Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Ectopia lentis isolated FBN1 disease C1851286 GermlineCausalMutation 0.4 orphanet , disgenet
Ectopia lentis isolated FBN1 disease C1851286 Biomarker 0.4 orphanet , disgenet
Ectopia lentis isolated FBN1 disease C1851286 GeneticVariation 0.4 orphanet , disgenet
Ectopia lentis isolated ADAMTSL4 disease C1851286 Biomarker 0.38 orphanet , disgenet
Ectopia lentis isolated ADAMTSL4 disease C1851286 GermlineCausalMutation 0.38 orphanet , disgenet
Ectopia lentis isolated ADAMTSL4 disease C1851286 GeneticVariation 0.38 orphanet , disgenet
Ectopia lentis isolated ADAMTS17 disease C1851286 Biomarker 0.02 disgenet
Ectopia lentis isolated ADAMTSL2 disease C1851286 Biomarker 0.02 disgenet
Ectopia lentis isolated LTBP2 disease C1851286 Biomarker 0.01 disgenet
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