysplasia NPHP3 disease C2673883 Biomarker 0.54 orphanet , disgenet
Renal-Hepatic-Pancreatic Dysplasia NPHP3 disease C2673883 GeneticVariation 0.54 orphanet , disgenet
Renal-Hepatic-Pancreatic Dysplasia NPHP3 disease C2673883 GermlineCausalMutation 0.54 orphanet , disgenet
Renal-Hepatic-Pancreatic Dysplasia NEK8 disease C2673883 Biomarker 0.5 orphanet , disgenet
Renal-Hepatic-Pancreatic Dysplasia NEK8 disease C2673883 GermlineCausalMutation 0.5 orphanet , disgenet
Renal-Hepatic-Pancreatic Dysplasia NPHP3-ACAD11 disease C2673883 Biomarker 0.01 disgenet
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