ANGPT1, angiopoietin 1, 284

N. diseases: 340; N. variants: 18
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1283686
rs1283686
Entrez Id: 284
Gene Symbol: ANGPT1
ANGPT1
CUI: C1261502
Disease:
Finding of Mean Corpuscular Hemoglobin
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs1283705
rs1283705
Entrez Id: 284
Gene Symbol: ANGPT1
ANGPT1
CUI: C0014772
Disease:
Red Blood Cell Count measurement
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs10505100
rs10505100
Entrez Id: 284
Gene Symbol: ANGPT1
ANGPT1
CUI: C0017601
Disease:
Glaucoma
A 0.700 GeneticVariation GWASCAT Genome-wide association study of intraocular pressure uncovers new pathways to glaucoma. 30054594 2018
dbSNP: rs10505102
rs10505102
Entrez Id: 284
Gene Symbol: ANGPT1
ANGPT1
CUI: C0040420
Disease:
Tonometry
T 0.700 GeneticVariation GWASCAT Genome-wide association analyses identify new loci influencing intraocular pressure. 29617998 2018
dbSNP: rs13270051
rs13270051
Entrez Id: 284
Gene Symbol: ANGPT1
ANGPT1
CUI: C0040420
Disease:
Tonometry
C 0.700 GeneticVariation GWASCAT Genome-wide association analyses identify new loci influencing intraocular pressure. 29617998 2018
dbSNP: rs2514882
rs2514882
Entrez Id: 284
Gene Symbol: ANGPT1
ANGPT1
CUI: C0017612
Disease:
Glaucoma, Open-Angle
T 0.700 GeneticVariation GWASCAT A multiethnic genome-wide association study of primary open-angle glaucoma identifies novel risk loci. 29891935 2018
dbSNP: rs4496939
rs4496939
Entrez Id: 284
Gene Symbol: ANGPT1
ANGPT1
CUI: C0040420
Disease:
Tonometry
0.700 GeneticVariation GWASCAT Genome-wide association study of intraocular pressure uncovers new pathways to glaucoma. 30054594 2018
dbSNP: rs4496939
rs4496939
Entrez Id: 284
Gene Symbol: ANGPT1
ANGPT1
CUI: C0040420
Disease:
Tonometry
A 0.700 GeneticVariation GWASCAT Genome-wide analyses identify 68 new loci associated with intraocular pressure and improve risk prediction for primary open-angle glaucoma. 29785010 2018
dbSNP: rs66602224
rs66602224
Entrez Id: 284
Gene Symbol: ANGPT1
ANGPT1
CUI: C0040420
Disease:
Tonometry
0.700 GeneticVariation GWASCAT Genome-wide association study of intraocular pressure uncovers new pathways to glaucoma. 30054594 2018
dbSNP: rs7004172
rs7004172
Entrez Id: 284
Gene Symbol: ANGPT1
ANGPT1
CUI: C0040420
Disease:
Tonometry
G 0.700 GeneticVariation GWASCAT Genome-wide analyses identify 68 new loci associated with intraocular pressure and improve risk prediction for primary open-angle glaucoma. 29785010 2018
dbSNP: rs73701100
rs73701100
Entrez Id: 284
Gene Symbol: ANGPT1
ANGPT1
CUI: C2985280
Disease:
Blood Protein Measurement
C 0.700 GeneticVariation GWASCAT Co-regulatory networks of human serum proteins link genetics to disease. 30072576 2018
dbSNP: rs10105844
rs10105844
Entrez Id: 284
Gene Symbol: ANGPT1
ANGPT1
CUI: C0040420
Disease:
Tonometry
0.700 GeneticVariation GWASCAT A large multi-ethnic genome-wide association study identifies novel genetic loci for intraocular pressure. 29235454 2017
dbSNP: rs145224266
rs145224266
Entrez Id: 284
Gene Symbol: ANGPT1
ANGPT1
CUI: C0206161
Disease:
Reticulocyte count (procedure)
A 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
dbSNP: rs1654723
rs1654723
Entrez Id: 284
Gene Symbol: ANGPT1
ANGPT1
CUI: C0206161
Disease:
Reticulocyte count (procedure)
G 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
dbSNP: rs764987358
rs764987358
Entrez Id: 284
Gene Symbol: ANGPT1
ANGPT1
CUI: C0019243
Disease:
Angioedemas, Hereditary
0.020 GeneticVariation BEFREE The recent discovery of associations between PLG K330E and ANGPT1 A119S and HAE of unknown genetic cause (HAE-U), has raised the possibility that genetic evaluation could be used to diagnose HAE-U in patients with unexplained angioedema or non-confirmatory laboratory testing. 31131012 2019
dbSNP: rs764987358
rs764987358
Entrez Id: 284
Gene Symbol: ANGPT1
ANGPT1
CUI: C0019243
Disease:
Angioedemas, Hereditary
0.020 GeneticVariation BEFREE The ANGPT1 p.A119S variant was detected in all members of the index family with U-HA</span>E but not in asymptomatic family members or an additional 20 patients with familial U-HAE, 22 patients with sporadic U-HAE, and 200 control subjects. 28601681 2018
