Disease: Rare isolated myopia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4751232
Disease: Rare isolated myopia
Rare isolated myopia 		0.100 GeneticVariation disease CLINVAR Clinical Characterization of LRPAP1-Related Pediatric High Myopia. 26271838 2016
CUI: C4751232
Disease: Rare isolated myopia
Rare isolated myopia 		0.100 GeneticVariation disease CLINVAR Detection of mutations in LRPAP1, CTSH, LEPREL1, ZNF644, SLC39A5, and SCO2 in 298 families with early-onset high myopia by exome sequencing. 25525168 2014
CUI: C4751232
Disease: Rare isolated myopia
Rare isolated myopia 		0.100 GeneticVariation disease CLINVAR Mutations in LRPAP1 are associated with severe myopia in humans. 23830514 2013