Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Camurati Engelmann Syndrome TGFB1 disease C0011989 AlteredExpression 0.8 orphanet , disgenet
Camurati Engelmann Syndrome TGFB1 disease C0011989 GeneticVariation 0.8 orphanet , disgenet
Camurati Engelmann Syndrome TGFB1 disease C0011989 Biomarker 0.8 orphanet , disgenet
Camurati Engelmann Syndrome TGFB1 disease C0011989 CausalMutation 0.8 orphanet , disgenet
Camurati Engelmann Syndrome IFT122 disease C0011989 GeneticVariation 0.32 disgenet
Camurati Engelmann Syndrome IFT122 disease C0011989 Biomarker 0.32 disgenet
Camurati Engelmann Syndrome MITF disease C0011989 Biomarker 0.2 disgenet
Camurati Engelmann Syndrome TNFSF11 disease C0011989 AlteredExpression 0.11 disgenet
Camurati Engelmann Syndrome TNFSF11 disease C0011989 Biomarker 0.11 disgenet
Camurati Engelmann Syndrome STX16 disease C0011989 Biomarker 0.1 disgenet
Camurati Engelmann Syndrome CA2 disease C0011989 Biomarker 0.1 disgenet
Camurati Engelmann Syndrome SOST disease C0011989 Biomarker 0.1 disgenet
Camurati Engelmann Syndrome TBXAS1 disease C0011989 Biomarker 0.1 disgenet
Camurati Engelmann Syndrome GNAS disease C0011989 Biomarker 0.1 disgenet
Camurati Engelmann Syndrome TMEM165 disease C0011989 Biomarker 0.1 disgenet
Camurati Engelmann Syndrome APOE disease C0011989 GeneticVariation 0.02 disgenet
Camurati Engelmann Syndrome APOE disease C0011989 Biomarker 0.02 disgenet
Camurati Engelmann Syndrome MAPT disease C0011989 Biomarker 0.02 disgenet
Camurati Engelmann Syndrome CD226 disease C0011989 GeneticVariation 0.01 disgenet
Camurati Engelmann Syndrome SNCA disease C0011989 Biomarker 0.01 disgenet
Camurati Engelmann Syndrome WDR19 disease C0011989 GeneticVariation 0.01 disgenet
Camurati Engelmann Syndrome VEGFA disease C0011989 GeneticVariation 0.01 disgenet
Camurati Engelmann Syndrome LGALS1 disease C0011989 AlteredExpression 0.01 disgenet
Camurati Engelmann Syndrome RYR1 disease C0011989 Biomarker 0.01 disgenet
Camurati Engelmann Syndrome MYD88 disease C0011989 GeneticVariation 0.01 disgenet
Camurati Engelmann Syndrome IRAK4 disease C0011989 GeneticVariation 0.01 disgenet
Camurati Engelmann Syndrome S100B disease C0011989 Biomarker 0.01 disgenet
Camurati Engelmann Syndrome TLR4 disease C0011989 AlteredExpression 0.01 disgenet
Camurati Engelmann Syndrome NOX4 disease C0011989 Biomarker 0.01 disgenet
Camurati Engelmann Syndrome BGLAP disease C0011989 Biomarker 0.01 disgenet
Camurati Engelmann Syndrome TGFBR2 disease C0011989 Biomarker 0.01 disgenet
Camurati Engelmann Syndrome ALB disease C0011989 Biomarker 0.01 disgenet
Camurati Engelmann Syndrome WDR35 disease C0011989 GeneticVariation 0.01 disgenet
Camurati Engelmann Syndrome SH2B3 disease C0011989 Biomarker 0.01 disgenet
Camurati Engelmann Syndrome LAMC2 disease C0011989 Biomarker 0.01 disgenet
Camurati Engelmann Syndrome CSF2 disease C0011989 Biomarker 0.01 disgenet
Camurati Engelmann Syndrome COL1A2 disease C0011989 Biomarker 0.01 disgenet
Camurati Engelmann Syndrome AGTR1 disease C0011989 Biomarker 0.01 disgenet
Camurati Engelmann Syndrome DPEP1 disease C0011989 Biomarker 0.01 disgenet
Camurati Engelmann Syndrome TRBV20OR9-2 disease C0011989 Biomarker 0.01 disgenet
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