rs7080536, HABP2;NRAP

N. diseases: 27
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
THYROID CANCER, NONMEDULLARY, 5
CUI: C4225292
Disease: THYROID CANCER, NONMEDULLARY, 5
0.700 GeneticVariation UNIPROT
Venous Thromboembolism
CUI: C1861172
Disease: Venous Thromboembolism
0.010 GeneticVariation BEFREE Whether a single nucleotide polymorphism (1601 G > A) in the factor VII-activating protease gene (FSAP Marburg I) is a risk factor for venous thromboembolism (VTE) is unclear. 16543963 2006
Cardiovascular Diseases
CUI: C0007222
Disease: Cardiovascular Diseases
0.010 GeneticVariation BEFREE The G534E polymorphism (Marburg I [MI]) of factor VII-activating protease (FSAP) is associated with carotid stenosis and cardiovascular disease. 17145954 2006
Carotid Stenosis
CUI: C0007282
Disease: Carotid Stenosis
0.010 GeneticVariation BEFREE The G534E polymorphism (Marburg I [MI]) of factor VII-activating protease (FSAP) is associated with carotid stenosis and cardiovascular disease. 17145954 2006
Atherothrombosis
CUI: C1963943
Disease: Atherothrombosis
0.010 GeneticVariation BEFREE In clinical studies, the G534E single nucleotide polymorphism (Marburg I) of FSAP has been linked to late complications of atherothrombosis and is associated with a low proteolytic activity, particularly, towards pro-uPA. 18278176 2008
Deep Vein Thrombosis
CUI: C0149871
Disease: Deep Vein Thrombosis
0.010 GeneticVariation BEFREE We studied the association between the 1601G/A polymorphism, FSAP activity, FSAP antigen, Factor VIIa (FVIIa), prothrombin fragment 1+2 (F1+2), and C-reactive protein (CRP) in plasmas of 170 patients suspected for DVT. 18394684 2008
Fibrosis, Liver
CUI: C0239946
Disease: Fibrosis, Liver
0.030 GeneticVariation BEFREE The G534E variant of FSAP is a risk locus for HCV-induced liver fibrosis and cirrhosis by determining PDGF-BB-mediated hepatic stellate cell proliferation through a single amino acid substitution in FSAP. 19105210 2009
Liver Cirrhosis
CUI: C0023890
Disease: Liver Cirrhosis
0.010 GeneticVariation BEFREE The G534E variant of FSAP is a risk locus for HCV-induced liver fibrosis and cirrhosis by determining PDGF-BB-mediated hepatic stellate cell proliferation through a single amino acid substitution in FSAP. 19105210 2009
Cirrhosis
CUI: C1623038
Disease: Cirrhosis
0.010 GeneticVariation BEFREE The G534E variant of FSAP is a risk locus for HCV-induced liver fibrosis and cirrhosis by determining PDGF-BB-mediated hepatic stellate cell proliferation through a single amino acid substitution in FSAP. 19105210 2009
Diabetes
CUI: C0011847
Disease: Diabetes
0.010 GeneticVariation BEFREE Here, we demonstrate that a coding polymorphism (G534E) in the gene for FSAP is significantly associated with severe HCV-induced liver fibrosis (odds ratio, 2.59; P = 0.017), which is independent of age, gender, and presence of diabetes in multivariate analysis. 19105210 2009
Hepatitis C
CUI: C0019196
Disease: Hepatitis C
0.010 GeneticVariation BEFREE FSAP G534</span>E might be useful for risk stratification in patients with HCV infection. 19105210 2009
Diabetes Mellitus
CUI: C0011849
Disease: Diabetes Mellitus
0.010 GeneticVariation BEFREE Here, we demonstrate that a coding polymorphism (G534E) in the gene for FSAP is significantly associated with severe HCV-induced liver fibrosis (odds ratio, 2.59; P = 0.017), which is independent of age, gender, and presence of diabetes in multivariate analysis. 19105210 2009
