Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0013581
Disease: Ectopia Lentis
Ectopia Lentis
0.110 GeneticVariation disease BEFREE Mutations in the secreted metalloproteinase ADAMTS10 cause recessive Weill-Marchesani syndrome (WMS), comprising ectopia lentis, short stature, brachydactyly, thick skin and cardiac valve anomalies. 30201140 2019
CUI: C0013581
Disease: Ectopia Lentis
Ectopia Lentis
0.110 Biomarker disease HPO