THBS4, thrombospondin 4, 7060

N. diseases: 59; N. variants: 4
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0040420
Disease: Tonometry
Tonometry
0.100 GeneticVariation phenotype GWASCAT Genome-wide association analyses identify new loci influencing intraocular pressure. 29617998 2018
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction
0.060 GeneticVariation disease BEFREE Our findings suggest that the A387P variant of the THBS4 gene may be an important determinant in the development of MI at any age. 15131549 2004
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction
0.060 GeneticVariation disease LHGDN Based on a study examining 500 myocardial infarction (MI) patients and 500 controls from the genetically isolated Newfoundland population, we previously reported that thrombospondin-4 (THBS-4) 1186G>C variant associates with MI in women. 16923428 2006
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction
0.060 GeneticVariation disease BEFREE Homozygosity for the THBS-2 variant allele and the THBS-4 variant (387P) allele was significantly associated with a reduced risk of premature MI compared with wild-type individuals (OR=0.44, 0.24 to 0.84 and OR=0.43, 0.22 to 0.85, respectively). 12482844 2002
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction
0.060 GeneticVariation disease BEFREE Thrombospondin-4 A387P polymorphism is not associated with coronary artery disease and myocardial infarction in the Chinese Han population. 14674882 2004
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction
0.060 GeneticVariation disease BEFREE Based on a study examining 500 myocardial infarction (MI) patients and 500 controls from the genetically isolated Newfoundland population, we previously reported that thrombospondin-4 (THBS-4) 1186G>C variant associates with MI in women. 16923428 2006
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction
0.060 GeneticVariation disease BEFREE None of studied single genetic variants-F13A1 Val34Leu, THBS2 T/G 3'UTR and THBS4 Ala387Pro-and the extended CC/TT/GG haplotype of F13A1/THBS2/THBS4 genes was associated with MI in young age. 30972713 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.060 GeneticVariation group BEFREE Hypermethylation of the putative tumor suppressor genes BCL7a (in 48% of CTCL samples), PTPRG (27%), and thrombospondin 4 (52%) was confirmed and demonstrated to be associated with transcriptional downregulation. 15897551 2005
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach
0.040 GeneticVariation disease BEFREE The aim of this study was to explore the association of THBS2/THBS4 polymorphisms with risk and clinicopathological features of GC in a Southeast Chinese population. 27160021 2016
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma
0.040 GeneticVariation disease BEFREE The aim of this study was to explore the association of THBS2/THBS4 polymorphisms with risk and clinicopathological features of GC in a Southeast Chinese population. 27160021 2016
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
0.030 GeneticVariation disease BEFREE The THBS2 3' untranslated region (UTR) polymorphism and THBS4 A387P polymorphism were not associated with overall CAD risk. 25976449 2015
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
0.030 GeneticVariation disease BEFREE Thrombospondin-4 A387P polymorphism is not associated with coronary artery disease and myocardial infarction in the Chinese Han population. 14674882 2004
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
0.030 GeneticVariation disease BEFREE For the THBS-4 A387P polymorphism, additional studies are required to elucidate its role in premature CAD. 12482844 2002
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis
0.020 GeneticVariation disease BEFREE In a recent large-scale genetic association study, a single nucleotide polymorphism in the thrombospondin-4 (TSP-4) gene, resulting in a proline-for-alanine substitution at position 387, was associated with a significantly increased risk for premature atherosclerosis. 12952849 2003
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis
0.020 GeneticVariation disease BEFREE In a recent large-scale genetic association study, a single nucleotide polymorphism in the thrombospondin-4 (TSP-4) gene, resulting in a proline-for-alanine substitution at position 387, was associated with a significantly increased risk for premature atherosclerosis. 12952849 2003
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.010 GeneticVariation group BEFREE Thrombospondin-4 (TSP-4), a matricellular protein of vessel walls associated with inflammation, was investigated in terms of CVD risk using multivariable modelling with a well-characterised functional genetic polymorphism of THBS4 (rs1866389" genes_norm="7060">A387P, rs1866389) along with previously demonstrated risk-related functional genetic polymorphisms of CYBA (C242T, rs4673) and CETP (TaqIB, rs708272), and a set of blood markers. 22011848 2011
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis
0.010 GeneticVariation disease BEFREE Thrombospondin-4 A387P polymorphism is not associated with coronary artery disease and myocardial infarction in the Chinese Han population. 14674882 2004
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease
0.010 GeneticVariation disease BEFREE Thrombospondin-4 A387P polymorphism is not associated with coronary artery disease and myocardial infarction in the Chinese Han population. 14674882 2004
CUI: C0857175
Disease: Postinfarction
Postinfarction
0.010 GeneticVariation disease BEFREE Thrombospondin-4 polymorphism (A387P) predicts cardiovascular risk in postinfarction patients with high HDL cholesterol and C-reactive protein levels. 22011848 2011
Premature coronary artery atherosclerosis
0.010 GeneticVariation phenotype 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
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.060 Biomarker group BEFREE Upregulation of pro-angiogenic TSP-4 and selective effects of TSP-4 on EC may contribute to stimulation of tumor growth by TGF-β despite the inhibition of cancer cell proliferation. 28481870 2017
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.060 Biomarker group BEFREE THBS4 may act as a tumour suppressor gene, demonstrated by its suppression of tumour colony formation in vitro. 20846368 2010
CUI: C0027796
Disease: Neuralgia
Neuralgia
0.050 Biomarker phenotype BEFREE Up-regulation of thrombospondin-4 (TSP4) or voltage-gated calcium channel subunit α<sub>2</sub>δ<sub>1</sub> (Ca<sub>v</sub>α<sub>2</sub>δ<sub>1</sub>) proteins in the spinal cord contributes to neuropathic pain development through an unidentified mechanism. 30194282 2018
CUI: C0027796
Disease: Neuralgia
Neuralgia
0.050 Biomarker phenotype BEFREE Controlling TSP4 mediated intracellular Ca<sup>2+</sup> signaling in peripheral sensory neurons may be a target for analgesic drug development for neuropathic pain. 28232180 2017
CUI: C0027796
Disease: Neuralgia
Neuralgia
0.050 Biomarker phenotype BEFREE These results provide biochemical evidence that supports a specific role of TSP-4 among the TSPs in mediating the binding to neuronal α<sub>2</sub>δ-1 and suggest that gabapentin does not directly target TSP/α<sub>2</sub>δ-1 interaction to alleviate neuropathic pain. 31700036 2019