Disease: Dwarfism ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.120 GeneticVariation disease BEFREE Mutations in fibrillin-1 or ADAMTS10 cause Weill-Marchesani syndrome (WMS) characterized by short stature, eye defects, hypermuscularity and thickened skin. 30060141 2018
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.120 GeneticVariation disease BEFREE We identified a homozygous missense mutation, c.41T>A, of the ADAMTS10 gene in a 19-year-old female with typical symptoms of WMS1: proportionate short stature, brachydactyly, joint stiffness, and microspherophakia. 25469541 2015
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.120 Biomarker disease HPO