Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4748658
Disease: INTELLECTUAL DEVELOPMENTAL DISORDER AND RETINITIS PIGMENTOSA
INTELLECTUAL DEVELOPMENTAL DISORDER AND RETINITIS PIGMENTOSA 		0.600 GeneticVariation disease CLINVAR
CUI: C4748658
Disease: INTELLECTUAL DEVELOPMENTAL DISORDER AND RETINITIS PIGMENTOSA
INTELLECTUAL DEVELOPMENTAL DISORDER AND RETINITIS PIGMENTOSA 		0.600 GeneticVariation disease UNIPROT Mutations in SCAPER cause autosomal recessive retinitis pigmentosa with intellectual disability. 28794130 2017
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.410 GeneticVariation disease BEFREE Our findings, based on linkage analysis and exome sequencing studies of two remotely related large consanguineous families, are in line with recent reports of SCAPER variants associated with intellectual disability and retinitis pigmentosa. 30723319 2019
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.410 GeneticVariation group BEFREE Our findings, based on linkage analysis and exome sequencing studies of two remotely related large consanguineous families, are in line with recent reports of SCAPER variants associated with intellectual disability and retinitis pigmentosa. 30723319 2019
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		0.110 GeneticVariation disease BEFREE When applied to a genome-wide case-control data set for Age-related Macular Degeneration (AMD), the proposed approach successfully identifies two known susceptible loci and suggests that a combination of two other loci -- one in the gene SGCD and the other in SCAPER -- is associated with the disease. 19412524 2009
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.100 GeneticVariation phenotype GWASCAT A catalog of genetic loci associated with kidney function from analyses of a million individuals. 31152163 2019
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.100 GeneticVariation disease GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959 2017
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		0.100 GeneticVariation disease CLINVAR
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		0.100 GeneticVariation disease CLINVAR
CUI: C0202239
Disease: Uric acid measurement (procedure)
Uric acid measurement (procedure) 		0.100 GeneticVariation phenotype GWASCAT Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels. 31578528 2019
CUI: C0392557
Disease: Nuclear cataract
Nuclear cataract 		0.100 GeneticVariation disease CLINVAR
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C1304746
Disease: RDW - Red blood cell distribution width result
RDW - Red blood cell distribution width result 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C4072872
Disease: obsolete Rod-cone dystrophy
obsolete Rod-cone dystrophy 		0.100 GeneticVariation disease CLINVAR
CUI: C4317009
Disease: Diverticular Diseases
Diverticular Diseases 		0.100 GeneticVariation group GWASCAT Genome-wide association analyses identify 39 new susceptibility loci for diverticular disease. 30177863 2018
CUI: C0334431
Disease: Melanocytoma
Melanocytoma 		0.010 GeneticVariation disease BEFREE A pediatric case of pigmented epithelioid melanocytoma with chromosomal copy number alterations in 15q and 17q and a novel NTRK3-SCAPER gene fusion. 31437301 2020
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.010 GeneticVariation disease BEFREE SCAPER localizes to primary cilia and its mutation affects cilia length, causing Bardet-Biedl syndrome. 30723319 2019
CUI: C4748658
Disease: INTELLECTUAL DEVELOPMENTAL DISORDER AND RETINITIS PIGMENTOSA
INTELLECTUAL DEVELOPMENTAL DISORDER AND RETINITIS PIGMENTOSA 		0.600 Biomarker disease GENOMICS_ENGLAND Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease. 28041643 2017
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.410 Biomarker group CTD_human Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 21937992 2011
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.410 Biomarker group HPO
CUI: C0020796
Disease: Profound Mental Retardation
Profound Mental Retardation 		0.300 Biomarker disease CTD_human Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 21937992 2011
CUI: C0025363
Disease: Mental Retardation, Psychosocial
Mental Retardation, Psychosocial 		0.300 Biomarker phenotype CTD_human Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 21937992 2011
CUI: C0917816
Disease: Mental deficiency
Mental deficiency 		0.300 Biomarker disease CTD_human Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 21937992 2011
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		0.110 Biomarker disease HPO
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.100 Biomarker disease HPO