Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0265313
Disease: Weill-Marchesani syndrome
Weill-Marchesani syndrome
0.520 GeneticVariation disease BEFREE Mutations in LTBP2 are known to cause the Weill-Marchesani syndrome and a Weill-Marchesani-like syndrome, which include glaucoma in their clinical presentation. 30380740 2018
CUI: C0265313
Disease: Weill-Marchesani syndrome
Weill-Marchesani syndrome
0.520 Biomarker disease BEFREE Various factors prompted considering LTBP2 in the etiology of isolated ectopia lentis and associated conditions such as Weill-Marchesani syndrome (WMS) and Marfan syndrome (MFS). 22539340 2012
CUI: C0265313
Disease: Weill-Marchesani syndrome
Weill-Marchesani syndrome
0.520 GermlineCausalMutation disease ORPHANET Various factors prompted considering LTBP2 in the etiology of isolated ectopia lentis and associated conditions such as Weill-Marchesani syndrome (WMS) and Marfan syndrome (MFS). 22539340 2012
CUI: C0265313
Disease: Weill-Marchesani syndrome
Weill-Marchesani syndrome
0.520 Biomarker disease CTD_human