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: rs149155892
rs149155892
Entrez Id: 1636
Gene Symbol: ACE
ACE
CUI: C0005890
Disease:
Body Height 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs28730839
rs28730839
Entrez Id: 1636
Gene Symbol: ACE
ACE
CUI: C0202117
Disease:
Low density lipoprotein cholesterol measurement 		0.700 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012
dbSNP: rs28730839
rs28730839
Entrez Id: 1636
Gene Symbol: ACE
ACE
CUI: C0428474
Disease:
Serum LDL cholesterol measurement 		0.700 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012
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: rs4291
rs4291
Entrez Id: 1636
Gene Symbol: ACE
ACE
CUI: C0871470
Disease:
Systolic Pressure 		T 0.700 GeneticVariation GWASCAT Trans-ethnic association study of blood pressure determinants in over 750,000 individuals. 30578418 2019
dbSNP: rs4295
rs4295
Entrez Id: 1636
Gene Symbol: ACE
ACE
CUI: C0428883
Disease:
Diastolic blood pressure 		C 0.700 GeneticVariation GWASCAT Genome-wide association analyses using electronic health records identify new loci influencing blood pressure variation. 27841878 2017
dbSNP: rs4295
rs4295
Entrez Id: 1636
Gene Symbol: ACE
ACE
CUI: C0871470
Disease:
Systolic Pressure 		C 0.700 GeneticVariation GWASCAT Genome-wide association analyses using electronic health records identify new loci influencing blood pressure variation. 27841878 2017
dbSNP: rs4308
rs4308
Entrez Id: 1636
Gene Symbol: ACE
ACE
CUI: C0428883
Disease:
Diastolic blood pressure 		A 0.700 GeneticVariation GWASCAT Genome-wide association analysis identifies novel blood pressure loci and offers biological insights into cardiovascular risk. 28135244 2017
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: rs4329
rs4329
Entrez Id: 1636
Gene Symbol: ACE
ACE
CUI: C0337438
Disease:
Glucose measurement 		G 0.700 GeneticVariation GWASDB Human metabolic individuality in biomedical and pharmaceutical research. 21886157 2011
dbSNP: rs4329
rs4329
Entrez Id: 1636
Gene Symbol: ACE
ACE
CUI: C0495706
Disease:
elevated blood glucose level 		G 0.700 GeneticVariation GWASDB Human metabolic individuality in biomedical and pharmaceutical research. 21886157 2011
dbSNP: rs4343
rs4343
Entrez Id: 1636
Gene Symbol: ACE
ACE
CUI: C0523465
Disease:
Serum albumin measurement 		G 0.700 GeneticVariation GWASDB Genetic determinants influencing human serum metabolome among African Americans. 24625756 2014
dbSNP: rs4343
rs4343
Entrez Id: 1636
Gene Symbol: ACE
ACE
CUI: C0523465
Disease:
Serum albumin measurement 		A 0.700 GeneticVariation GWASDB Genetic determinants influencing human serum metabolome among African Americans. 24625756 2014
dbSNP: rs4344
rs4344
Entrez Id: 1636
Gene Symbol: ACE
ACE
CUI: C2985280
Disease:
Blood Protein Measurement 		A 0.700 GeneticVariation GWASCAT Co-regulatory networks of human serum proteins link genetics to disease. 30072576 2018
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: 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: 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