Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Nephronophthisis, familial juvenile NPHP1 disease C1855681 GeneticVariation 0.36 orphanet , disgenet
Nephronophthisis, familial juvenile NPHP1 disease C1855681 GermlineCausalMutation 0.36 orphanet , disgenet
Nephronophthisis, familial juvenile MAPKBP1 disease C1855681 GermlineCausalMutation 0.3 orphanet , disgenet
Nephronophthisis, familial juvenile GLIS2 disease C1855681 GermlineCausalMutation 0.3 orphanet , disgenet
Nephronophthisis, familial juvenile ANKS6 disease C1855681 GermlineCausalMutation 0.3 orphanet , disgenet
Nephronophthisis, familial juvenile NPHP4 disease C1855681 GermlineCausalMutation 0.3 orphanet , disgenet
Nephronophthisis, familial juvenile WDR19 disease C1855681 GermlineCausalMutation 0.3 orphanet , disgenet
Nephronophthisis, familial juvenile ADAMTS9 disease C1855681 GermlineCausalMutation 0.3 orphanet , disgenet
Nephronophthisis, familial juvenile NXPH1 disease C1855681 GeneticVariation 0.01 disgenet
Nephronophthisis, familial juvenile VIM disease C1855681 Biomarker 0.01 disgenet
Nephronophthisis, familial juvenile ANPEP disease C1855681 GeneticVariation 0.01 disgenet
Nephronophthisis, familial juvenile PAX2 disease C1855681 AlteredExpression 0.01 disgenet
Nephronophthisis, familial juvenile TINAG disease C1855681 Biomarker 0.01 disgenet
Nephronophthisis, familial juvenile MLYCD disease C1855681 GeneticVariation 0.01 disgenet
Nephronophthisis, familial juvenile INVS disease C1855681 GeneticVariation 0.01 disgenet
Nephronophthisis, familial juvenile LINC01672 disease C1855681 GeneticVariation 0.01 disgenet
Nephronophthisis, familial juvenile MUC1 disease C1855681 GeneticVariation 0.01 disgenet
Nephronophthisis, familial juvenile CTNNB1 disease C1855681 GeneticVariation 0.01 disgenet
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