Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Giedion Langer Syndrome TRPS1 disease C0023003 CausalMutation 0.69 orphanet , disgenet
Giedion Langer Syndrome TRPS1 disease C0023003 ChromosomalRearrangement 0.69 orphanet , disgenet
Giedion Langer Syndrome TRPS1 disease C0023003 Biomarker 0.69 orphanet , disgenet
Giedion Langer Syndrome TRPS1 disease C0023003 GeneticVariation 0.69 orphanet , disgenet
Giedion Langer Syndrome EXT1 disease C0023003 ChromosomalRearrangement 0.6 orphanet , disgenet
Giedion Langer Syndrome EXT1 disease C0023003 Biomarker 0.6 orphanet , disgenet
Giedion Langer Syndrome EXT1 disease C0023003 GeneticVariation 0.6 orphanet , disgenet
Giedion Langer Syndrome MAPK10 disease C0023003 Biomarker 0.3 disgenet
Giedion Langer Syndrome LGSN disease C0023003 GeneticVariation 0.03 disgenet
Giedion Langer Syndrome BCL9 disease C0023003 GeneticVariation 0.03 disgenet
Giedion Langer Syndrome THMA disease C0023003 Biomarker 0.02 disgenet
Giedion Langer Syndrome TG disease C0023003 GeneticVariation 0.02 disgenet
Giedion Langer Syndrome BMP1 disease C0023003 Biomarker 0.02 disgenet
Giedion Langer Syndrome TRP-AGG2-6 disease C0023003 Biomarker 0.01 disgenet
Giedion Langer Syndrome VIM disease C0023003 AlteredExpression 0.01 disgenet
Giedion Langer Syndrome RANBP2 disease C0023003 Biomarker 0.01 disgenet
Giedion Langer Syndrome GLI3 disease C0023003 Biomarker 0.01 disgenet
Giedion Langer Syndrome GABRA1 disease C0023003 GeneticVariation 0.01 disgenet
Giedion Langer Syndrome EJM2 disease C0023003 GeneticVariation 0.01 disgenet
Giedion Langer Syndrome SHFM3 disease C0023003 Biomarker 0.01 disgenet
Giedion Langer Syndrome DCT disease C0023003 Biomarker 0.01 disgenet
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