SPP1, secreted phosphoprotein 1, 6696

N. diseases: 824; N. variants: 13
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1126616
rs1126616
Entrez Id: 6696
Gene Symbol: SPP1
SPP1
CUI: C0024141
Disease:
Lupus Erythematosus, Systemic
0.020 GeneticVariation BEFREE A silent polymorphism (707C>T, rs1126616) of osteopontin was significantly associated with SLE. 11933203 2002
dbSNP: rs1370031102
rs1370031102
Entrez Id: 6696
Gene Symbol: SPP1
SPP1
CUI: C0024141
Disease:
Lupus Erythematosus, Systemic
0.020 GeneticVariation BEFREE A silent polymorphism (707C>T, rs1126616) of osteopontin was significantly associated with SLE. 11933203 2002
dbSNP: rs2853749
rs2853749
Entrez Id: 6696
Gene Symbol: SPP1
SPP1
CUI: C0018099
Disease:
Gout
0.700 GeneticVariation GWASDB Multiple genetic loci influence serum urate levels and their relationship with gout and cardiovascular disease risk factors. 20884846 2010
dbSNP: rs2853749
rs2853749
Entrez Id: 6696
Gene Symbol: SPP1
SPP1
CUI: C0003868
Disease:
Arthritis, Gouty
0.700 GeneticVariation GWASDB Multiple genetic loci influence serum urate levels and their relationship with gout and cardiovascular disease risk factors. 20884846 2010
dbSNP: rs1126772
rs1126772
Entrez Id: 6696
Gene Symbol: SPP1
SPP1
CUI: C0004943
Disease:
Behcet Syndrome
0.010 GeneticVariation BEFREE SNP analysis indicated an increased frequency of the OPN rs1126772 A allele in BD patients compared with controls. 21513757 2011
dbSNP: rs2728127
rs2728127
Entrez Id: 6696
Gene Symbol: SPP1
SPP1
CUI: C0010346
Disease:
Crohn Disease
0.010 GeneticVariation BEFREE Genomic DNA from 2819 Caucasian individuals (n = 841 patients with Crohn's disease (CD), n = 473 patients with ulcerative colitis (UC), and n = 1505 healthy unrelated controls) was analyzed for nine OPN SNPs (rs2728127, rs2853744, rs11730582, rs11739060, rs28357094, rs4754 = p.Asp80Asp, rs1126616 = p.Ala236Ala, rs1126772 and rs9138). 22242114 2011
dbSNP: rs4754
rs4754
Entrez Id: 6696
Gene Symbol: SPP1
SPP1
CUI: C0010346
Disease:
Crohn Disease
0.010 GeneticVariation BEFREE Genomic DNA from 2819 Caucasian individuals (n = 841 patients with Crohn's disease (CD), n = 473 patients with ulcerative colitis (UC), and n = 1505 healthy unrelated controls) was analyzed for nine OPN SNPs (rs2728127, rs2853744, rs11730582, rs11739060, rs28357094, rs4754 = p.Asp80Asp, rs1126616 = p.Ala236Ala, rs1126772 and rs9138). 22242114 2011
dbSNP: rs9138
rs9138
Entrez Id: 6696
Gene Symbol: SPP1
SPP1
CUI: C0009324
Disease:
Ulcerative Colitis
0.010 GeneticVariation BEFREE Genomic DNA from 2819 Caucasian individuals (n = 841 patients with Crohn's disease (CD), n = 473 patients with ulcerative colitis (UC), and n = 1505 healthy unrelated controls) was analyzed for nine OPN SNPs (rs2728127, rs2853744, rs11730582, rs11739060, rs28357094, rs4754 = p.Asp80Asp, rs1126616 = p.Ala236Ala, rs1126772 and rs9138). 22242114 2011
dbSNP: rs9138
rs9138
Entrez Id: 6696
Gene Symbol: SPP1
SPP1
CUI: C0010346
Disease:
Crohn Disease
0.010 GeneticVariation BEFREE Genomic DNA from 2819 Caucasian individuals (n = 841 patients with Crohn's disease (CD), n = 473 patients with ulcerative colitis (UC), and n = 1505 healthy unrelated controls) was analyzed for nine OPN SNPs (rs2728127, rs2853744, rs11730582, rs11739060, rs28357094, rs4754 = p.Asp80Asp, rs1126616 = p.Ala236Ala, rs1126772 and rs9138). 22242114 2011
dbSNP: rs28357094
rs28357094
Entrez Id: 6696
Gene Symbol: SPP1
SPP1
CUI: C0013264
Disease:
Muscular Dystrophy, Duchenne
0.050 GeneticVariation BEFREE To dissect the molecular mechanisms of increased disease severity associated with the G allele, we characterized SPP1 mRNA and protein in DMD muscle biopsies of patients with defined rs28357094 genotype. 22431140 2012
dbSNP: rs28357094
rs28357094
Entrez Id: 6696
Gene Symbol: SPP1
SPP1
CUI: C0013264
Disease:
Muscular Dystrophy, Duchenne
0.050 GeneticVariation BEFREE To test the effect of the single nucleotide polymorphism -66 T>G (rs28357094) in the osteopontin gene (SPP1) on functional measures over 12 months in Duchenne muscular dystrophy (DMD). 22744661 2012
dbSNP: rs2853749
rs2853749
Entrez Id: 6696
Gene Symbol: SPP1
SPP1
CUI: C0018099
Disease:
Gout
