Disease: MYOPIA 23, AUTOSOMAL RECESSIVE ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3809482
Disease: MYOPIA 23, AUTOSOMAL RECESSIVE
MYOPIA 23, AUTOSOMAL RECESSIVE 		0.700 Biomarker disease CLINGEN Clinical Characterization of LRPAP1-Related Pediatric High Myopia. 26271838 2016
CUI: C3809482
Disease: MYOPIA 23, AUTOSOMAL RECESSIVE
MYOPIA 23, AUTOSOMAL RECESSIVE 		0.700 Biomarker disease CLINGEN 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: C3809482
Disease: MYOPIA 23, AUTOSOMAL RECESSIVE
MYOPIA 23, AUTOSOMAL RECESSIVE 		0.700 Biomarker disease CLINGEN Mutations in LRPAP1 are associated with severe myopia in humans. 23830514 2013
CUI: C3809482
Disease: MYOPIA 23, AUTOSOMAL RECESSIVE
MYOPIA 23, AUTOSOMAL RECESSIVE 		0.700 Biomarker disease GENOMICS_ENGLAND Mutations in LRPAP1 are associated with severe myopia in humans. 23830514 2013
CUI: C3809482
Disease: MYOPIA 23, AUTOSOMAL RECESSIVE
MYOPIA 23, AUTOSOMAL RECESSIVE 		0.700 Biomarker disease CLINGEN The 39-kDa receptor-associated protein interacts with two members of the low density lipoprotein receptor family, alpha 2-macroglobulin receptor and glycoprotein 330. 1400426 1992
CUI: C3809482
Disease: MYOPIA 23, AUTOSOMAL RECESSIVE
MYOPIA 23, AUTOSOMAL RECESSIVE 		0.700 Biomarker disease CTD_human
CUI: C3809482
Disease: MYOPIA 23, AUTOSOMAL RECESSIVE
MYOPIA 23, AUTOSOMAL RECESSIVE 		0.700 CausalMutation disease CLINVAR