Fibrosis, Liver
CUI: C0239946
Disease: Fibrosis, Liver
0.030 GeneticVariation BEFREE A single nucleotide polymorphism (G534E, Marburg I, MI-SNP) in the gene encoding FSAP (HABP2) leads to lower enzymatic activity and is associated with enhanced liver fibrosis in humans. 22989567 2013
Papillary thyroid carcinoma
CUI: C0238463
Disease: Papillary thyroid carcinoma
0.040 GeneticVariation BEFREE The HABP2 G534E variant (rs7080536) was genotyped in blood DNA from 179 PTC families (one affected individual per family), 1160 sporadic PTC cases and 1395 controls. 26745718 2016
Thyroid Neoplasm
CUI: C0040136
Disease: Thyroid Neoplasm
0.040 GeneticVariation BEFREE These results are consistent with HABP2 G534E being a susceptibility gene in a subgroup of FNMTC, providing important diagnostic implications for this hereditary thyroid cancer. 26832773 2016
Familial Nonmedullary Thyroid Gland Carcinoma
0.040 GeneticVariation BEFREE These results are consistent with HABP2 G534E being a susceptibility gene in a subgroup of FNMTC, providing important diagnostic implications for this hereditary thyroid cancer. 26832773 2016
Malignant neoplasm of thyroid
CUI: C0007115
Disease: Malignant neoplasm of thyroid
0.040 GeneticVariation BEFREE These results are consistent with HABP2 G534E being a susceptibility gene in a subgroup of FNMTC, providing important diagnostic implications for this hereditary thyroid cancer. 26832773 2016
Papillary thyroid carcinoma
CUI: C0238463
Disease: Papillary thyroid carcinoma
0.040 GeneticVariation BEFREE The overall prevalence of HABP2 G534E was six per 43 (14.0%) PTC patients from the 29 kindreds and four per 29 (13.8%) kindreds. 26832773 2016
Thyroid carcinoma
CUI: C0549473
Disease: Thyroid carcinoma
0.040 GeneticVariation BEFREE These results are consistent with HABP2 G534E being a susceptibility gene in a subgroup of FNMTC, providing important diagnostic implications for this hereditary thyroid cancer. 26832773 2016
Familial Nonmedullary Thyroid Cancer
0.020 GeneticVariation BEFREE HABP2 G534E Mutation in Familial Nonmedullary Thyroid Cancer. 26832773 2016
Malignant neoplasm of thyroid
CUI: C0007115
Disease: Malignant neoplasm of thyroid
0.040 GeneticVariation BEFREE The G534E variant has also been reported to occur in about 4.7% of cases of the Thyroid Cancer Genome Atlas (TCGA) database. 26906432 2016
Thyroid carcinoma
CUI: C0549473
Disease: Thyroid carcinoma
0.040 GeneticVariation BEFREE The G534E variant has also been reported to occur in about 4.7% of cases of the Thyroid Cancer Genome Atlas (TCGA) database. 26906432 2016
Thyroid Neoplasm
CUI: C0040136
Disease: Thyroid Neoplasm
0.040 GeneticVariation BEFREE The G534E variant has also been reported to occur in about 4.7% of cases of the Thyroid Cancer Genome Atlas (TCGA) database. 26906432 2016
Thyroid Diseases
CUI: C0040128
Disease: Thyroid Diseases
0.010 GeneticVariation BEFREE As a control cohort, 190 healthy individuals without known thyroid disease were also studied for the presence of the G534E variant using DNA isolated from peripheral leucocytes. 26906432 2016
Fibrosis, Liver
CUI: C0239946
Disease: Fibrosis, Liver
0.030 GeneticVariation BEFREE A single nucleotide polymorphism (G534E) in HABP2 leads to lower enzymatic activity and is associated with enhanced liver fibrosis in humans. 27462075 2016