SPON1, spondin 1, 10418

N. diseases: 31; N. variants: 10
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.120 GeneticVariation disease BEFREE The rs2618516 in the spondin 1 gene (SPON1) has been associated with AD risk and brain structure in the elderly. 29573041 2018
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.120 GeneticVariation disease GWASDB Genome-wide association study of the rate of cognitive decline in Alzheimer's disease. 23535033 2014
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.120 GeneticVariation disease GWASCAT Genome-wide association study of the rate of cognitive decline in Alzheimer's disease. 23535033 2014
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.120 Biomarker disease BEFREE SPON1 has not been previously associated with AD risk, but is plausibly related because the gene product binds to the amyloid precursor protein and inhibits its cleavage by β-secretase. 23535033 2014
CUI: C0005890
Disease: Body Height
Body Height 		0.100 GeneticVariation phenotype GWASCAT Harmonizing Genetic Ancestry and Self-identified Race/Ethnicity in Genome-wide Association Studies. 31564439 2019
CUI: C0005890
Disease: Body Height
Body Height 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.100 GeneticVariation phenotype GWASCAT Genomic atlas of the human plasma proteome. 29875488 2018
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.100 GeneticVariation phenotype GWASCAT Co-regulatory networks of human serum proteins link genetics to disease. 30072576 2018
CUI: C0017741
Disease: Glucose tolerance test
Glucose tolerance test 		0.100 GeneticVariation phenotype GWASCAT Genetic determinants of circulating GIP and GLP-1 concentrations. 29093273 2017
CUI: C0337437
Disease: Glucagon measurement
Glucagon measurement 		0.100 GeneticVariation phenotype GWASCAT Genetic determinants of circulating GIP and GLP-1 concentrations. 29093273 2017
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.100 GeneticVariation phenotype GWASCAT Association analyses of East Asian individuals and trans-ancestry analyses with European individuals reveal new loci associated with cholesterol and triglyceride levels. 28334899 2017
CUI: C0523979
Disease: Vitamin D3 measurement
Vitamin D3 measurement 		0.100 GeneticVariation phenotype GWASCAT Low-Frequency Synonymous Coding Variation in CYP2R1 Has Large Effects on Vitamin D Levels and Risk of Multiple Sclerosis. 28757204 2017
CUI: C0919758
Disease: Vitamin D measurement
Vitamin D measurement 		0.100 GeneticVariation phenotype GWASCAT Low-Frequency Synonymous Coding Variation in CYP2R1 Has Large Effects on Vitamin D Levels and Risk of Multiple Sclerosis. 28757204 2017
CUI: C0201657
Disease: C-reactive protein measurement
C-reactive protein measurement 		0.100 GeneticVariation phenotype GWASDB A genome-wide association study of inflammatory biomarker changes in response to fenofibrate treatment in the Genetics of Lipid Lowering Drug and Diet Network. 22228203 2012
CUI: C0018801
Disease: Heart failure
Heart failure 		0.020 Biomarker disease BEFREE CKD was a significant interaction term in the associations of NOTCH1 and Spondin-1 with HF. 30557359 2018
CUI: C0018801
Disease: Heart failure
Heart failure 		0.020 Biomarker disease BEFREE In pooled analysis of both cohorts, higher levels of nine proteins were associated with incident heart failure after adjustment for established risk factors: growth differentiation factor 15 (GDF-15), T-cell immunoglobulin and mucin domain 1 (TIM-1), tumour necrosis factor-related apoptosis-inducing ligand receptor 2 (TRAIL-R2), spondin-1 (SPON1), matrix metalloproteinase-12 (MMP-12), follistatin (FS), urokinase-type plasminogen activator surface receptor (U-PAR), osteoprotegerin (OPG), and suppression of tumorigenicity 2 (ST2). 28967680 2018
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure 		0.020 Biomarker disease BEFREE CKD was a significant interaction term in the associations of NOTCH1 and Spondin-1 with HF. 30557359 2018
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure 		0.020 Biomarker disease BEFREE In pooled analysis of both cohorts, higher levels of nine proteins were associated with incident heart failure after adjustment for established risk factors: growth differentiation factor 15 (GDF-15), T-cell immunoglobulin and mucin domain 1 (TIM-1), tumour necrosis factor-related apoptosis-inducing ligand receptor 2 (TRAIL-R2), spondin-1 (SPON1), matrix metalloproteinase-12 (MMP-12), follistatin (FS), urokinase-type plasminogen activator surface receptor (U-PAR), osteoprotegerin (OPG), and suppression of tumorigenicity 2 (ST2). 28967680 2018
CUI: C0007103
Disease: Malignant neoplasm of endometrium
Malignant neoplasm of endometrium 		0.010 Biomarker disease BEFREE F-Spondin Is the Signal by Which 2-Methoxyestradiol Induces Apoptosis in the Endometrial Cancer Cell Line Ishikawa. 31394756 2019
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		0.010 Biomarker disease BEFREE F-Spondin Is the Signal by Which 2-Methoxyestradiol Induces Apoptosis in the Endometrial Cancer Cell Line Ishikawa. 31394756 2019
CUI: C1536220
Disease: ST segment elevation myocardial infarction
ST segment elevation myocardial infarction 		0.010 Biomarker disease BEFREE Among heparin-affected proteins in both the discovery study and the validation study were midkine, spondin 1, secreted frizzled-like protein 1, lipoprotein lipase, and follistatin, all previously associated with STEMI. 30115630 2018
CUI: C1561643
Disease: Chronic Kidney Diseases
Chronic Kidney Diseases 		0.010 Biomarker group BEFREE CKD was a significant interaction term in the associations of NOTCH1 and Spondin-1 with HF. 30557359 2018
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.010 AlteredExpression disease BEFREE Using a shotgun proteomic approach, high-mobility-group protein B1 and spondin-1 were significantly increased in T2D aorta compared to control aorta, suggesting vascular inflammation and smooth muscle proliferation, respectively. 27796656 2017
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy 		0.010 GeneticVariation disease BEFREE The genetics dataset yielded two subtypes of AD characterized mainly by the presence/absence of the apolipoprotein E (APOE) ε4 genotype, but also involving differential presence of risk alleles of CD2AP, SPON1 and LOC39095 SNPs that were associated with differences in the respective patterns of brain atrophy, especially in the precuneus. 26923371 2017
CUI: C4551584
Disease: Brain atrophy
Brain atrophy 		0.010 GeneticVariation disease BEFREE The genetics dataset yielded two subtypes of AD characterized mainly by the presence/absence of the apolipoprotein E (APOE) ε4 genotype, but also involving differential presence of risk alleles of CD2AP, SPON1 and LOC39095 SNPs that were associated with differences in the respective patterns of brain atrophy, especially in the precuneus. 26923371 2017