HIF1A, hypoxia inducible factor 1 subunit alpha, 3091

N. diseases: 1044; N. variants: 15
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs11549465
rs11549465
Entrez Id: 3091;105370526
Gene Symbol: HIF1A;HIF1A-AS3
HIF1A;HIF1A-AS3
CUI: C0020456
Disease:
Hyperglycemia
0.010 GeneticVariation BEFREE Moreover, the relative resistance of the <i>HIF-1A</i> Pro582Ser polymorphism to the repressive effect of hyperglycemia is due to the transactivation activity rather than the protein stability of HIF-1<i>α</i>. 31214621 2019
dbSNP: rs11549465
rs11549465
Entrez Id: 3091;105370526
Gene Symbol: HIF1A;HIF1A-AS3
HIF1A;HIF1A-AS3
CUI: C0020538
Disease:
Hypertensive disease
0.010 GeneticVariation BEFREE We identified a protective effect of <i>HIF-1A</i> Pro582Ser against developing severe DR with a risk reduction of 95%, even when adjusting for known risk factors for DR such as diabetes duration, hyperglycemia, and hypertension. 31214621 2019
dbSNP: rs11549465
rs11549465
Entrez Id: 3091;105370526
Gene Symbol: HIF1A;HIF1A-AS3
HIF1A;HIF1A-AS3
CUI: C0011884
Disease:
Diabetic Retinopathy
0.010 GeneticVariation BEFREE We identified a protective effect of <i>HIF-1A</i> Pro582Ser against developing severe DR with a risk reduction of 95%, even when adjusting for known risk factors for DR such as diabetes duration, hyperglycemia, and hypertension. 31214621 2019
dbSNP: rs11549465
rs11549465
Entrez Id: 3091;105370526
Gene Symbol: HIF1A;HIF1A-AS3
HIF1A;HIF1A-AS3
CUI: C0149721
Disease:
Left Ventricular Hypertrophy
0.010 GeneticVariation BEFREE The distribution differences of gene frequencies for rs11549465, rs11549467 and rs1957757 in HIF1A single nucleotide gene polymorphisms for LVH (+) and LVH (-) were statistically significant (p<0.05). 31599436 2019
dbSNP: rs11549467
rs11549467
Entrez Id: 3091;105370526
Gene Symbol: HIF1A;HIF1A-AS3
HIF1A;HIF1A-AS3
CUI: C0149721
Disease:
Left Ventricular Hypertrophy
0.010 GeneticVariation BEFREE The distribution differences of gene frequencies for rs11549465, rs11549467 and rs1957757 in HIF1A single nucleotide gene polymorphisms for LVH (+) and LVH (-) were statistically significant (p<0.05). 31599436 2019
dbSNP: rs1957757
rs1957757
Entrez Id: 3091;105370526
Gene Symbol: HIF1A;HIF1A-AS3
HIF1A;HIF1A-AS3
CUI: C0149721
Disease:
Left Ventricular Hypertrophy
0.010 GeneticVariation BEFREE The distribution differences of gene frequencies for rs11549465, rs11549467 and rs1957757 in HIF1A single nucleotide gene polymorphisms for LVH (+) and LVH (-) were statistically significant (p<0.05). 31599436 2019
dbSNP: rs2057482
rs2057482
Entrez Id: 3091;100750247;105370526
Gene Symbol: HIF1A;HIF1A-AS2;HIF1A-AS3
HIF1A;HIF1A-AS2;HIF1A-AS3
CUI: C0027051
Disease:
Myocardial Infarction
0.010 GeneticVariation BEFREE Taken together, this study provides additional evidence that genetic variation of the PECAM1 rs1867624 and HIF1A rs2057482 can mediate lipid levels in MI patients. 30678728 2019
dbSNP: rs41508050
rs41508050
Entrez Id: 3091;105370526
Gene Symbol: HIF1A;HIF1A-AS3
HIF1A;HIF1A-AS3
CUI: C1956346
Disease:
Coronary Artery Disease
0.010 GeneticVariation BEFREE In the meta-analysis of HIF1A, the rs11549465 C > T and rs10873142 T > C polymorphisms, but not rs2057482, rs11549467, and rs41508050, were correlated with overall MI or CAD risk. 30678728 2019
