ACE, angiotensin I converting enzyme, 1636

N. diseases: 1082; N. variants: 82
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1042309696
rs1042309696
Entrez Id: 1636
Gene Symbol: ACE
ACE
CUI: C0020538
Disease:
Hypertensive disease
0.010 GeneticVariation BEFREE Pharmacogenetic association of the NPPA T2238C genetic variant with cardiovascular disease outcomes in patients with hypertension. 18212314 2008
dbSNP: rs1042309696
rs1042309696
Entrez Id: 1636
Gene Symbol: ACE
ACE
CUI: C0007222
Disease:
Cardiovascular Diseases
0.010 GeneticVariation BEFREE The NPPA T2238C variant was associated with modification of antihypertensive medication effects on cardiovascular disease and BP. 18212314 2008
dbSNP: rs1156835126
rs1156835126
Entrez Id: 1636
Gene Symbol: ACE
ACE
CUI: C0020538
Disease:
Hypertensive disease
0.010 GeneticVariation BEFREE We investigated a possible association between hypertension and haptoglobin, angiotensin I-converting enzyme (ACE), glutathione S-transferases GSTM1 and GSTT1, MnSOD (Val9Ala), CAT (-21A/T), and GPX1 (Pro198Leu) gene polymorphisms in an urban Brazilian population group from Brasília. 21053180 2010
dbSNP: rs1157043147
rs1157043147
Entrez Id: 1636
Gene Symbol: ACE
ACE
CUI: C0011881
Disease:
Diabetic Nephropathy
0.010 GeneticVariation BEFREE Our results suggest that TGF-beta T869C (Leu 10Pro) gene polymorphism is associated with DMN in Chinese. 12675860 2003
dbSNP: rs1181835738
rs1181835738
Entrez Id: 1636
Gene Symbol: ACE
ACE
CUI: C1861172
Disease:
Venous Thromboembolism
0.010 GeneticVariation BEFREE Statistically significant associations with VTE were identified for factor V G1691A (OR 9.45; 95% CI 6.72-13.30, p < 0.0001), factor V A4070G (OR 1.24; 95% CI 1.02-1.52, p = 0.03), prothrombin G20210A, (OR 3.17; 95% CI 2.19-3.46, p < 0.00001), prothrombin G11991A, (OR 1.17; 95% CI 1.07-1.27, p = 0.0007), PAI-1 4G/5G, (OR 1.62; 95% CI 1.22-2.16, p = 0.0008), alpha-fibrinogen Thr312Ala (OR 1.37; 95% CI 1.14-1.64, p = 0.0008), all in Caucasian populations. 19652888 2009
dbSNP: rs1205538057
rs1205538057
Entrez Id: 1636
Gene Symbol: ACE
ACE
CUI: C4728082
Disease:
Severe hypoglycaemia
0.020 GeneticVariation BEFREE We have previously reported an association of the deletion (D-) allele of the angiotensin-converting enzyme (ACE) insertion/deletion (I/D) polymorphism and the A-allele of the angiotensin II receptor subtype 2 (AT2R) 1675 G>A polymorphism with risk of severe hypoglycaemia in such patients. 19820429 2009
dbSNP: rs1205538057
rs1205538057
Entrez Id: 1636
Gene Symbol: ACE
ACE
CUI: C4728082
Disease:
Severe hypoglycaemia
0.020 GeneticVariation BEFREE High renin-angiotensin system activity and the A-allele of the AT2R 1675G/A polymorphism associate with high risk of severe hypoglycemia in type 1 diabetes. 18328310 2008
dbSNP: rs1205538057
rs1205538057
Entrez Id: 1636
Gene Symbol: ACE
ACE
CUI: C0024141
Disease:
Lupus Erythematosus, Systemic
0.010 GeneticVariation BEFREE G-containing genotypes (AG + GG) and G allele of AT2R in intron 1 (A1675G) were more frequent in SLE patients compared to controls ( p = 0.01, OR = 2.3, 95% CI = 1.2-4.5; p = 0.02, OR = 2.1, 95% CI = 1.2-3.7, respectively). 30621494 2019
dbSNP: rs1205538057
rs1205538057
Entrez Id: 1636
Gene Symbol: ACE
ACE
CUI: C1956346
Disease:
Coronary Artery Disease
0.010 GeneticVariation BEFREE A slight impact of AT2R 1675G/A polymorphism on CAD was found only in female diabetic patients. 22345093 2012
dbSNP: rs1205538057
rs1205538057
Entrez Id: 1636
Gene Symbol: ACE
ACE
CUI: C0011854
Disease:
Diabetes Mellitus, Insulin-Dependent
0.010 GeneticVariation BEFREE High renin-angiotensin system activity and the A-allele of the AT2R 1675G/A polymorphism associate with high risk of severe hypoglycemia in type 1 diabetes. 18328310 2008
dbSNP: rs1205538057
rs1205538057
Entrez Id: 1636
Gene Symbol: ACE
ACE
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent
0.010 GeneticVariation BEFREE 1675G/A variant in the AT2R gene was found to be associated with CAD in female subjects with type 2 diabetes (p = 0.025). 22345093 2012
dbSNP: rs121912703
rs121912703
Entrez Id: 1636
Gene Symbol: ACE
ACE
CUI: C1862874
Disease:
ANGIOTENSIN I-CONVERTING ENZYME, BENIGN SERUM INCREASE
T 0.700 CausalMutation CLINVAR
dbSNP: rs121912703
rs121912703
Entrez Id: 1636
Gene Symbol: ACE
