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
CUI: C0027092
Disease: Myopia
Myopia 		0.310 GermlineCausalMutation disease ORPHANET Mutations in LRPAP1 are associated with severe myopia in humans. 23830514 2013
CUI: C0027092
Disease: Myopia
Myopia 		0.310 GeneticVariation disease BEFREE We have identified Mendelian forms of myopia in four consanguineous families and implemented exome/autozygome analysis to identify homozygous truncating variants in LRPAP1 and CTSH as the likely causal mutations. 23830514 2013
CUI: C0017665
Disease: Membranous glomerulonephritis
Membranous glomerulonephritis 		0.200 Biomarker disease RGD Transcription and translation of gp600 and receptor-associated protein (RAP) in active Heymann nephritis. 7778686 1995
CUI: C0017665
Disease: Membranous glomerulonephritis
Membranous glomerulonephritis 		0.200 Biomarker disease RGD Role of receptor-associated 39/45 kD protein in active Heymann nephritis. 7723231 1995
CUI: C0271183
Disease: Severe myopia
Severe myopia 		0.120 GeneticVariation disease BEFREE Our results provide additional evidence to support the idea that mutation in LRPAP1 is associated with high myopia. 25525168 2014
CUI: C0271183
Disease: Severe myopia
Severe myopia 		0.120 GeneticVariation disease BEFREE Mutations in LRPAP1 are associated with severe myopia in humans. 23830514 2013
CUI: C0271183
Disease: Severe myopia
Severe myopia 		0.120 Biomarker disease HPO
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		0.110 GeneticVariation disease GWASDB Association of a polymorphism of BTN2A1 with myocardial infarction in East Asian populations. 21211798 2011
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		0.110 GeneticVariation disease BEFREE According to our data, the variation at the LRPAP1 gene could contribute to the risk of developing an early episode of MI. 12394648 2002
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
CUI: C0234632
Disease: Reduced visual acuity
Reduced visual acuity 		0.100 Biomarker phenotype HPO
CUI: C1835117
Disease: Increased axial length of the globe
Increased axial length of the globe 		0.100 Biomarker phenotype HPO
CUI: C3665347
Disease: Visual Impairment
Visual Impairment 		0.100 Biomarker phenotype HPO
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.050 Biomarker group BEFREE DIRAS3 is an imprinted tumor suppressor gene that encodes a 26-kDa GTPase that shares 60% homology to RAS and RAP. 29368982 2018
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.050 Biomarker group BEFREE Diminution of ALK1 gene dosage or systemic treatment with the ALK1-Fc fusion protein RAP-041 retarded tumor growth and progression by inhibition of angiogenesis in a transgenic mouse model of multistep tumorigenesis. 20065063 2010
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.050 Biomarker group BEFREE More tumors stained intensely with MoAb RAP-5 than with MoAb RAS-10. 2407334 1990