ADAMTSL4, ADAMTS like 4, 54507

N. diseases: 39; N. variants: 9
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1720383
Disease: Simple ectopia lentis
Simple ectopia lentis
0.010 GeneticVariation disease BEFREE We conclude that mutations in ADAMTSL4 are responsible for autosomal-recessive simple ectopia lentis and that ADAMTS-like4 plays a role in the development and/or integrity of the zonular fibers. 19200529 2009