ACE
CUI: C0424295
Disease:
Hyperactive behavior
0.010 GeneticVariation BEFREE Here, we describe a first family outside Europe with asymptomatic autosomal-dominant hyper-ACE-emia due to the ACE Pro1199Leu mutation. 16958600 2006
dbSNP: rs121912704
rs121912704
Entrez Id: 1636
Gene Symbol: ACE
ACE
CUI: C0266313
Disease:
Allanson Pantzar McLeod syndrome
G 0.700 CausalMutation CLINVAR
dbSNP: rs1221928144
rs1221928144
Entrez Id: 1636
Gene Symbol: ACE
ACE
CUI: C0085580
Disease:
Essential Hypertension
0.010 GeneticVariation BEFREE This is the first report showing that the S89N single-nucleotide polymorphism of the UTS2 gene is associated with essential hypertension. 16866021 2007
dbSNP: rs1241356540
rs1241356540
Entrez Id: 1636
Gene Symbol: ACE
ACE
CUI: C0011884
Disease:
Diabetic Retinopathy
0.010 GeneticVariation BEFREE In conclusion, our results suggest that V16A polymorphism of the Mn-SOD gene is not related to the development of diabetes and progression of DR, but is associated with DME in Korean type 2 diabetic patients. 17142144 2006
dbSNP: rs1241356540
rs1241356540
Entrez Id: 1636
Gene Symbol: ACE
ACE
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent
0.010 GeneticVariation BEFREE This study was designed to investigate whether V16A polymorphism of the manganese superoxide dismutase (Mn-SOD) gene is associated with the development of type 2 diabetes mellitus and with progression of diabetic retinopathy (DR) and diabetic macular edema (DME). 17142144 2006
dbSNP: rs1241356540
rs1241356540
Entrez Id: 1636
Gene Symbol: ACE
ACE
CUI: C0011847
Disease:
Diabetes
0.010 GeneticVariation BEFREE In conclusion, our results suggest that V16A polymorphism of the Mn-SOD gene is not related to the development of diabetes and progression of DR, but is associated with DME in Korean type 2 diabetic patients. 17142144 2006
dbSNP: rs1241356540
rs1241356540
Entrez Id: 1636
Gene Symbol: ACE
ACE
CUI: C0011849
Disease:
Diabetes Mellitus
0.010 GeneticVariation BEFREE In conclusion, our results suggest that V16A polymorphism of the Mn-SOD gene is not related to the development of diabetes and progression of DR, but is associated with DME in Korean type 2 diabetic patients. 17142144 2006
dbSNP: rs1241356540
rs1241356540
Entrez Id: 1636
Gene Symbol: ACE
ACE
CUI: C0730285
Disease:
Diabetic macular edema
0.010 GeneticVariation BEFREE In conclusion, our results suggest that V16A polymorphism of the Mn-SOD gene is not related to the development of diabetes and progression of DR, but is associated with DME in Korean type 2 diabetic patients. 17142144 2006
dbSNP: rs1267969615
rs1267969615
Entrez Id: 1636
Gene Symbol: ACE
ACE
CUI: C0027051
Disease:
Myocardial Infarction
0.100 GeneticVariation BEFREE To determine whether the DNA polymorphisms in A:POE (epsilon2, epsilon3, and epsilon4 alleles), A:GT (M235T), A:T1R (1166 A:/C:), and ACE (I:/D:) are associated with early onset of myocardial infarction (MI), we genotyped 220 patients and 200 controls <55 years of age. 11106322 2000
dbSNP: rs1267969615
rs1267969615
Entrez Id: 1636
Gene Symbol: ACE
ACE
CUI: C0020538
Disease:
Hypertensive disease
0.100 GeneticVariation BEFREE Furthermore, an M235T variant of the angiotensinogen (AGT) gene has been associated with hypertension, an important risk factor for the development and progression of diabetic nephropathy. 18413162 2008
dbSNP: rs1267969615
rs1267969615
Entrez Id: 1636
Gene Symbol: ACE
ACE
CUI: C0027051
Disease:
Myocardial Infarction
0.100 GeneticVariation BEFREE Both alleles of the M235T polymorphism of the angiotensinogen gene can be a risk factor for myocardial infarction. 11531970 2001
dbSNP: rs1267969615
rs1267969615
Entrez Id: 1636
Gene Symbol: ACE
ACE
CUI: C0011881
Disease:
Diabetic Nephropathy
0.100 GeneticVariation BEFREE A substitution (M235T) polymorphism in angiotensinogen (AGT) may interact with ACE I/D polymorphism for the risk of diabetic nephropathy, but their prognostic values have to be established by follow-up studies. 11181802 2001
dbSNP: rs1267969615
rs1267969615
Entrez Id: 1636
Gene Symbol: ACE
ACE
CUI: C0020538
Disease:
Hypertensive disease
0.100 GeneticVariation BEFREE In studies conducted in several different populations, the M235T substitution in the angiotensinogen (AGT) locus has been associated with hypertension. 9034402 1997