Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Malignant neoplasm of lung
CUI: C0242379
Disease: Malignant neoplasm of lung
0.040 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
Malignant Neoplasms
CUI: C0006826
Disease: Malignant Neoplasms
0.040 GeneticVariation BEFREE HIF-1α G (A588T) polymorphism has been shown to lead to genetic susceptibility to malignant tumors but results have been controversial. 25688508 2015
Malignant neoplasm of lung
CUI: C0242379
Disease: Malignant neoplasm of lung
0.040 GeneticVariation BEFREE When stratified by study design, significantly elevated susceptibility to cancer was found among hospital-based studies.These findings suggested that the 1790G/A (rs11549467) genetic polymorphism may contribute to the susceptibility of cancers except gynecologic cancer, especially in homozygote comparison and recessive genetic model among Caucasian population, and this SNP was significantly associated with the lung cancer, pancreatic cancer and oral squamous cell carcinoma (OSCC). 24824937 2014
Malignant Neoplasms
CUI: C0006826
Disease: Malignant Neoplasms
0.040 GeneticVariation BEFREE When stratified by study design, significantly elevated susceptibility to cancer was found among hospital-based studies.These findings suggested that the 1790G/A (rs11549467) genetic polymorphism may contribute to the susceptibility of cancers except gynecologic cancer, especially in homozygote comparison and recessive genetic model among Caucasian population, and this SNP was significantly associated with the lung cancer, pancreatic cancer and oral squamous cell carcinoma (OSCC). 24824937 2014
Malignant Neoplasms
CUI: C0006826
Disease: Malignant Neoplasms
0.040 GeneticVariation BEFREE Our findings suggest that the HIF-1α A588T polymorphism is significantly associated with higher cancer risk and the P582S polymorphism is significantly associated with pancreatic cancer risk. 24293391 2014
Malignant neoplasm of prostate
CUI: C0376358
Disease: Malignant neoplasm of prostate
0.040 GeneticVariation BEFREE The current findings suggest that HIF1A P582S polymorphism correlates with urinary cancers risk in Caucasian population, while A588T polymorphism may increase the risk of urinary cancers in Asian population and prostate cancer. 23723982 2013
Malignant neoplasm of prostate
CUI: C0376358
Disease: Malignant neoplasm of prostate
0.040 GeneticVariation BEFREE However, the combined variant genotypes of rs2057482 and rs11549467 were associated with increased PCa risk (OR=2.10; 95%CI=1.23-3.57 among subjects carrying three or more risk alleles). 23042446 2012
Malignant Neoplasms
CUI: C0006826
Disease: Malignant Neoplasms
0.040 GeneticVariation BEFREE Compared with rs11549467 GG genotype, the variant genotypes GA+AA had a significantly increased PCa risk (adjusted odds ratio (OR)=1.70; 95% confidence interval (CI)=1.06-2.72), particularly among older patients (OR=2.01; 95%CI=1.05-3.86), smokers (OR=2.06; 95%CI=1.07-3.99), never drinkers (OR=2.16; 95%CI=1.20-3.86) and patients without a family history of cancer (OR=1.71; 95%CI=1.02-2.89). 23042446 2012
Malignant neoplasm of lung
CUI: C0242379
Disease: Malignant neoplasm of lung
0.040 GeneticVariation BEFREE The roles of the polymorphic HIF-1α variants, C1772T (P582S) and G1790A (A588T), which are known to enhance transcriptional activity, were evaluated in lung cancers. 21435097 2011
Malignant neoplasm of lung
CUI: C0242379
Disease: Malignant neoplasm of lung
0.040 GeneticVariation BEFREE In this study, we have investigated the relationship between seven HIF-1alphapolymorphisms [C > T substitution in intron 8 (rs10873142), T418I (rs41508050) in exon 10, P564P (rs41492849), L580L (rs34005929), P582S (rs11549465), A588T (rs11549467) in exon 12 and dinucleotide GT repeats in intron 13 (rs10645014)] among lung cancer patients in the Turkish population. 19546348 2009
Malignant neoplasm of prostate
CUI: C0376358
Disease: Malignant neoplasm of prostate
0.040 GeneticVariation BEFREE In previous studies, the C1772T (P582S) or the G1790A (A588T) polymorphisms of the HIF-1alpha gene have been identified in renal cell carcinoma, head and neck and esophageal squamous cell carcinomas as well as colorectal and prostate cancers. 18949419 2008
Malignant neoplasm of prostate
CUI: C0376358
Disease: Malignant neoplasm of prostate
0.040 GeneticVariation BEFREE No significant differences were found between the frequencies of A588T mutation in prostate cancer patients and controls. 16998808 2007
Renal Cell Carcinoma
CUI: C0007134
Disease: Renal Cell Carcinoma
0.030 GeneticVariation BEFREE This meta-analysis was performed to assess the relationship between HIF-1α C1772T (rs11549465)/G1790A (rs11549467) gene polymorphism and RCC risk. 30539853 2018
Primary malignant neoplasm of lung
CUI: C1306460
Disease: Primary malignant neoplasm of lung