dbSNP: rs41508050
rs41508050
Entrez Id: 3091;105370526
Gene Symbol: HIF1A;HIF1A-AS3
HIF1A;HIF1A-AS3
CUI: C0027051
Disease:
Myocardial Infarction
0.010 GeneticVariation BEFREE In the meta-analysis of HIF1A, the rs11549465 C > T and rs10873142 T > C polymorphisms, but not rs2057482, rs11549467, and rs41508050, were correlated with overall MI or CAD risk. 30678728 2019
dbSNP: rs763538721
rs763538721
Entrez Id: 3091;105370526
Gene Symbol: HIF1A;HIF1A-AS3
HIF1A;HIF1A-AS3
CUI: C0549473
Disease:
Thyroid carcinoma
0.010 GeneticVariation BEFREE Furthermore, glycolysis-related enzymes, such as LDHA and PKM2, were upregulated in BRAF V600E </span>mutant thyroid cancer specimens, thereby promoting glycolysis. 30768848 2019
dbSNP: rs763538721
rs763538721
Entrez Id: 3091;105370526
Gene Symbol: HIF1A;HIF1A-AS3
HIF1A;HIF1A-AS3
CUI: C0040136
Disease:
Thyroid Neoplasm
0.010 GeneticVariation BEFREE Furthermore, glycolysis-related enzymes, such as LDHA and PKM2, were upregulated in BRAF V600E </span>mutant thyroid cancer specimens, thereby promoting glycolysis. 30768848 2019
dbSNP: rs763538721
rs763538721
Entrez Id: 3091;105370526
Gene Symbol: HIF1A;HIF1A-AS3
HIF1A;HIF1A-AS3
CUI: C0007115
Disease:
Malignant neoplasm of thyroid
0.010 GeneticVariation BEFREE Furthermore, glycolysis-related enzymes, such as LDHA and PKM2, were upregulated in BRAF V600E </span>mutant thyroid cancer specimens, thereby promoting glycolysis. 30768848 2019
dbSNP: rs10873142
rs10873142
Entrez Id: 3091;105370526
Gene Symbol: HIF1A;HIF1A-AS3
HIF1A;HIF1A-AS3
CUI: C0024117
Disease:
Chronic Obstructive Airway Disease
0.010 GeneticVariation BEFREE To the best of our knowledge, this is the first case-control study uncovering that the <i>HIF1A</i> gene rs10873142 polymorphism increases the risk of COPD in a Chinese Han population. 29339421 2018
dbSNP: rs11549465
rs11549465
Entrez Id: 3091;105370526
Gene Symbol: HIF1A;HIF1A-AS3
HIF1A;HIF1A-AS3
CUI: C0027794
Disease:
Neural Tube Defects
0.010 GeneticVariation BEFREE The results of this study show that Hif-1α Pro582Ser and TGF-β3 IVS5+104 A/G SfaN1 polymorphisms may play a role in NTDs. 30672442 2018
dbSNP: rs11549465
rs11549465
Entrez Id: 3091;105370526
Gene Symbol: HIF1A;HIF1A-AS3
HIF1A;HIF1A-AS3
CUI: C1306460
Disease:
Primary malignant neoplasm of lung
0.010 GeneticVariation BEFREE We examined the effect of HIF1A rs11549467, HIF1A rs11549465, HIF1A rs2057482, HIF2A rs13419896 and vascular endothelial growth factor A (VEGFA) rs833061 on the risk of lung cancer using TaqMan real-time PCR assay. 27981753 2017
dbSNP: rs11549465
rs11549465
Entrez Id: 3091;105370526
Gene Symbol: HIF1A;HIF1A-AS3
HIF1A;HIF1A-AS3
CUI: C0684249
Disease:
Carcinoma of lung
0.010 GeneticVariation BEFREE We examined the effect of HIF1A rs11549467, HIF1A rs11549465, HIF1A rs2057482, HIF2A rs13419896 and vascular endothelial growth factor A (VEGFA) rs833061 on the risk of lung cancer using TaqMan real-time PCR assay. 27981753 2017
dbSNP: rs11549465
rs11549465
Entrez Id: 3091;105370526
Gene Symbol: HIF1A;HIF1A-AS3
HIF1A;HIF1A-AS3
CUI: C0024117
Disease:
Chronic Obstructive Airway Disease
