Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Hypochondroplasia FGFR3 disease C0410529 AlteredExpression 0.8 orphanet , disgenet
Hypochondroplasia FGFR3 disease C0410529 CausalMutation 0.8 orphanet , disgenet
Hypochondroplasia FGFR3 disease C0410529 Biomarker 0.8 orphanet , disgenet
Hypochondroplasia FGFR3 disease C0410529 GermlineCausalMutation 0.8 orphanet , disgenet
Hypochondroplasia FGFR3 disease C0410529 GeneticVariation 0.8 orphanet , disgenet
Hypochondroplasia GH1 disease C0410529 GeneticVariation 0.03 disgenet
Hypochondroplasia GH1 disease C0410529 Biomarker 0.03 disgenet
Hypochondroplasia IGF1 disease C0410529 Biomarker 0.02 disgenet
Hypochondroplasia IGF1 disease C0410529 GeneticVariation 0.02 disgenet
Hypochondroplasia SHOX disease C0410529 GeneticVariation 0.02 disgenet
Hypochondroplasia FGFR2 disease C0410529 Biomarker 0.01 disgenet
Hypochondroplasia GALNT2 disease C0410529 GeneticVariation 0.01 disgenet
Hypochondroplasia BGLAP disease C0410529 Biomarker 0.01 disgenet
Hypochondroplasia ALPL disease C0410529 GeneticVariation 0.01 disgenet
Hypochondroplasia ZPR1 disease C0410529 GeneticVariation 0.01 disgenet
Hypochondroplasia DOCK7 disease C0410529 GeneticVariation 0.01 disgenet
Hypochondroplasia PCSK9 disease C0410529 GeneticVariation 0.01 disgenet
Hypochondroplasia FGF3 disease C0410529 GeneticVariation 0.01 disgenet
Hypochondroplasia FGFR1 disease C0410529 Biomarker 0.01 disgenet
Hypochondroplasia NPPC disease C0410529 Biomarker 0.01 disgenet
Hypochondroplasia LDLR disease C0410529 GeneticVariation 0.01 disgenet
Hypochondroplasia BUD13 disease C0410529 GeneticVariation 0.01 disgenet
click here to return to the previous page