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: C1168401
Disease:
Squamous cell carcinoma of the head and neck
0.010 GeneticVariation BEFREE We assessed the difference in transcription activity of two HIF-1alpha polymorphic variants (P582S and A588T), along with molecular epidemiological study among head and neck squamous cell carcinoma (HNSCC) patients. 12919954 2003
dbSNP: rs11549467
rs11549467
Entrez Id: 3091;105370526
Gene Symbol: HIF1A;HIF1A-AS3
HIF1A;HIF1A-AS3
CUI: C1168401
Disease:
Squamous cell carcinoma of the head and neck
0.010 GeneticVariation BEFREE We assessed the difference in transcription activity of two HIF-1alpha polymorphic variants (P582S and A588T), along with molecular epidemiological study among head and neck squamous cell carcinoma (HNSCC) patients. 12919954 2003
dbSNP: rs11549465
rs11549465
Entrez Id: 3091;105370526
Gene Symbol: HIF1A;HIF1A-AS3
HIF1A;HIF1A-AS3
CUI: C0006826
Disease:
Malignant Neoplasms
0.060 GeneticVariation BEFREE The P582S HIF-1alpha is a stable variant and HIF-1alpha mutation is a mechanism for enhancing HIF-1alpha activity in human cancer. 15538748 2005
dbSNP: rs11549465
rs11549465
Entrez Id: 3091;105370526
Gene Symbol: HIF1A;HIF1A-AS3
HIF1A;HIF1A-AS3
CUI: C1306459
Disease:
Primary malignant neoplasm
0.050 GeneticVariation BEFREE The P582S HIF-1alpha is a stable variant and HIF-1alpha mutation is a mechanism for enhancing HIF-1alpha activity in human cancer. 15538748 2005
dbSNP: rs11549465
rs11549465
Entrez Id: 3091;105370526
Gene Symbol: HIF1A;HIF1A-AS3
HIF1A;HIF1A-AS3
CUI: C0027651
Disease:
Neoplasms
0.010 GeneticVariation BEFREE The recent identification of the identical P582S HIF-1alpha as a polymorphism suggests that this variant may increase tumor susceptibility or cause more aggressive biological behavior. 15538748 2005
dbSNP: rs11549465
rs11549465
Entrez Id: 3091;105370526
Gene Symbol: HIF1A;HIF1A-AS3
HIF1A;HIF1A-AS3
CUI: C0027627
Disease:
Neoplasm Metastasis
0.020 GeneticVariation BEFREE The Pro582Ser change in HIF-1alpha was detected in six patients (11%) and was positively correlated with the development of metastases (P=0.023). 15809750 2005
dbSNP: rs11549465
rs11549465
Entrez Id: 3091;105370526
Gene Symbol: HIF1A;HIF1A-AS3
HIF1A;HIF1A-AS3
CUI: C2939419
Disease:
Secondary Neoplasm
0.010 GeneticVariation BEFREE The Pro582Ser change in HIF-1alpha was detected in six patients (11%) and was positively correlated with the development of metastases (P=0.023). 15809750 2005
dbSNP: rs11549465
rs11549465
Entrez Id: 3091;105370526
Gene Symbol: HIF1A;HIF1A-AS3
HIF1A;HIF1A-AS3
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent
0.020 GeneticVariation BEFREE This is the first report that HIF-1alpha is associated with the occurrence of type 2 diabetes and suggests that the P582S HIF-1alpha mutation should be assessed in larger studies as a risk factor for type 2 diabetes. 16046581 2005
dbSNP: rs11549465
rs11549465
Entrez Id: 3091;105370526
Gene Symbol: HIF1A;HIF1A-AS3
HIF1A;HIF1A-AS3
CUI: C0035309
Disease:
Retinal Diseases
0.020 GeneticVariation BEFREE The P582S HIF-1alpha mutation was associated with type 2 diabetes (P = 0.0028) by a consistently higher level of transcriptional activity than wild type, especially under hypoxic condition (P = 0.012), but no association with retinopathy was detected. 16046581 2005
dbSNP: rs11549465
rs11549465
Entrez Id: 3091;105370526
Gene Symbol: HIF1A;HIF1A-AS3
HIF1A;HIF1A-AS3
CUI: C0376358
Disease:
Malignant neoplasm of prostate
0.060 GeneticVariation BEFREE Our data suggest that homozygous HIF1A P582S mutation confers significant susceptibility to prostate cancer. 16998808 2007
dbSNP: rs11549465
rs11549465
Entrez Id: 3091;105370526
Gene Symbol: HIF1A;HIF1A-AS3
HIF1A;HIF1A-AS3
CUI: C0600139
Disease:
Prostate carcinoma
0.050 GeneticVariation BEFREE Our data suggest that homozygous HIF1A P582S mutation confers significant susceptibility to prostate cancer. 16998808 2007
dbSNP: rs11549467
rs11549467
Entrez Id: 3091;105370526
Gene Symbol: HIF1A;HIF1A-AS3
HIF1A;HIF1A-AS3
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
dbSNP: rs11549467
rs11549467
Entrez Id: 3091;105370526
