Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4015610
Disease: OSTEOGENESIS IMPERFECTA, TYPE XVI
OSTEOGENESIS IMPERFECTA, TYPE XVI 		0.400 Biomarker disease GENOMICS_ENGLAND A homozygous pathogenic missense variant broadens the phenotypic and mutational spectrum of CREB3L1-related osteogenesis imperfecta. 30657919 2019
CUI: C4015610
Disease: OSTEOGENESIS IMPERFECTA, TYPE XVI
OSTEOGENESIS IMPERFECTA, TYPE XVI 		0.400 CausalMutation disease CLINVAR
CUI: C0268362
Disease: Osteogenesis imperfecta type III (disorder)
Osteogenesis imperfecta type III (disorder) 		0.300 GermlineCausalMutation disease ORPHANET Deficiency for the ER-stress transducer OASIS causes severe recessive osteogenesis imperfecta in humans. 24079343 2013
CUI: C3714524
Disease: Fibromyxosarcoma
Fibromyxosarcoma 		0.300 FusionGene disease ORPHANET
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta 		0.150 GeneticVariation disease BEFREE Deficiency of OASIS is linked to a severe form of autosomal recessive osteogenesis imperfecta (OI), but only few patients have been reported. 30657919 2019
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta 		0.150 GeneticVariation disease BEFREE We report a novel homozygous CREB3L1 mutation in a large Indonesian family; the homozygous affected members have survived to adulthood and they present a more severe phenotype than previously reported, expanding the clinical spectrum of OI for this gene. 31207160 2019
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta 		0.150 Biomarker disease BEFREE Here, we expand the clinical spectrum by a detailed phenotypic characterization of the first case of OASIS-associated OI surviving the neonatal period, with heterozygous family members being unaffected. 29936144 2018
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta 		0.150 GeneticVariation disease BEFREE We sought the genetic cause of mild and lethal OI phenotypes in an unsolved family.MethodsWe performed exome sequencing on seven members of the family, both affected and unaffected.ResultsWe identified a variant in cyclic AMP responsive element binding protein 3-like 1 (CREB3L1) in a consanguineous family. 28817112 2018
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta 		0.150 Biomarker disease BEFREE This is the first report linking CREB3L1 to human recessive OI, thereby expanding the OI gene spectrum. 24079343 2013
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta 		0.150 CausalMutation disease CLINVAR
CUI: C0029453
Disease: Osteopenia
Osteopenia 		0.110 AlteredExpression disease BEFREE OASIS is a transcription factor highly expressed in osteoblasts, and OASIS<sup>-/-</sup> mice exhibit severe osteopenia and spontaneous fractures. 29936144 2018
CUI: C0029453
Disease: Osteopenia
Osteopenia 		0.110 Biomarker disease HPO
CUI: C0029453
Disease: Osteopenia
Osteopenia 		0.110 CausalMutation disease CLINVAR
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C1704436
Disease: Peripheral Arterial Diseases
Peripheral Arterial Diseases 		0.100 GeneticVariation group GWASCAT Genome-wide association study of peripheral artery disease in the Million Veteran Program. 31285632 2019
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.100 GeneticVariation phenotype GWASCAT Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program. 30275531 2018
CUI: C0525045
Disease: Mood Disorders
Mood Disorders 		0.100 GeneticVariation group GWASCAT Meta-analysis of genome-wide association studies for neuroticism in 449,484 individuals identifies novel genetic loci and pathways. 29942085 2018
CUI: C0596887
Disease: mathematical ability
mathematical ability 		0.100 GeneticVariation phenotype GWASCAT Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals. 30038396 2018
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder 		0.100 GeneticVariation disease GWASCAT Meta-analysis of genome-wide association studies for neuroticism in 449,484 individuals identifies novel genetic loci and pathways. 29942085 2018
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: C0428568
Disease: Fasting blood glucose measurement
Fasting blood glucose measurement 		0.100 GeneticVariation phenotype GWASCAT A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance. 22581228 2012
CUI: C0018777
Disease: Conductive hearing loss
Conductive hearing loss 		0.100 Biomarker disease HPO
CUI: C0086437
Disease: Joint laxity
Joint laxity 		0.100 Biomarker phenotype HPO
CUI: C0235991
Disease: Small for gestational age (disorder)
Small for gestational age (disorder) 		0.100 Biomarker phenotype HPO
CUI: C0262431
Disease: Compression fracture of vertebral column
Compression fracture of vertebral column 		0.100 Biomarker phenotype HPO