THBS1, thrombospondin 1, 7057

N. diseases: 480; N. variants: 10
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs12912082
rs12912082
Entrez Id: 7057;161835
Gene Symbol: THBS1;FSIP1
THBS1;FSIP1
CUI: C0024534
Disease:
Malaria, Cerebral
0.010 GeneticVariation BEFREE The THBS1 haplotype CCCCA (rs1478604, rs7170682, rs2664141, rs12912082, rs3743125) was a risk factor in the endemic region (relative risk = 3.78) and an ESEL SNP (rs5368, His468Tyr) associated with cerebral malaria (CM) [CM vs. non-cerebral malaria (NCM), odds ratio (OR) = 2.23, p = 0.03]. 26194693 2015
dbSNP: rs1478604
rs1478604
Entrez Id: 7057
Gene Symbol: THBS1
THBS1
CUI: C0024534
Disease:
Malaria, Cerebral
0.010 GeneticVariation BEFREE The THBS1 haplotype CCCCA (rs1478604, rs7170682, rs2664141, rs12912082, rs3743125) was a risk factor in the endemic region (relative risk = 3.78) and an ESEL SNP (rs5368, His468Tyr) associated with cerebral malaria (CM) [CM vs. non-cerebral malaria (NCM), odds ratio (OR) = 2.23, p = 0.03]. 26194693 2015
dbSNP: rs2664141
rs2664141
Entrez Id: 7057
Gene Symbol: THBS1
THBS1
CUI: C0024534
Disease:
Malaria, Cerebral
0.010 GeneticVariation BEFREE The THBS1 haplotype CCCCA (rs1478604, rs7170682, rs2664141, rs12912082, rs3743125) was a risk factor in the endemic region (relative risk = 3.78) and an ESEL SNP (rs5368, His468Tyr) associated with cerebral malaria (CM) [CM vs. non-cerebral malaria (NCM), odds ratio (OR) = 2.23, p = 0.03]. 26194693 2015
dbSNP: rs3743125
rs3743125
Entrez Id: 7057;161835
Gene Symbol: THBS1;FSIP1
THBS1;FSIP1
CUI: C0024534
Disease:
Malaria, Cerebral
0.010 GeneticVariation BEFREE The THBS1 haplotype CCCCA (rs1478604, rs7170682, rs2664141, rs12912082, rs3743125) was a risk factor in the endemic region (relative risk = 3.78) and an ESEL SNP (rs5368, His468Tyr) associated with cerebral malaria (CM) [CM vs. non-cerebral malaria (NCM), odds ratio (OR) = 2.23, p = 0.03]. 26194693 2015
dbSNP: rs1478604
rs1478604
Entrez Id: 7057
Gene Symbol: THBS1
THBS1
CUI: C0022573
Disease:
Keratoconjunctivitis
0.010 GeneticVariation BEFREE Carriers of the rs1478604 minor allele expressed significantly reduced levels of thrombospondin 1 (TSP1) (P = 0.042) and increased levels of an inflammatory cytokine associated with keratoconjunctivitis, interleukin-1β (P = 0.025), in their ocular surface epithelial cells compared with homozygous major allele controls. 24679443 2014
dbSNP: rs1478604
rs1478604
Entrez Id: 7057
Gene Symbol: THBS1
THBS1
CUI: C1281914
Disease:
Corneal allograft rejection
0.010 GeneticVariation BEFREE The TSP-1 rs1478604 A SNP was associated significantly with an increased risk of corneal allograft rejection (odds ratio [OR], 1.58; 95% confidence interval [CI], 1.02-2.45; P = 0.04) and there was a trend toward the rs1478604, rs2228261, rs2228262 ACA haplotype increasing risk of rejection. 24618326 2014
dbSNP: rs2228261
rs2228261
Entrez Id: 7057
Gene Symbol: THBS1
THBS1
CUI: C1281914
Disease:
Corneal allograft rejection
0.010 GeneticVariation BEFREE The TSP-1 rs1478604 A SNP was associated significantly with an increased risk of corneal allograft rejection (odds ratio [OR], 1.58; 95% confidence interval [CI], 1.02-2.45; P = 0.04) and there was a trend toward the rs1478604, rs2228261, rs2228262 ACA haplotype increasing risk of rejection. 24618326 2014
