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: rs2228262
rs2228262
Entrez Id: 7057;161835
Gene Symbol: THBS1;FSIP1
THBS1;FSIP1
CUI: C1956346
Disease:
Coronary Artery Disease
0.040 GeneticVariation BEFREE We conclude that a relationship between the THBS-1 N700S polymorphism and premature CAD is unlikely. 12482844 2002
dbSNP: rs2228262
rs2228262
Entrez Id: 7057;161835
Gene Symbol: THBS1;FSIP1
THBS1;FSIP1
CUI: C0027051
Disease:
Myocardial Infarction
0.040 GeneticVariation BEFREE Recently, polymorphisms in thrombospondin (THBS) genes coding for THBS-1 (N700S), THBS-2 (T>G substitution in 3'-untranslated region), and THBS-4 (A387P) genes were proposed to modulate the risk of premature coronary artery disease (CAD) or myocardial infarction (MI). 12482844 2002
dbSNP: rs2228262
rs2228262
Entrez Id: 7057;161835
Gene Symbol: THBS1;FSIP1
THBS1;FSIP1
CUI: C1867743
Disease:
Premature coronary artery atherosclerosis
0.010 GeneticVariation BEFREE Recently, polymorphisms in thrombospondin (THBS) genes coding for THBS-1 (N700S), THBS-2 (T>G substitution in 3'-untranslated region), and THBS-4 (A387P) genes were proposed to modulate the risk of premature coronary artery disease (CAD) or myocardial infarction (MI). 12482844 2002
dbSNP: rs2228262
rs2228262
Entrez Id: 7057;161835
Gene Symbol: THBS1;FSIP1
THBS1;FSIP1
CUI: C1956346
Disease:
Coronary Artery Disease
0.040 GeneticVariation BEFREE A single nucleotide polymorphism that substitutes a serine for an asparagine at residue 700 in the Ca2+-binding repeats of thrombospondin-1 is associated with familial premature coronary heart disease. 12643280 2003
dbSNP: rs2228262
rs2228262
Entrez Id: 7057;161835
Gene Symbol: THBS1;FSIP1
THBS1;FSIP1
CUI: C0010054
Disease:
Coronary Arteriosclerosis
0.020 GeneticVariation BEFREE A single nucleotide polymorphism that substitutes a serine for an asparagine at residue 700 in the Ca2+-binding repeats of thrombospondin-1 is associated with familial premature coronary heart disease. 12643280 2003
dbSNP: rs2228262
rs2228262
Entrez Id: 7057;161835
Gene Symbol: THBS1;FSIP1
THBS1;FSIP1
CUI: C0010068
Disease:
Coronary heart disease
0.020 GeneticVariation BEFREE A single nucleotide polymorphism that substitutes a serine for an asparagine at residue 700 in the Ca2+-binding repeats of thrombospondin-1 is associated with familial premature coronary heart disease. 12643280 2003
dbSNP: rs2228262
rs2228262
Entrez Id: 7057;161835
Gene Symbol: THBS1;FSIP1
THBS1;FSIP1
CUI: C1611743
Disease:
Familial (FPAH)
0.010 GeneticVariation BEFREE A single nucleotide polymorphism that substitutes a serine for an asparagine at residue 700 in the Ca2+-binding repeats of thrombospondin-1 is associated with familial premature coronary heart disease. 12643280 2003
dbSNP: rs753269867
rs753269867
Entrez Id: 7057
Gene Symbol: THBS1
THBS1
CUI: C0026769
Disease:
Multiple Sclerosis
0.010 GeneticVariation BEFREE Recently, heterozygous state of CD45 exon 4 mutation (C77C wild type and C77G mutant) was reported to be associated with development of multiple sclerosis in German patients and increased susceptibility to HIV-1 infection in the United Kingdom. 14641523 2003
dbSNP: rs753269867
rs753269867
Entrez Id: 7057
Gene Symbol: THBS1
THBS1
CUI: C2363741
Disease:
HIV-1 infection
0.010 GeneticVariation BEFREE Recently, heterozygous state of CD45 exon 4 mutation (C77C wild type and C77G mutant) was reported to be associated with development of multiple sclerosis in German patients and increased susceptibility to HIV-1 infection in the United Kingdom. 14641523 2003
dbSNP: rs2228262
rs2228262
Entrez Id: 7057;161835
Gene Symbol: THBS1;FSIP1
THBS1;FSIP1
CUI: C0027051
Disease:
Myocardial Infarction
0.040 GeneticVariation BEFREE Our study suggested that the TSP-1 N700S polymorphism was rare and unrelated to MI in the Chinese Han population. 15140581 2004
dbSNP: rs2228262
rs2228262
Entrez Id: 7057;161835
Gene Symbol: THBS1;FSIP1
THBS1;FSIP1
CUI: C0027051
Disease:
Myocardial Infarction
0.040 GeneticVariation BEFREE In a large case-control study of 1425 individuals who survived a myocardial infarction prior to age 45, the N700S polymorphism was a significant risk factor for myocardial infarction in both homozygous (odds ratio [OR] 1.9, 95% confidence interval [CI] 1.1-3.3, P = .01) and heterozygous carriers of the S700 allele (OR 1.4, 95% CI 1.1-3.3, P = .01). 16684956 2006
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
dbSNP: rs2228262
rs2228262
Entrez Id: 7057;161835
Gene Symbol: THBS1;FSIP1
THBS1;FSIP1
CUI: C0600139
Disease:
Prostate carcinoma
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
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: C0027051
Disease:
Myocardial Infarction
0.040 GeneticVariation BEFREE Our data suggests that the presence of thrombospondin-1 (rs2228262) and thrombospondin-2 (rs8089) variants need not be considered a risk for coronary artery disease or myocardial infarction among South Indians. 21762961 2011
dbSNP: rs2228262
rs2228262
Entrez Id: 7057;161835
Gene Symbol: THBS1;FSIP1
THBS1;FSIP1
CUI: C1956346
Disease:
Coronary Artery Disease
0.040 GeneticVariation BEFREE Our data suggests that the presence of thrombospondin-1 (rs2228262) and thrombospondin-2 (rs8089) variants need not be considered a risk for coronary artery disease or myocardial infarction among South Indians. 21762961 2011
dbSNP: rs2228262
rs2228262
Entrez Id: 7057;161835
Gene Symbol: THBS1;FSIP1
THBS1;FSIP1
CUI: C0010054
Disease:
Coronary Arteriosclerosis
0.020 GeneticVariation BEFREE Our data suggests that the presence of thrombospondin-1 (rs2228262) and thrombospondin-2 (rs8089) variants need not be considered a risk for coronary artery disease or myocardial infarction among South Indians. 21762961 2011
dbSNP: rs2228262
rs2228262
Entrez Id: 7057;161835
Gene Symbol: THBS1;FSIP1
THBS1;FSIP1
CUI: C0010068
Disease:
Coronary heart disease
0.020 GeneticVariation BEFREE Our data suggests that the presence of thrombospondin-1 (rs2228262) and thrombospondin-2 (rs8089) variants need not be considered a risk for coronary artery disease or myocardial infarction among South Indians. 21762961 2011
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