Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Pyle disease SFRP4 disease C0265294 CausalMutation 0.73 orphanet , disgenet
Pyle disease SFRP4 disease C0265294 GermlineCausalMutation 0.73 orphanet , disgenet
Pyle disease SFRP4 disease C0265294 GeneticVariation 0.73 orphanet , disgenet
Pyle disease SFRP4 disease C0265294 Biomarker 0.73 orphanet , disgenet
Pyle disease RMRP disease C0265294 Biomarker 0.14 disgenet
Pyle disease RMRP disease C0265294 GeneticVariation 0.14 disgenet
Pyle disease EXTL3 disease C0265294 Biomarker 0.11 disgenet
Pyle disease EXTL3 disease C0265294 GeneticVariation 0.11 disgenet
Pyle disease RUNX2 disease C0265294 GeneticVariation 0.11 orphanet , disgenet
Pyle disease RUNX2 disease C0265294 Biomarker 0.11 orphanet , disgenet
Pyle disease TMEM165 disease C0265294 Biomarker 0.1 disgenet
Pyle disease TGFB1 disease C0265294 Biomarker 0.1 disgenet
Pyle disease NKX3-2 disease C0265294 Biomarker 0.1 disgenet
Pyle disease POLE disease C0265294 Biomarker 0.1 disgenet
Pyle disease GJA1 disease C0265294 Biomarker 0.1 disgenet
Pyle disease LONP1 disease C0265294 Biomarker 0.1 disgenet
Pyle disease CDKN1C disease C0265294 Biomarker 0.1 disgenet
Pyle disease POP1 disease C0265294 Biomarker 0.1 disgenet
Pyle disease EPDR1 disease C0265294 CausalMutation 0.1 disgenet
Pyle disease TRIP11 disease C0265294 CausalMutation 0.1 disgenet
Pyle disease UFSP2 disease C0265294 Biomarker 0.1 disgenet
Pyle disease COL2A1 disease C0265294 Biomarker 0.1 disgenet
Pyle disease COL10A1 disease C0265294 GeneticVariation 0.02 disgenet
Pyle disease COL10A1 disease C0265294 Biomarker 0.02 disgenet
Pyle disease ANKH disease C0265294 GeneticVariation 0.01 disgenet
Pyle disease PTH1R disease C0265294 GeneticVariation 0.01 disgenet
Pyle disease CFAP410 disease C0265294 GeneticVariation 0.01 disgenet
Pyle disease WLS disease C0265294 GeneticVariation 0.01 disgenet
Pyle disease RSPRY1 disease C0265294 Biomarker 0.01 disgenet
Pyle disease MARCKSL1 disease C0265294 GeneticVariation 0.01 disgenet
Pyle disease ABCC1 disease C0265294 GeneticVariation 0.01 disgenet
Pyle disease PAPSS2 disease C0265294 GeneticVariation 0.01 disgenet
Pyle disease LRRK1 NA C0265294 NA NA orphanet
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