0.700 GeneticVariation GWASDB Genome-wide association analyses identify 18 new loci associated with serum urate concentrations. 23263486 2013
dbSNP: rs2853749
rs2853749
Entrez Id: 6696
Gene Symbol: SPP1
SPP1
CUI: C0003868
Disease:
Arthritis, Gouty
0.700 GeneticVariation GWASDB Genome-wide association analyses identify 18 new loci associated with serum urate concentrations. 23263486 2013
dbSNP: rs11730582
rs11730582
Entrez Id: 6696
Gene Symbol: SPP1
SPP1
CUI: C0035851
Disease:
Root Resorption
0.010 GeneticVariation BEFREE Osteopontin gene SNPs (rs9138, rs11730582) mediate susceptibility to external root resorption in orthodontic patients. 23614633 2014
dbSNP: rs9138
rs9138
Entrez Id: 6696
Gene Symbol: SPP1
SPP1
CUI: C0035851
Disease:
Root Resorption
0.010 GeneticVariation BEFREE Osteopontin gene SNPs (rs9138, rs11730582) mediate susceptibility to external root resorption in orthodontic patients. 23614633 2014
dbSNP: rs1126616
rs1126616
Entrez Id: 6696
Gene Symbol: SPP1
SPP1
CUI: C0451641
Disease:
Urolithiasis
0.020 GeneticVariation BEFREE Recently, OPN Ala250 (rs1126616) polymorphism and other single nucleotide polymorphisms (SNPs) have been studied to define their role in urolithiasis. 23692545 2013
dbSNP: rs11730582
rs11730582
Entrez Id: 6696
Gene Symbol: SPP1
SPP1
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.010 GeneticVariation BEFREE Our results corroborate that the osteopontin promoter SNPs -443 (rs11730582) and -1748 (rs2728127) are important for gene expression and breast cancer aggressiveness. 23900428 2013
dbSNP: rs11730582
rs11730582
Entrez Id: 6696
Gene Symbol: SPP1
SPP1
CUI: C0678222
Disease:
Breast Carcinoma
0.010 GeneticVariation BEFREE Our results corroborate that the osteopontin promoter SNPs -443 (rs11730582) and -1748 (rs2728127) are important for gene expression and breast cancer aggressiveness. 23900428 2013
dbSNP: rs2728127
rs2728127
Entrez Id: 6696
Gene Symbol: SPP1
SPP1
CUI: C0678222
Disease:
Breast Carcinoma
0.010 GeneticVariation BEFREE Our results corroborate that the osteopontin promoter SNPs -443 (rs11730582) and -1748 (rs2728127) are important for gene expression and breast cancer aggressiveness. 23900428 2013
dbSNP: rs2728127
rs2728127
Entrez Id: 6696
Gene Symbol: SPP1
SPP1
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.010 GeneticVariation BEFREE Our results corroborate that the osteopontin promoter SNPs -443 (rs11730582) and -1748 (rs2728127) are important for gene expression and breast cancer aggressiveness. 23900428 2013
dbSNP: rs1126616
rs1126616
Entrez Id: 6696
Gene Symbol: SPP1
SPP1
CUI: C0009402
Disease:
Colorectal Carcinoma
0.020 GeneticVariation BEFREE Our results suggested that the rs9138 and rs1126616 of OPN were associated with CRC risk, and the OPN protein in plasma may be a potential tumor marker of CRC. 23952692 2013
dbSNP: rs9138
rs9138
Entrez Id: 6696
Gene Symbol: SPP1
SPP1
CUI: C0009402
Disease:
Colorectal Carcinoma
0.020 GeneticVariation BEFREE Our results suggested that the rs9138 and rs1126616 of OPN were associated with CRC risk, and the OPN protein in plasma may be a potential tumor marker of CRC. 23952692 2013
dbSNP: rs9138
rs9138
Entrez Id: 6696
Gene Symbol: SPP1
SPP1
CUI: C0027651
Disease:
Neoplasms
0.020 GeneticVariation BEFREE The purpose of the present study was to explore the association of rs9138 (+1239; 3'UTR: 3'untranslated regions) and rs1126616 (+750; exon 7) polymorphisms located in the OPN gene with colorectal carcinoma (CRC) susceptibility and to investigate the correlation of the polymorphisms, plasma levels of the OPN protein, clinicopathologic parameters, tumor markers, and lipid. 23952692 2013
dbSNP: rs1126616
rs1126616
Entrez Id: 6696
Gene Symbol: SPP1
SPP1
CUI: C0027651
Disease:
Neoplasms
0.010 GeneticVariation BEFREE Our results suggested that the rs9138 and rs1126616 of OPN were associated with CRC risk, and the OPN protein in plasma may be a potential tumor marker of CRC. 23952692 2013
dbSNP: rs9138
rs9138
Entrez Id: 6696
Gene Symbol: SPP1
SPP1
CUI: C0024141
Disease:
Lupus Erythematosus, Systemic
0.010 GeneticVariation BEFREE Data on rs7574865 in the STAT4 gene and rs9138 in SPP1 were replicated for associations with SLE when comparing cases and controls (corrected P values ranging from 0.0043 to 0.027). 24023622 2013