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: 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: rs121912704
rs121912704
Entrez Id: 1636
Gene Symbol: ACE
ACE
CUI: C0266313
Disease:
Allanson Pantzar McLeod syndrome
G 0.700 CausalMutation CLINVAR
dbSNP: rs387906576
rs387906576
Entrez Id: 1636
Gene Symbol: ACE
ACE
CUI: C0266313
Disease:
Allanson Pantzar McLeod syndrome
C 0.700 CausalMutation CLINVAR
dbSNP: rs397514688
rs397514688
Entrez Id: 1636
Gene Symbol: ACE
ACE
CUI: C0266313
Disease:
Allanson Pantzar McLeod syndrome
T 0.700 CausalMutation CLINVAR
dbSNP: rs397514689
rs397514689
Entrez Id: 1636
Gene Symbol: ACE
ACE
CUI: C0266313
Disease:
Allanson Pantzar McLeod syndrome
T 0.700 CausalMutation CLINVAR
dbSNP: rs778390161
rs778390161
Entrez Id: 1636
Gene Symbol: ACE
ACE
CUI: C0266313
Disease:
Allanson Pantzar McLeod syndrome
A 0.700 GeneticVariation CLINVAR
dbSNP: rs779188587
rs779188587
Entrez Id: 1636
Gene Symbol: ACE
ACE
CUI: C0266313
Disease:
Allanson Pantzar McLeod syndrome
C 0.700 GeneticVariation CLINVAR
dbSNP: rs1267969615
rs1267969615
Entrez Id: 1636
Gene Symbol: ACE
ACE
CUI: C0410158
Disease:
Muscle damage
0.010 GeneticVariation BEFREE Muscle damage was also determined fifteen days after race and angiotensinogen (<i>AGT</i>) Met235Thr, angiotensin-converting enzyme (<i>ACE</i>) I/D, and Bradykinin B2 receptor (<i>BDKRB2</i>) -9/+9 polymorphisms were determined. 31708962 2019
dbSNP: rs1267969615
rs1267969615
Entrez Id: 1636
Gene Symbol: ACE
ACE
CUI: C0020538
Disease:
Hypertensive disease
0.100 GeneticVariation BEFREE M235T polymorphism of AGT has been studied extensively in many populations including Japanese, and the results suggest a weak, but significant linkage with hypertension. 11128865 2000
dbSNP: rs1267969615
rs1267969615
Entrez Id: 1636
Gene Symbol: ACE
ACE
CUI: C0010068
Disease:
Coronary heart disease
0.080 GeneticVariation BEFREE M235T and T174M variants do not contribute to the increased risk of CHD or hypertension in the Indian population. 12938141 2003
dbSNP: rs1267969615
rs1267969615
Entrez Id: 1636
Gene Symbol: ACE
ACE
CUI: C0020538
Disease:
Hypertensive disease
0.100 GeneticVariation BEFREE M235T and T174M variants do not contribute to the increased risk of CHD or hypertension in the Indian population. 12938141 2003
dbSNP: rs1267969615
rs1267969615
Entrez Id: 1636
Gene Symbol: ACE
ACE
CUI: C0020538
Disease:
Hypertensive disease
0.100 GeneticVariation BEFREE M235T polymorphism of the angiotensinogen gene and insertion/deletion polymorphism of the angiotensin-1 converting enzyme gene in essential arterial hypertension in Caucasians. 17448297 2007
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: rs1290778035
rs1290778035
Entrez Id: 1636
Gene Symbol: ACE
ACE
CUI: C0020541
Disease:
Portal Hypertension
0.010 GeneticVariation BEFREE A 57-year-old white woman had serum ferritin 793 ng/mL, HFE C282Y homozygosity, elevated serum angiotensin-converting enzyme (ACE) levels, 3+ hepatocyte iron, cirrhosis, hepatic granulomas, and portal hypertension. 19440063 2009
dbSNP: rs1267969615
rs1267969615
Entrez Id: 1636
Gene Symbol: ACE
ACE
CUI: C0020538
Disease:
Hypertensive disease
0.100 GeneticVariation BEFREE A case-control association study was conducted to investigate a possible involvement of polymorphisms of three renin-angiotensin system genes: ACE (I/D and T-3892C), AGT (M235T and T174M), and AT1R (A1166C) in the early development of hypertension. 16876684 2006
dbSNP: rs4351
rs4351
Entrez Id: 1636
Gene Symbol: ACE
ACE
CUI: C0523465
Disease:
Serum albumin measurement
A 0.700 GeneticVariation GWASDB A genome-wide assessment of variability in human serum metabolism. 23281178 2013
dbSNP: rs1322398043
rs1322398043
Entrez Id: 1636
Gene Symbol: ACE
ACE
CUI: C0028754
Disease:
Obesity
0.010 GeneticVariation BEFREE A high sodium intake markedly increased the obesity risk in variants of GRK4 A486V regardless of sex. 25768006 2015
dbSNP: rs4305
rs4305
Entrez Id: 1636
Gene Symbol: ACE
ACE
CUI: C0020538
Disease:
Hypertensive disease
0.020 GeneticVariation BEFREE A polymorphism in ACE (rs4305) showed modest replication of association with increased hypertension (β: 0.06 mm Hg; SE: 0.01 mm Hg; meta-analysis: P=3.0×10(-5)). 21444836 2011
dbSNP: rs1267969615
rs1267969615
Entrez Id: 1636
Gene Symbol: ACE
ACE
CUI: C0029899
Disease:
Otosclerosis
0.010 GeneticVariation BEFREE A significant association was found between otosclerosis and the AGT M235T and the ACE I/D polymorphisms. 18491423 2008
dbSNP: rs1267969615
rs1267969615
Entrez Id: 1636
Gene Symbol: ACE
ACE
CUI: C0038454
Disease:
Cerebrovascular accident
0.030 GeneticVariation BEFREE A significant drug-gene interaction was not found on the risk of stroke (SI: 1.83; 95% CI: 0.95-3.54) in ACE-inhibitor users or between current use of beta-blockers and the AGT M235T polymorphism on the risk of MI or stroke. 17299437 2007
dbSNP: rs1267969615
rs1267969615
Entrez Id: 1636
Gene Symbol: ACE
ACE
CUI: C0027051
Disease:
Myocardial Infarction
0.100 GeneticVariation BEFREE A significant drug-gene interaction was not found on the risk of stroke (SI: 1.83; 95% CI: 0.95-3.54) in ACE-inhibitor users or between current use of beta-blockers and the AGT M235T polymorphism on the risk of MI or stroke. 17299437 2007
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: 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: rs4343
rs4343
Entrez Id: 1636
Gene Symbol: ACE
ACE
CUI: C4509226
Disease:
Heart failure with preserved ejection fraction [HFpEF]
0.010 GeneticVariation BEFREE A total of 176 hypertensive patients with a diagnosis of HFpEF were divided to cases with LVH and controls without. rs4343 and rs4291 of angiotensin-converting enzyme (ACE) and rs5186 of angiotensin receptor type 1 were genotyped using PCR-RFLP method. 28513230 2017
dbSNP: rs1267969615
rs1267969615
Entrez Id: 1636
Gene Symbol: ACE
ACE
CUI: C0026769
Disease:
Multiple Sclerosis
0.010 GeneticVariation BEFREE A total of 195 patients with multiple sclerosis (MS) and 126 controls were investigated for angiotensinogen/(-6)A/G, M235T/and angiotensin converting enzyme I/D gene polymorphisms to test their association with MS susceptibility and/or disease progression using Global Multiple Sclerosis Severity Score (MSSS). 21320707 2011