Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Osteopetroses TNFSF11 disease C0029454 GeneticVariation 0.5 disgenet
Osteopetroses CLCN7 disease C0029454 GeneticVariation 0.5 orphanet , disgenet
Osteopetroses CLCN7 disease C0029454 Biomarker 0.5 orphanet , disgenet
Osteopetroses TNFSF11 disease C0029454 Biomarker 0.5 disgenet
Osteopetroses CLCN7 disease C0029454 AlteredExpression 0.5 orphanet , disgenet
Osteopetroses PLEKHM1 disease C0029454 Biomarker 0.45 orphanet , disgenet
Osteopetroses TNFRSF11A disease C0029454 Biomarker 0.45 orphanet , disgenet
Osteopetroses PLEKHM1 disease C0029454 GeneticVariation 0.45 orphanet , disgenet
Osteopetroses TNFRSF11A disease C0029454 GeneticVariation 0.45 orphanet , disgenet
Osteopetroses FERMT3 disease C0029454 GeneticVariation 0.31 disgenet
Osteopetroses FERMT3 disease C0029454 Biomarker 0.31 disgenet
Osteopetroses MITF disease C0029454 Biomarker 0.3 disgenet
Osteopetroses CSF1 disease C0029454 GeneticVariation 0.29 disgenet
Osteopetroses CSF1 disease C0029454 Biomarker 0.29 disgenet
Osteopetroses CA2 disease C0029454 GeneticVariation 0.2 disgenet
Osteopetroses OSTM1 disease C0029454 Biomarker 0.2 orphanet , disgenet
Osteopetroses GHR disease C0029454 Biomarker 0.2 disgenet
Osteopetroses LRRK1 disease C0029454 Biomarker 0.2 disgenet
Osteopetroses OSTM1 disease C0029454 AlteredExpression 0.2 orphanet , disgenet
Osteopetroses CA2 disease C0029454 Biomarker 0.2 disgenet
Osteopetroses TCIRG1 disease C0029454 GeneticVariation 0.2 orphanet , disgenet
Osteopetroses TCIRG1 disease C0029454 Biomarker 0.2 orphanet , disgenet
Osteopetroses OSTM1 disease C0029454 GeneticVariation 0.2 orphanet , disgenet
Osteopetroses SNX10 disease C0029454 GeneticVariation 0.14 disgenet
Osteopetroses SNX10 disease C0029454 Biomarker 0.14 disgenet
Osteopetroses IKBKG disease C0029454 GeneticVariation 0.14 orphanet , disgenet
Osteopetroses IKBKG disease C0029454 Biomarker 0.14 orphanet , disgenet
Osteopetroses LRP5 disease C0029454 GeneticVariation 0.13 disgenet
Osteopetroses LRP5 disease C0029454 Biomarker 0.13 disgenet
Osteopetroses CSF1R disease C0029454 Biomarker 0.11 disgenet
Osteopetroses ANKH disease C0029454 Biomarker 0.1 disgenet
Osteopetroses PTDSS1 disease C0029454 Biomarker 0.1 disgenet
Osteopetroses GJA1 disease C0029454 Biomarker 0.1 disgenet
Osteopetroses DHCR24 disease C0029454 Biomarker 0.1 disgenet
Osteopetroses AMER1 disease C0029454 Biomarker 0.1 disgenet
Osteopetroses TNFRSF11B disease C0029454 AlteredExpression 0.05 disgenet
Osteopetroses TNFRSF11B disease C0029454 Biomarker 0.05 disgenet
Osteopetroses ADO disease C0029454 Biomarker 0.05 disgenet
Osteopetroses ADO disease C0029454 GeneticVariation 0.05 disgenet
Osteopetroses CTSK disease C0029454 GeneticVariation 0.03 disgenet
Osteopetroses IFNG disease C0029454 Biomarker 0.03 disgenet
Osteopetroses CTSK disease C0029454 Biomarker 0.03 disgenet
Osteopetroses TRAF6 disease C0029454 GeneticVariation 0.02 disgenet
Osteopetroses RBFOX2 disease C0029454 Biomarker 0.02 disgenet
Osteopetroses MRGPRF disease C0029454 Biomarker 0.02 disgenet
