Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Barber Say syndrome TWIST2 disease C1319466 GermlineCausalMutation 0.73 orphanet , disgenet
Barber Say syndrome TWIST2 disease C1319466 CausalMutation 0.73 orphanet , disgenet
Barber Say syndrome TWIST2 disease C1319466 GeneticVariation 0.73 orphanet , disgenet
Barber Say syndrome TWIST2 disease C1319466 Biomarker 0.73 orphanet , disgenet
Barber Say syndrome GP1BB disease C1319466 Biomarker 0.3 disgenet
Barber Say syndrome GP1BA disease C1319466 Biomarker 0.3 disgenet
Barber Say syndrome GP9 disease C1319466 Biomarker 0.3 disgenet
Barber Say syndrome FGFR2 disease C1319466 GeneticVariation 0.03 disgenet
Barber Say syndrome NLRP3 disease C1319466 AlteredExpression 0.02 disgenet
Barber Say syndrome CRK disease C1319466 Biomarker 0.01 disgenet
Barber Say syndrome VWF disease C1319466 Biomarker 0.01 disgenet
Barber Say syndrome GRAP2 disease C1319466 Biomarker 0.01 disgenet
Barber Say syndrome RNF19A disease C1319466 Biomarker 0.01 disgenet
Barber Say syndrome POLDIP2 disease C1319466 Biomarker 0.01 disgenet
Barber Say syndrome C3 disease C1319466 AlteredExpression 0.01 disgenet
Barber Say syndrome MAPK1 disease C1319466 Biomarker 0.01 disgenet
Barber Say syndrome MAPK14 disease C1319466 Biomarker 0.01 disgenet
Barber Say syndrome AHSA1 disease C1319466 Biomarker 0.01 disgenet
Barber Say syndrome ADIPOQ disease C1319466 GeneticVariation 0.01 disgenet
Barber Say syndrome AIMP2 disease C1319466 Biomarker 0.01 disgenet
Barber Say syndrome IL1B disease C1319466 AlteredExpression 0.01 disgenet
Barber Say syndrome CASP1 disease C1319466 AlteredExpression 0.01 disgenet
Barber Say syndrome RYR1 disease C1319466 Biomarker 0.01 disgenet
Barber Say syndrome XYLT1 disease C1319466 GeneticVariation 0.01 disgenet
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