Gene Symbol: HIF1A;HIF1A-AS3
HIF1A;HIF1A-AS3
CUI: C0600139
Disease:
Prostate carcinoma
0.030 GeneticVariation BEFREE No significant differences were found between the frequencies of A588T mutation in prostate cancer patients and controls. 16998808 2007
dbSNP: rs763538721
rs763538721
Entrez Id: 3091;105370526
Gene Symbol: HIF1A;HIF1A-AS3
HIF1A;HIF1A-AS3
CUI: C0025202
Disease:
melanoma
0.040 GeneticVariation BEFREE Our data show for the first time that BRAF(V600E) mutation increases HIF-1alpha expression and melanoma cell survival under hypoxic conditions and suggest that effects of the oncogenic V600E BRAF mutation may be partially mediated through the HIF-1alpha pathway. 17409425 2007
dbSNP: rs11549465
rs11549465
Entrez Id: 3091;105370526
Gene Symbol: HIF1A;HIF1A-AS3
HIF1A;HIF1A-AS3
CUI: C1654637
Disease:
androgen independent prostate cancer
0.010 GeneticVariation BEFREE However, we found that, among men with the homozygous CC wild-type (but not CT/TT) of the HIF-1alpha P582S, higher IGFBP-3 levels (>/= vs. <median) were associated with a 28% (95% CI, 0.55-0.95; P(interaction) = 0.01) lower risk of overall CaP and a 53% (0.25-0.88; P(interaction) = 0.11) lower risk of metastatic and fatal CaP. 17624927 2007
dbSNP: rs11549467
rs11549467
Entrez Id: 3091;105370526
Gene Symbol: HIF1A;HIF1A-AS3
HIF1A;HIF1A-AS3
CUI: C1654637
Disease:
androgen independent prostate cancer
0.010 GeneticVariation BEFREE Neither the P582S nor the A588T polymorphism was associated with risk of overall or metastatic/fatal CaP. 17624927 2007
dbSNP: rs41508050
rs41508050
Entrez Id: 3091;105370526
Gene Symbol: HIF1A;HIF1A-AS3
HIF1A;HIF1A-AS3
CUI: C0577698
Disease:
Exercise-induced angina
0.010 GeneticVariation BEFREE Three polymorphisms in HIF1A (Pro582Ser, rs11549465; rs1087314; and Thr418Ile, rs41508050) were significantly more common in patients who presented with stable exertional angina rather than acute MI, even after statistical adjustment for cardiac risk factors and medications. 18035072 2007
dbSNP: rs41508050
rs41508050
Entrez Id: 3091;105370526
Gene Symbol: HIF1A;HIF1A-AS3
HIF1A;HIF1A-AS3
CUI: C0155626
Disease:
Acute myocardial infarction
0.010 GeneticVariation BEFREE Three polymorphisms in HIF1A (Pro582Ser, rs11549465; rs1087314; and Thr418Ile, rs41508050) were significantly more common in patients who presented with stable exertional angina rather than acute MI, even after statistical adjustment for cardiac risk factors and medications. 18035072 2007
dbSNP: rs11549465
rs11549465
Entrez Id: 3091;105370526
Gene Symbol: HIF1A;HIF1A-AS3
HIF1A;HIF1A-AS3
CUI: C0678222
Disease:
Breast Carcinoma
0.020 GeneticVariation BEFREE Our findings support the hypothesis that the HIF-1Alpha P582S variant may confer susceptibility to subgroups of breast cancer in Korean women. 18160046 2008
dbSNP: rs11549465
rs11549465
Entrez Id: 3091;105370526
Gene Symbol: HIF1A;HIF1A-AS3
HIF1A;HIF1A-AS3
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.020 GeneticVariation BEFREE Our findings support the hypothesis that the HIF-1Alpha P582S variant may confer susceptibility to subgroups of breast cancer in Korean women. 18160046 2008
dbSNP: rs11549465
rs11549465
Entrez Id: 3091;105370526
Gene Symbol: HIF1A;HIF1A-AS3
HIF1A;HIF1A-AS3
CUI: C0376358
Disease:
Malignant neoplasm of prostate
0.060 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
dbSNP: rs11549467
rs11549467
Entrez Id: 3091;105370526
Gene Symbol: HIF1A;HIF1A-AS3
HIF1A;HIF1A-AS3
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
dbSNP: rs11549465
rs11549465
Entrez Id: 3091;105370526
Gene Symbol: HIF1A;HIF1A-AS3
HIF1A;HIF1A-AS3
CUI: C0279702
Disease:
Conventional (Clear Cell) Renal Cell Carcinoma
0.030 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
dbSNP: rs11549465
rs11549465
Entrez Id: 3091;105370526
Gene Symbol: HIF1A;HIF1A-AS3
HIF1A;HIF1A-AS3
CUI: C0007134
Disease:
Renal Cell Carcinoma
0.030 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
dbSNP: rs11549467
rs11549467
Entrez Id: 3091;105370526
Gene Symbol: HIF1A;HIF1A-AS3
HIF1A;HIF1A-AS3
CUI: C0007134
Disease:
Renal Cell Carcinoma
0.030 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