dbSNP: rs2228262
rs2228262
Entrez Id: 7057;161835
Gene Symbol: THBS1;FSIP1
THBS1;FSIP1
CUI: C1281914
Disease:
Corneal allograft rejection
0.010 GeneticVariation BEFREE The TSP-1 rs1478604 A SNP was associated significantly with an increased risk of corneal allograft rejection (odds ratio [OR], 1.58; 95% confidence interval [CI], 1.02-2.45; P = 0.04) and there was a trend toward the rs1478604, rs2228261, rs2228262 ACA haplotype increasing risk of rejection. 24618326 2014
dbSNP: rs2228262
rs2228262
Entrez Id: 7057;161835
Gene Symbol: THBS1;FSIP1
THBS1;FSIP1
CUI: C0022573
Disease:
Keratoconjunctivitis
0.010 GeneticVariation BEFREE Carriers of minor alleles of 3 SNPs each were found to be more susceptible to developing chronic keratoconjunctivitis (rs1478604: odds ratio [OR], 2.5; 95% confidence interval [CI], 1.41-4.47; P = 2.5 × 10(-3); rs2228262 and rs2292305: OR, 1.9; 95% CI, 1.05-3.51; P = 4.8 × 10(-2)). 24679443 2014
dbSNP: rs2292305
rs2292305
Entrez Id: 7057;161835
Gene Symbol: THBS1;FSIP1
THBS1;FSIP1
CUI: C0022573
Disease:
Keratoconjunctivitis
0.010 GeneticVariation BEFREE Carriers of minor alleles of 3 SNPs each were found to be more susceptible to developing chronic keratoconjunctivitis (rs1478604: odds ratio [OR], 2.5; 95% confidence interval [CI], 1.41-4.47; P = 2.5 × 10(-3); rs2228262 and rs2292305: OR, 1.9; 95% CI, 1.05-3.51; P = 4.8 × 10(-2)). 24679443 2014
dbSNP: rs2292305
rs2292305
Entrez Id: 7057;161835
Gene Symbol: THBS1;FSIP1
THBS1;FSIP1
CUI: C0004352
Disease:
Autistic Disorder
0.010 GeneticVariation BEFREE Among them, one common variant (c.1567A>G:p.T523A) was significantly associated with autism (P<0.05). 25304225 2014
dbSNP: rs2664139
rs2664139
Entrez Id: 7057
Gene Symbol: THBS1
THBS1
CUI: C0699885
Disease:
Carcinoma of bladder
0.010 GeneticVariation BEFREE We investigated the relationship between the distribution of the TSP-1 -696 C/T polymorphism (rs2664139) and the clinical features of bladder cancer. 25150583 2014
dbSNP: rs2664139
rs2664139
Entrez Id: 7057
Gene Symbol: THBS1
THBS1
CUI: C0005684
Disease:
Malignant neoplasm of urinary bladder
0.010 GeneticVariation BEFREE We investigated the relationship between the distribution of the TSP-1 -696 C/T polymorphism (rs2664139) and the clinical features of bladder cancer. 25150583 2014
dbSNP: rs2664139
rs2664139
Entrez Id: 7057
Gene Symbol: THBS1
THBS1
CUI: C0005695
Disease:
Bladder Neoplasm
0.010 GeneticVariation BEFREE We investigated the relationship between the distribution of the TSP-1 -696 C/T polymorphism (rs2664139) and the clinical features of bladder cancer. 25150583 2014
dbSNP: rs1478604
rs1478604
Entrez Id: 7057
Gene Symbol: THBS1
THBS1
CUI: C0027627
Disease:
Neoplasm Metastasis
0.010 GeneticVariation BEFREE These findings indicate that the THBS1 rs1478604 A>G variant is linked with differential risks for gastric cancer nodal metastasis. 22011138 2012
dbSNP: rs1478604
rs1478604
Entrez Id: 7057
Gene Symbol: THBS1
THBS1
CUI: C0686619
Disease:
Secondary malignant neoplasm of lymph node
0.010 GeneticVariation BEFREE After logistic regression and stratification analysis, rs1478604 A>G was more strongly associated with lymph node metastasis in HDC gastric cancer. 22011138 2012
