Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Ectopia Lentis FBN1 disease C0013581 GeneticVariation 0.7 orphanet , disgenet
Ectopia Lentis FBN1 disease C0013581 Biomarker 0.7 orphanet , disgenet
Ectopia Lentis FBN1 disease C0013581 CausalMutation 0.7 orphanet , disgenet
Ectopia Lentis FBN1 disease C0013581 GermlineCausalMutation 0.7 orphanet , disgenet
Ectopia Lentis ADAMTSL4 disease C0013581 Biomarker 0.48 disgenet
Ectopia Lentis ADAMTSL4 disease C0013581 CausalMutation 0.48 disgenet
Ectopia Lentis ADAMTSL4 disease C0013581 GermlineCausalMutation 0.48 disgenet
Ectopia Lentis ADAMTSL4 disease C0013581 GeneticVariation 0.48 disgenet
Ectopia Lentis LTBP2 disease C0013581 GeneticVariation 0.15 orphanet , disgenet
Ectopia Lentis LTBP2 disease C0013581 Biomarker 0.15 orphanet , disgenet
Ectopia Lentis ADAMTS17 disease C0013581 Biomarker 0.11 disgenet
Ectopia Lentis FBN2 disease C0013581 Biomarker 0.11 disgenet
Ectopia Lentis ASPH disease C0013581 Biomarker 0.11 disgenet
Ectopia Lentis ADAMTS10 disease C0013581 Biomarker 0.11 disgenet
Ectopia Lentis ADAMTS10 disease C0013581 GeneticVariation 0.11 disgenet
Ectopia Lentis ADAMTS17 disease C0013581 GeneticVariation 0.11 disgenet
Ectopia Lentis COL2A1 disease C0013581 Biomarker 0.1 disgenet
Ectopia Lentis HSPG2 disease C0013581 Biomarker 0.1 disgenet
Ectopia Lentis SUOX disease C0013581 Biomarker 0.1 disgenet
Ectopia Lentis BCOR disease C0013581 Biomarker 0.1 disgenet
Ectopia Lentis COL5A2 disease C0013581 Biomarker 0.1 disgenet
Ectopia Lentis PORCN disease C0013581 Biomarker 0.1 disgenet
Ectopia Lentis COL18A1 disease C0013581 Biomarker 0.1 disgenet
Ectopia Lentis FOXE3 disease C0013581 Biomarker 0.1 disgenet
Ectopia Lentis CPAMD8 disease C0013581 Biomarker 0.1 disgenet
Ectopia Lentis CBS disease C0013581 Biomarker 0.1 disgenet
Ectopia Lentis MOCS2 disease C0013581 Biomarker 0.1 disgenet
Ectopia Lentis COL5A1 disease C0013581 Biomarker 0.1 disgenet
Ectopia Lentis AASS disease C0013581 Biomarker 0.1 disgenet
Ectopia Lentis COL1A1 disease C0013581 Biomarker 0.1 disgenet
Ectopia Lentis COL11A1 disease C0013581 Biomarker 0.1 disgenet
Ectopia Lentis TAP2 disease C0013581 Biomarker 0.1 disgenet
Ectopia Lentis ADAMTSL4-AS2 disease C0013581 CausalMutation 0.1 disgenet
Ectopia Lentis EXOC6B disease C0013581 Biomarker 0.1 disgenet
Ectopia Lentis B3GALT6 disease C0013581 Biomarker 0.1 disgenet
Ectopia Lentis NDP disease C0013581 Biomarker 0.1 disgenet
Ectopia Lentis TAPBP disease C0013581 Biomarker 0.1 disgenet
Ectopia Lentis TAP1 disease C0013581 Biomarker 0.1 disgenet
Ectopia Lentis EGF disease C0013581 Biomarker 0.02 disgenet
Ectopia Lentis EGF disease C0013581 GeneticVariation 0.02 disgenet
Ectopia Lentis OAF disease C0013581 Biomarker 0.01 disgenet
Ectopia Lentis TGFB2 disease C0013581 AlteredExpression 0.01 disgenet
Ectopia Lentis P3H2 disease C0013581 GeneticVariation 0.01 disgenet
Ectopia Lentis NECTIN1 disease C0013581 Biomarker 0.01 disgenet
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