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: rs1267969615
rs1267969615
Entrez Id: 1636
Gene Symbol: ACE
ACE
CUI: C1860224
Disease:
ABLEPHARON-MACROSTOMIA SYNDROME
0.010 GeneticVariation BEFREE ACE (I/D) was significantly associated with HR in CMS patients while the AGT M235T was significantly associated with SaO(2) and BPs/d in AMS patients. 20570668 2010
dbSNP: rs1267969615
rs1267969615
Entrez Id: 1636
Gene Symbol: ACE
ACE
CUI: C0001206
Disease:
Acromegaly
0.020 GeneticVariation BEFREE The aim of the study was to investigate the association between ACE (I/D) and AGT (M235T) gene polymorphisms and cardiovascular and metabolic disorders in the acromegaly. 28712073 2017
dbSNP: rs1267969615
rs1267969615
Entrez Id: 1636
Gene Symbol: ACE
ACE
CUI: C0001206
Disease:
Acromegaly
0.020 GeneticVariation BEFREE Angiotensin converting enzyme I/D, angiotensinogen M235T and AT1-R A/C1166 gene polymorphisms in patients with acromegaly. 20361261 2011
dbSNP: rs1267969615
rs1267969615
Entrez Id: 1636
Gene Symbol: ACE
ACE
CUI: C0742343
Disease:
Acute Chest Syndrome
0.010 GeneticVariation BEFREE The oligenic combination of ACE-DD and M235T-TT genotypes was higher in ACS compared to controls. 16274774 2005
dbSNP: rs4343
rs4343
Entrez Id: 1636
Gene Symbol: ACE
ACE
CUI: C0742343
Disease:
Acute Chest Syndrome
0.010 GeneticVariation BEFREE This study aims to investigate the impact of ACE (rs4343) and AT1R (rs 5182) genetic polymorphisms on the outcome of acute coronary syndrome (ACS) in patients on captopril. 31195108 2020
dbSNP: rs1267969615
rs1267969615
Entrez Id: 1636
Gene Symbol: ACE
ACE
CUI: C0948089
Disease:
Acute Coronary Syndrome
0.010 GeneticVariation BEFREE In this case-control study, we determine the frequency of mutant alleles in the ACE I/D, M235T and A1166C polymorphisms in postmenopausal Caucasian women with and without a diagnosis of acute coronary syndrome (ACS). 16274774 2005
dbSNP: rs4343
rs4343
Entrez Id: 1636
Gene Symbol: ACE
ACE
CUI: C0948089
Disease:
Acute Coronary Syndrome
0.010 GeneticVariation BEFREE This study aims to investigate the impact of ACE (rs4343) and AT1R (rs 5182) genetic polymorphisms on the outcome of acute coronary syndrome (ACS) in patients on captopril. 31195108 2020
dbSNP: rs1267969615
rs1267969615
Entrez Id: 1636
Gene Symbol: ACE
ACE
CUI: C0155626
Disease:
Acute myocardial infarction
0.010 GeneticVariation BEFREE There was a significant difference in the insertion deletion genotype distribution between two groups (P = 0.03) and a higher percentage of the T allele M235T polymorphism in the group of STEAMI patients (P = 0.02). 29474203 2018
dbSNP: rs1267969615
rs1267969615
Entrez Id: 1636
Gene Symbol: ACE
ACE
CUI: C1719495
Disease:
Aggressive periodontitis, generalized
0.010 GeneticVariation BEFREE Present findings suggest that AGT M235T TT genotype and T allele might be associated with decreased risk for G-AgP in Turkish population. 19162259 2009
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: rs797045079
rs797045079
Entrez Id: 1636
Gene Symbol: ACE
ACE
CUI: C0266313
Disease:
Allanson Pantzar McLeod syndrome
C 0.700 CausalMutation CLINVAR Spectrum of mutations in the renin-angiotensin system genes in autosomal recessive renal tubular dysgenesis. 22095942 2012
dbSNP: rs4291
rs4291
Entrez Id: 1636
Gene Symbol: ACE
ACE
CUI: C0494463
Disease:
Alzheimer Disease, Late Onset
0.010 GeneticVariation BEFREE Our study showed that the polymorphisms of rs5516, rs710446, rs2304456, rs4291 and rs4343 is not related to the incidence of LOAD. 26884824 2015
dbSNP: rs4309
rs4309
Entrez Id: 1636
Gene Symbol: ACE
ACE
CUI: C0494463
Disease:
Alzheimer Disease, Late Onset
0.010 GeneticVariation BEFREE The polymorphisms of rs4309 may be related to LOAD, as well as ATA, ACA, and TCA haplotype composed of rs4291/rs4309/rs4343. 26884824 2015
dbSNP: rs4343
rs4343
Entrez Id: 1636
Gene Symbol: ACE
ACE
CUI: C0494463
Disease:
Alzheimer Disease, Late Onset
0.010 GeneticVariation BEFREE Our study showed that the polymorphisms of rs5516, rs710446, rs2304456, rs4291 and rs4343 is not related to the incidence of LOAD. 26884824 2015
dbSNP: rs754618480
rs754618480
Entrez Id: 1636
Gene Symbol: ACE
ACE
CUI: C0494463
Disease:
Alzheimer Disease, Late Onset
0.010 GeneticVariation BEFREE APOE, MTHFR A1298C and BDNF C270T polymorphisms may be associated with LOAD and BDNF and MTHFR alleles may play a role in the age at onset of the LOAD. 31102717 2019
dbSNP: rs4311
rs4311
Entrez Id: 1636
Gene Symbol: ACE
ACE
CUI: C0002395
Disease:
Alzheimer's Disease
0.700 GeneticVariation GWASCAT GWAS on family history of Alzheimer's disease. 29777097 2018
dbSNP: rs1799752
rs1799752
Entrez Id: 1636
Gene Symbol: ACE
ACE
CUI: C0002395
Disease:
Alzheimer's Disease
0.030 GeneticVariation BEFREE This study is aimed to clarify the association between ACE insertion (I)/deletion (D) polymorphism (rs1799752) and AD. 25596842 2015
dbSNP: rs1799752
rs1799752
Entrez Id: 1636
Gene Symbol: ACE
ACE
CUI: C0002395
Disease:
Alzheimer's Disease
0.030 GeneticVariation BEFREE In a case-control study including 376 late-onset AD patients and 444 control subjects, we showed a statistically significant effect on the risk of AD of tw</span>o variants (rs4343 and rs1799752) and of the haplotype ATI (rs4343/rs4291/rs1799752) in subjects aged 73 years and above. 19539712 2009
dbSNP: rs1799752
rs1799752
Entrez Id: 1636
Gene Symbol: ACE
ACE
CUI: C0002395
Disease:
Alzheimer's Disease
0.030 GeneticVariation BEFREE We measured ACE-2 activity by fluorogenic peptide substrate assay in mid-frontal cortex (Brodmann area 9) in a cohort of AD (n = 90) and age-matched non-demented controls (n = 59) for which we have previous data on ACE-1 activity, amyloid β (Aβ) level and tau pathology, as well as known ACE1 (rs1799752) indel polymorphism, apolipoprotein E (APOE) genotype, and cerebral amyloid angiopathy severity scores. 27884212 2016
dbSNP: rs4343
rs4343
Entrez Id: 1636
Gene Symbol: ACE
ACE
CUI: C0002395
Disease:
Alzheimer's Disease
0.030 GeneticVariation BEFREE These results suggest that a variant in close proximity to rs4343 and rs4351 modulates susceptibility to AD in this community. 16642441 2006