Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Nephronophthisis 2 INVS disease C1865872 GermlineCausalMutation 0.96 orphanet , disgenet
Nephronophthisis 2 INVS disease C1865872 Biomarker 0.96 orphanet , disgenet
Nephronophthisis 2 INVS disease C1865872 AlteredExpression 0.96 orphanet , disgenet
Nephronophthisis 2 INVS disease C1865872 CausalMutation 0.96 orphanet , disgenet
Nephronophthisis 2 INVS disease C1865872 GeneticVariation 0.96 orphanet , disgenet
Nephronophthisis 2 TTC21B disease C1865872 CausalMutation 0.4 orphanet , disgenet
Nephronophthisis 2 TTC21B disease C1865872 GermlineCausalMutation 0.4 orphanet , disgenet
Nephronophthisis 2 NPHP3 disease C1865872 GeneticVariation 0.33 orphanet , disgenet
Nephronophthisis 2 NPHP3 disease C1865872 GermlineCausalMutation 0.33 orphanet , disgenet
Nephronophthisis 2 CEP83 disease C1865872 GeneticVariation 0.31 orphanet , disgenet
Nephronophthisis 2 CEP83 disease C1865872 GermlineCausalMutation 0.31 orphanet , disgenet
Nephronophthisis 2 ZNF423 disease C1865872 GermlineCausalMutation 0.3 orphanet , disgenet
Nephronophthisis 2 NXPH2 disease C1865872 Biomarker 0.3 disgenet
Nephronophthisis 2 NEK8 disease C1865872 GermlineCausalMutation 0.3 orphanet , disgenet
Nephronophthisis 2 ANKS6 disease C1865872 GermlineCausalMutation 0.3 orphanet , disgenet
Nephronophthisis 2 TTC21B-AS1 disease C1865872 CausalMutation 0.1 disgenet
Nephronophthisis 2 SGK1 disease C1865872 Biomarker 0.01 disgenet
Nephronophthisis 2 NPHP4 disease C1865872 GeneticVariation 0.01 disgenet
Nephronophthisis 2 NPHP1 disease C1865872 GeneticVariation 0.01 disgenet
Nephronophthisis 2 NEDD4L disease C1865872 Biomarker 0.01 disgenet
Nephronophthisis 2 CRTC2 disease C1865872 AlteredExpression 0.01 disgenet
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