Disease: Weill-Marchesani syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0265313
Disease: Weill-Marchesani syndrome
Weill-Marchesani syndrome 		0.040 GeneticVariation disease BEFREE A novel nonsense mutation in ADAMTS17 caused autosomal recessive inheritance Weill-Marchesani syndrome from a Chinese family. 31019231 2019
CUI: C0265313
Disease: Weill-Marchesani syndrome
Weill-Marchesani syndrome 		0.040 Biomarker disease BEFREE Among them, ADAMTS17 is the causative gene of Weill-Marchesani syndrome (WMS) and Weill-Marchesani-like syndrome, of which common symptoms are ectopia lentis and short stature. 31201465 2019
CUI: C0265313
Disease: Weill-Marchesani syndrome
Weill-Marchesani syndrome 		0.040 GeneticVariation disease BEFREE Whole exome sequencing identifies a novel splice-site mutation in ADAMTS17 in an Indian family with Weill-Marchesani syndrome. 24940034 2014
CUI: C0265313
Disease: Weill-Marchesani syndrome
Weill-Marchesani syndrome 		0.040 Biomarker disease BEFREE Mutations in FBN1, ADAMTS10, or ADAMTS17 cause Weill-Marchesani syndrome by disrupting the microfibrillar environment, while geleophysic dysplasia is associated with enhanced TGF-β signaling mediated through mutations in FBN1 or ADAMTSL2. 24214363 2013