0.010 GeneticVariation BEFREE Patients with rs11549465 CT + TT had higher COPD risk than those with the CC genotype. 28865600 2017
dbSNP: rs11549465
rs11549465
Entrez Id: 3091;105370526
Gene Symbol: HIF1A;HIF1A-AS3
HIF1A;HIF1A-AS3
CUI: C0151449
Disease:
Primary Sjögren's syndrome
0.010 GeneticVariation BEFREE We identified <i>HIF1A Pro582Ser T</i> allele and <i>C</i>/<i>T</i> genotype as well as <i>AKNA -1372C>A</i> polymorphism A/A genotype as genetic factors associated with pSS. 28484714 2017
dbSNP: rs11549467
rs11549467
Entrez Id: 3091;105370526
Gene Symbol: HIF1A;HIF1A-AS3
HIF1A;HIF1A-AS3
CUI: C0024117
Disease:
Chronic Obstructive Airway Disease
0.010 GeneticVariation BEFREE HIF-1α rs11549467 polymorphism may be associated with COPD risk. 28865600 2017
dbSNP: rs142179458
rs142179458
Entrez Id: 3091;105370526
Gene Symbol: HIF1A;HIF1A-AS3
HIF1A;HIF1A-AS3
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.010 GeneticVariation BEFREE Subtype analysis performed for patient subgroups defined by ER, PR, and HER2 status suggested additional associations of the <i>NOTCH3</i> SNP rs200504060 and the <i>HIF1A</i> SNP rs142179458 with breast cancer risk. 28775167 2017
dbSNP: rs142179458
rs142179458
Entrez Id: 3091;105370526
Gene Symbol: HIF1A;HIF1A-AS3
HIF1A;HIF1A-AS3
CUI: C0678222
Disease:
Breast Carcinoma
0.010 GeneticVariation BEFREE Subtype analysis performed for patient subgroups defined by ER, PR, and HER2 status suggested additional associations of the <i>NOTCH3</i> SNP rs200504060 and the <i>HIF1A</i> SNP rs142179458 with breast cancer risk. 28775167 2017
dbSNP: rs2057482
rs2057482
Entrez Id: 3091;100750247;105370526
Gene Symbol: HIF1A;HIF1A-AS2;HIF1A-AS3
HIF1A;HIF1A-AS2;HIF1A-AS3
CUI: C1306460
Disease:
Primary malignant neoplasm of lung
0.010 GeneticVariation BEFREE We examined the effect of HIF1A rs11549467, HIF1A rs11549465, HIF1A rs2057482, HIF2A rs13419896 and vascular endothelial growth factor A (VEGFA) rs833061 on the risk of lung cancer using TaqMan real-time PCR assay. 27981753 2017
dbSNP: rs2057482
rs2057482
Entrez Id: 3091;100750247;105370526
Gene Symbol: HIF1A;HIF1A-AS2;HIF1A-AS3
HIF1A;HIF1A-AS2;HIF1A-AS3
CUI: C0242379
Disease:
Malignant neoplasm of lung
0.010 GeneticVariation BEFREE We examined the effect of HIF1A rs11549467, HIF1A rs11549465, HIF1A rs2057482, HIF2A rs13419896 and vascular endothelial growth factor A (VEGFA) rs833061 on the risk of lung cancer using TaqMan real-time PCR assay. 27981753 2017
dbSNP: rs2057482
rs2057482
Entrez Id: 3091;100750247;105370526
Gene Symbol: HIF1A;HIF1A-AS2;HIF1A-AS3
HIF1A;HIF1A-AS2;HIF1A-AS3
CUI: C0684249
Disease:
Carcinoma of lung
0.010 GeneticVariation BEFREE We examined the effect of HIF1A rs11549467, HIF1A rs11549465, HIF1A rs2057482, HIF2A rs13419896 and vascular endothelial growth factor A (VEGFA) rs833061 on the risk of lung cancer using TaqMan real-time PCR assay. 27981753 2017
dbSNP: rs11549465
rs11549465
Entrez Id: 3091;105370526
Gene Symbol: HIF1A;HIF1A-AS3
HIF1A;HIF1A-AS3
CUI: C0014175
Disease:
Endometriosis
0.010 GeneticVariation BEFREE The associations between the presence of endometriosis and SNPs in PLGF (rs2268614), HIF-1α (rs11549465), and VEGFR1 (rs9582036) genes lost statistical significance after multiple testing. 26773192 2016