0.030 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
Carcinoma of lung
CUI: C0684249
Disease: Carcinoma of lung
0.030 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
Carcinoma of lung
CUI: C0684249
Disease: Carcinoma of lung
0.030 GeneticVariation BEFREE When stratified by study design, significantly elevated susceptibility to cancer was found among hospital-based studies.These findings suggested that the 1790G/A (rs11549467) genetic polymorphism may contribute to the susceptibility of cancers except gynecologic cancer, especially in homozygote comparison and recessive genetic model among Caucasian population, and this SNP was significantly associated with the lung cancer, pancreatic cancer and oral squamous cell carcinoma (OSCC). 24824937 2014
Primary malignant neoplasm of lung
CUI: C1306460
Disease: Primary malignant neoplasm of lung
0.030 GeneticVariation BEFREE When stratified by study design, significantly elevated susceptibility to cancer was found among hospital-based studies.These findings suggested that the 1790G/A (rs11549467) genetic polymorphism may contribute to the susceptibility of cancers except gynecologic cancer, especially in homozygote comparison and recessive genetic model among Caucasian population, and this SNP was significantly associated with the lung cancer, pancreatic cancer and oral squamous cell carcinoma (OSCC). 24824937 2014
Primary malignant neoplasm
CUI: C1306459
Disease: Primary malignant neoplasm
0.030 GeneticVariation BEFREE Our findings suggest that the HIF-1α A588T polymorphism is significantly associated with higher cancer risk and the P582S polymorphism is significantly associated with pancreatic cancer risk. 24293391 2014
Primary malignant neoplasm
CUI: C1306459
Disease: Primary malignant neoplasm
0.030 GeneticVariation BEFREE When stratified by study design, significantly elevated susceptibility to cancer was found among hospital-based studies.These findings suggested that the 1790G/A (rs11549467) genetic polymorphism may contribute to the susceptibility of cancers except gynecologic cancer, especially in homozygote comparison and recessive genetic model among Caucasian population, and this SNP was significantly associated with the lung cancer, pancreatic cancer and oral squamous cell carcinoma (OSCC). 24824937 2014
Prostate carcinoma
CUI: C0600139
Disease: Prostate carcinoma
0.030 GeneticVariation BEFREE The current findings suggest that HIF1A P582S polymorphism correlates with urinary cancers risk in Caucasian population, while A588T polymorphism may increase the risk of urinary cancers in Asian population and prostate cancer. 23723982 2013
Primary malignant neoplasm
CUI: C1306459
Disease: Primary malignant neoplasm
0.030 GeneticVariation BEFREE Compared with rs11549467 GG genotype, the variant genotypes GA+AA had a significantly increased PCa risk (adjusted odds ratio (OR)=1.70; 95% confidence interval (CI)=1.06-2.72), particularly among older patients (OR=2.01; 95%CI=1.05-3.86), smokers (OR=2.06; 95%CI=1.07-3.99), never drinkers (OR=2.16; 95%CI=1.20-3.86) and patients without a family history of cancer (OR=1.71; 95%CI=1.02-2.89). 23042446 2012
Renal Cell Carcinoma
CUI: C0007134
Disease: Renal Cell Carcinoma
0.030 GeneticVariation BEFREE We genotyped four potentially functional single-nucleotide polymorphisms (rs779805 in VHL and rs11549465, rs11549467, and rs2057482 in HIF1A) and assessed their associations with RCC risk, clinicopathologic parameters in a case-control study of 620 patients and 623 controls, and the prognosis of RCC in a cohort of 311 patients. 21778301 2012
Prostate carcinoma
CUI: C0600139
Disease: Prostate carcinoma
0.030 GeneticVariation BEFREE However, the combined variant genotypes of rs2057482 and rs11549467 were associated with increased PCa risk (OR=2.10; 95%CI=1.23-3.57 among subjects carrying three or more risk alleles). 23042446 2012
Carcinoma of lung
CUI: C0684249
Disease: Carcinoma of lung
0.030 GeneticVariation BEFREE In this study, we have investigated the relationship between seven HIF-1alphapolymorphisms [C > T substitution in intron 8 (rs10873142), T418I (rs41508050) in exon 10, P564P (rs41492849), L580L (rs34005929), P582S (rs11549465), A588T (rs11549467) in exon 12 and dinucleotide GT repeats in intron 13 (rs10645014)] among lung cancer patients in the Turkish population. 19546348 2009
Primary malignant neoplasm of lung
CUI: C1306460
Disease: Primary malignant neoplasm of lung
0.030 GeneticVariation BEFREE In this study, we have investigated the relationship between seven HIF-1alphapolymorphisms [C > T substitution in intron 8 (rs10873142), T418I (rs41508050) in exon 10, P564P (rs41492849), L580L (rs34005929), P582S (rs11549465), A588T (rs11549467) in exon 12 and dinucleotide GT repeats in intron 13 (rs10645014)] among lung cancer patients in the Turkish population. 19546348 2009