Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Nephronophthisis 3 NPHP3 disease C1858392 GeneticVariation 0.96 orphanet , disgenet
Nephronophthisis 3 NPHP3 disease C1858392 CausalMutation 0.96 orphanet , disgenet
Nephronophthisis 3 NPHP3 disease C1858392 Biomarker 0.96 orphanet , disgenet
Nephronophthisis 3 NPHP3-ACAD11 disease C1858392 CausalMutation 0.1 disgenet
Nephronophthisis 3 DNAJC13 disease C1858392 GeneticVariation 0.01 disgenet
Nephronophthisis 3 NPHP4 disease C1858392 Biomarker 0.01 disgenet
Nephronophthisis 3 NXPH3 disease C1858392 GeneticVariation 0.01 disgenet
Nephronophthisis 3 IQCB1 disease C1858392 GeneticVariation 0.01 disgenet
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