ADAMTSL1, ADAMTS like 1, 92949

N. diseases: 40; N. variants: 16
Disease: Hydrophthalmos ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0020302
Disease: Hydrophthalmos
Hydrophthalmos 		0.110 GeneticVariation disease BEFREE Identification and functional analysis of an ADAMTSL1 variant associated with a complex phenotype including congenital glaucoma, craniofacial, and other systemic features in a three-generation human pedigree. 28722276 2017
CUI: C0020302
Disease: Hydrophthalmos
Hydrophthalmos 		0.110 Biomarker disease HPO