dbSNP: rs1478604
rs1478604
Entrez Id: 7057
Gene Symbol: THBS1
THBS1
CUI: C1269955
Disease:
Tumor Cell Invasion
0.010 GeneticVariation BEFREE The rs1478604 A>G variant was found to be associated with invasion and lymph node metastasis in gastric cancer. 22011138 2012
dbSNP: rs1478604
rs1478604
Entrez Id: 7057
Gene Symbol: THBS1
THBS1
CUI: C0699791
Disease:
Stomach Carcinoma
0.010 GeneticVariation BEFREE After logistic regression and stratification analysis, rs1478604 A>G was more strongly associated with lymph node metastasis in HDC gastric cancer. 22011138 2012
dbSNP: rs1478604
rs1478604
Entrez Id: 7057
Gene Symbol: THBS1
THBS1
CUI: C0024623
Disease:
Malignant neoplasm of stomach
0.010 GeneticVariation BEFREE After logistic regression and stratification analysis, rs1478604 A>G was more strongly associated with lymph node metastasis in HDC gastric cancer. 22011138 2012
dbSNP: rs2228261
rs2228261
Entrez Id: 7057
Gene Symbol: THBS1
THBS1
CUI: C0036341
Disease:
Schizophrenia
0.010 GeneticVariation BEFREE Additionally, in the analysis of the haplotype, the CA and TG haplotypes consisting of rs2228261 and rs2292305 were associated with schizophrenia in the dominant (P = 0.019, OR = 1.79, 95% CI = 1.10-2.90) and recessive models, respectively (P = 0.0086, OR = 0.51, 95% CI = 0.31-0.84). 22311024 2012
dbSNP: rs2292305
rs2292305
Entrez Id: 7057;161835
Gene Symbol: THBS1;FSIP1
THBS1;FSIP1
CUI: C0036341
Disease:
Schizophrenia
0.010 GeneticVariation BEFREE Additionally, in the analysis of the haplotype, the CA and TG haplotypes consisting of rs2228261 and rs2292305 were associated with schizophrenia in the dominant (P = 0.019, OR = 1.79, 95% CI = 1.10-2.90) and recessive models, respectively (P = 0.0086, OR = 0.51, 95% CI = 0.31-0.84). 22311024 2012
dbSNP: rs747370442
rs747370442
Entrez Id: 7057
Gene Symbol: THBS1
THBS1
CUI: C0027651
Disease:
Neoplasms
0.010 GeneticVariation BEFREE To examine the tumor suppressor function of FLCN, wild-type or mutant FLCN (H255R) was stably expressed in a FLCN-null renal tumor cell line, UOK257, derived from a BHD patient. 20573232 2010
dbSNP: rs747370442
rs747370442
Entrez Id: 7057
Gene Symbol: THBS1
THBS1
CUI: C0346010
Disease:
Multiple fibrofolliculomas
0.010 GeneticVariation BEFREE To examine the tumor suppressor function of FLCN, wild-type or mutant FLCN (H255R) was stably expressed in a FLCN-null renal tumor cell line, UOK257, derived from a BHD patient. 20573232 2010
dbSNP: rs747370442
rs747370442
Entrez Id: 7057
Gene Symbol: THBS1
THBS1
CUI: C1840572
Disease:
HIP DYSPLASIA, BEUKES TYPE
0.010 GeneticVariation BEFREE To examine the tumor suppressor function of FLCN, wild-type or mutant FLCN (H255R) was stably expressed in a FLCN-null renal tumor cell line, UOK257, derived from a BHD patient. 20573232 2010
dbSNP: rs2228262
rs2228262
Entrez Id: 7057;161835
Gene Symbol: THBS1;FSIP1
THBS1;FSIP1
CUI: C0376358
Disease:
Malignant neoplasm of prostate
0.010 GeneticVariation BEFREE In this respect, we investigated the impact of functional genetic variants of TSP1 (N700S) and MMP9 (-1562 C/T) genes on the development and progression of PCa. 17175378 2007