dbSNP: rs1654701
rs1654701
Entrez Id: 284
Gene Symbol: ANGPT1
ANGPT1
CUI: C1306460
Disease:
Primary malignant neoplasm of lung
0.010 GeneticVariation BEFREE We checked the interaction effect on the ANGPT1 expression and lung cancer and found that the minor allele "G" of rs1654701 increased ANGPT1 gene expression and decreased lung cancer risk with the increased dosage of "A" of rs4262299, which consistent with the tumor suppressor function of ANGPT1. 31385379 2019
dbSNP: rs1654701
rs1654701
Entrez Id: 284
Gene Symbol: ANGPT1
ANGPT1
CUI: C0684249
Disease:
Carcinoma of lung
0.010 GeneticVariation BEFREE We checked the interaction effect on the ANGPT1 expression and lung cancer and found that the minor allele "G" of rs1654701 increased ANGPT1 gene expression and decreased lung cancer risk with the increased dosage of "A" of rs4262299, which consistent with the tumor suppressor function of ANGPT1. 31385379 2019
dbSNP: rs1654701
rs1654701
Entrez Id: 284
Gene Symbol: ANGPT1
ANGPT1
CUI: C0242379
Disease:
Malignant neoplasm of lung
0.010 GeneticVariation BEFREE We checked the interaction effect on the ANGPT1 expression and lung cancer and found that the minor allele "G" of rs1654701 increased ANGPT1 gene expression and decreased lung cancer risk with the increased dosage of "A" of rs4262299, which consistent with the tumor suppressor function of ANGPT1. 31385379 2019
dbSNP: rs4262299
rs4262299
Entrez Id: 284
Gene Symbol: ANGPT1
ANGPT1
CUI: C0242379
Disease:
Malignant neoplasm of lung
0.010 GeneticVariation BEFREE We checked the interaction effect on the ANGPT1 expression and lung cancer and found that the minor allele "G" of rs1654701 increased ANGPT1 gene expression and decreased lung cancer risk with the increased dosage of "A" of rs4262299, which consistent with the tumor suppressor function of ANGPT1. 31385379 2019
dbSNP: rs4262299
rs4262299
Entrez Id: 284
Gene Symbol: ANGPT1
ANGPT1
CUI: C1306460
Disease:
Primary malignant neoplasm of lung
0.010 GeneticVariation BEFREE We checked the interaction effect on the ANGPT1 expression and lung cancer and found that the minor allele "G" of rs1654701 increased ANGPT1 gene expression and decreased lung cancer risk with the increased dosage of "A" of rs4262299, which consistent with the tumor suppressor function of ANGPT1. 31385379 2019
dbSNP: rs4262299
rs4262299
Entrez Id: 284
Gene Symbol: ANGPT1
ANGPT1
CUI: C0684249
Disease:
Carcinoma of lung
0.010 GeneticVariation BEFREE We checked the interaction effect on the ANGPT1 expression and lung cancer and found that the minor allele "G" of rs1654701 increased ANGPT1 gene expression and decreased lung cancer risk with the increased dosage of "A" of rs4262299, which consistent with the tumor suppressor function of ANGPT1. 31385379 2019
dbSNP: rs764987358
rs764987358
Entrez Id: 284
Gene Symbol: ANGPT1
ANGPT1
CUI: C0085281
Disease:
Addictive Behavior
0.010 GeneticVariation BEFREE After stimulation of VEGF or bradykinin, the addiction to equimolar amounts of wtANGPT1 and ANGPT1 p.A119S clearly reduced the expression of VE-cadherin on the endothelial cell surface (31% and 24% respectively). 30689269 2019
dbSNP: rs1954727
rs1954727
Entrez Id: 284
Gene Symbol: ANGPT1
ANGPT1
CUI: C0009402
Disease:
Colorectal Carcinoma
0.010 GeneticVariation BEFREE Our data suggest that rs1954727 in ANGPT1 gene might be a prognostic biomarker for the overall survival of CRC patients, especially in those receiving chemotherapy, a finding that warrants validation in larger independent populations. 22496856 2012
dbSNP: rs2507800
rs2507800
Entrez Id: 284
Gene Symbol: ANGPT1
ANGPT1
CUI: C0013537
Disease:
Eclampsia
0.010 GeneticVariation BEFREE The prevalence of ANGPT1 rs2507800 TT genotype was reduced in women with pre-eclampsia [P = 0.01, adjusted odds ratio (aOR), 0.5; 95% confidence interval (CI), 0.3-0.9], hypertensive SGA (P = 0.04, aOR, 0.5; 95% CI, 0.2-0.9) and SGA with abnormal uterine artery Doppler (P = 0.009, aOR, 0.4. 22205728 2012