Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Loeys-Dietz Syndrome TGFBR2 disease C2697932 GermlineCausalMutation 1 orphanet , disgenet
Loeys-Dietz Syndrome TGFBR2 disease C2697932 AlteredExpression 1 orphanet , disgenet
Loeys-Dietz Syndrome TGFBR1 disease C2697932 GermlineCausalMutation 1 orphanet , disgenet
Loeys-Dietz Syndrome TGFBR2 disease C2697932 Biomarker 1 orphanet , disgenet
Loeys-Dietz Syndrome TGFBR1 disease C2697932 GeneticVariation 1 orphanet , disgenet
Loeys-Dietz Syndrome TGFBR2 disease C2697932 CausalMutation 1 orphanet , disgenet
Loeys-Dietz Syndrome TGFBR1 disease C2697932 CausalMutation 1 orphanet , disgenet
Loeys-Dietz Syndrome TGFBR2 disease C2697932 GeneticVariation 1 orphanet , disgenet
Loeys-Dietz Syndrome TGFBR1 disease C2697932 Biomarker 1 orphanet , disgenet
Loeys-Dietz Syndrome TGFB2 disease C2697932 Biomarker 0.89 disgenet
Loeys-Dietz Syndrome TGFB2 disease C2697932 GeneticVariation 0.89 disgenet
Loeys-Dietz Syndrome SMAD3 disease C2697932 Biomarker 0.68 disgenet
Loeys-Dietz Syndrome SMAD3 disease C2697932 GeneticVariation 0.68 disgenet
Loeys-Dietz Syndrome TGFB3 disease C2697932 Biomarker 0.53 disgenet
Loeys-Dietz Syndrome TGFB3 disease C2697932 GeneticVariation 0.53 disgenet
Loeys-Dietz Syndrome COL3A1 disease C2697932 GeneticVariation 0.41 disgenet
Loeys-Dietz Syndrome COL3A1 disease C2697932 Biomarker 0.41 disgenet
Loeys-Dietz Syndrome SMAD2 disease C2697932 Biomarker 0.33 disgenet
Loeys-Dietz Syndrome SMAD2 disease C2697932 GeneticVariation 0.33 disgenet
Loeys-Dietz Syndrome FBN1 disease C2697932 Biomarker 0.18 disgenet
Loeys-Dietz Syndrome FBN1 disease C2697932 GeneticVariation 0.18 disgenet
Loeys-Dietz Syndrome FBN1 disease C2697932 CausalMutation 0.18 disgenet
Loeys-Dietz Syndrome ELN disease C2697932 AlteredExpression 0.02 disgenet
Loeys-Dietz Syndrome TGFB1 disease C2697932 Biomarker 0.02 disgenet
Loeys-Dietz Syndrome SLC2A10 disease C2697932 Biomarker 0.01 disgenet
Loeys-Dietz Syndrome SLC2A11 disease C2697932 Biomarker 0.01 disgenet
Loeys-Dietz Syndrome CNC2 disease C2697932 Biomarker 0.01 disgenet
Loeys-Dietz Syndrome IDUA disease C2697932 Biomarker 0.01 disgenet
Loeys-Dietz Syndrome PRKAR1A disease C2697932 Biomarker 0.01 disgenet
Loeys-Dietz Syndrome AGT disease C2697932 Biomarker 0.01 disgenet
Loeys-Dietz Syndrome SLC8A1 disease C2697932 Biomarker 0.01 disgenet
Loeys-Dietz Syndrome SHF disease C2697932 Biomarker 0.01 disgenet
Loeys-Dietz Syndrome AKT1 disease C2697932 Biomarker 0.01 disgenet
Loeys-Dietz Syndrome GREM1 disease C2697932 AlteredExpression 0.01 disgenet
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