Osteopetroses ACP5 disease C0029454 Biomarker 0.02 disgenet
Osteopetroses TYROBP disease C0029454 Biomarker 0.02 disgenet
Osteopetroses ACP5 disease C0029454 GeneticVariation 0.02 disgenet
Osteopetroses LEP disease C0029454 Biomarker 0.01 disgenet
Osteopetroses SRC disease C0029454 AlteredExpression 0.01 disgenet
Osteopetroses NFKB2 disease C0029454 GeneticVariation 0.01 disgenet
Osteopetroses BTF3P11 disease C0029454 AlteredExpression 0.01 disgenet
Osteopetroses CD40 disease C0029454 GeneticVariation 0.01 disgenet
Osteopetroses EXTL3 disease C0029454 Biomarker 0.01 disgenet
Osteopetroses ATP6V0D2 disease C0029454 Biomarker 0.01 disgenet
Osteopetroses PTPN11 disease C0029454 Biomarker 0.01 disgenet
Osteopetroses NFATC1 disease C0029454 Biomarker 0.01 disgenet
Osteopetroses HLA-A disease C0029454 Biomarker 0.01 disgenet
Osteopetroses ACTG2 disease C0029454 Biomarker 0.01 disgenet
Osteopetroses COL2A1 disease C0029454 Biomarker 0.01 disgenet
Osteopetroses ATP6V1B1 disease C0029454 GeneticVariation 0.01 disgenet
Osteopetroses ARHGEF7 disease C0029454 GeneticVariation 0.01 disgenet
Osteopetroses GTF2H4 disease C0029454 GeneticVariation 0.01 disgenet
Osteopetroses H3P42 disease C0029454 GeneticVariation 0.01 disgenet
Osteopetroses TREM2 disease C0029454 Biomarker 0.01 disgenet
Osteopetroses ARF1 disease C0029454 Biomarker 0.01 disgenet
Osteopetroses ARSA disease C0029454 Biomarker 0.01 disgenet
Osteopetroses CTNNB1 disease C0029454 AlteredExpression 0.01 disgenet
Osteopetroses MIR320A disease C0029454 AlteredExpression 0.01 disgenet
Osteopetroses CKB disease C0029454 Biomarker 0.01 disgenet
Osteopetroses PTH disease C0029454 AlteredExpression 0.01 disgenet
Osteopetroses H3P40 disease C0029454 GeneticVariation 0.01 disgenet
Osteopetroses CLCN1 disease C0029454 GeneticVariation 0.01 disgenet
Osteopetroses SOST disease C0029454 Biomarker 0.01 disgenet
Osteopetroses MCOLN1 disease C0029454 Biomarker 0.01 disgenet
Osteopetroses CSF2 disease C0029454 GeneticVariation 0.01 disgenet
Osteopetroses VEGFA disease C0029454 AlteredExpression 0.01 disgenet
Osteopetroses IGSF23 disease C0029454 GeneticVariation 0.01 disgenet
Osteopetroses CCDC154 disease C0029454 Biomarker 0.01 disgenet
Osteopetroses GAB2 disease C0029454 Biomarker 0.01 disgenet
Osteopetroses PDE11A disease C0029454 GeneticVariation 0.01 disgenet
Osteopetroses BCL2 disease C0029454 AlteredExpression 0.01 disgenet
Osteopetroses EXTL2 disease C0029454 Biomarker 0.01 disgenet
Osteopetroses MYC disease C0029454 GeneticVariation 0.01 disgenet
Osteopetroses NFKB1 disease C0029454 GeneticVariation 0.01 disgenet
Osteopetroses TSC1 disease C0029454 GeneticVariation 0.01 disgenet
Osteopetroses CLC disease C0029454 GeneticVariation 0.01 disgenet
Osteopetroses DEGS1 disease C0029454 Biomarker 0.01 disgenet
Osteopetroses SLC4A2 disease C0029454 GeneticVariation 0.01 disgenet
Osteopetroses PSIP1 disease C0029454 GeneticVariation 0.01 disgenet
Osteopetroses ASCC1 disease C0029454 GeneticVariation 0.01 disgenet
Osteopetroses FKBP4 disease C0029454 GeneticVariation 0.01 disgenet
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