|
Erythrocytosis, Familial, 4
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
Erythrocytosis, Familial, 4
|
0.700 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
Hematocrit increased
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
Hemoglobin increased
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
Neuroendocrine Tumors
|
0.020 |
GeneticVariation
|
group |
BEFREE |
<i>EPAS1</i> gene is active under hypoxic conditions and plays an essential role in the development of the heart and in the management of the catecholamine balance, mutations of which have been identified in neuroendocrine tumors.In this article, Pan et al. investigated Tibetan patients with and without non-syndromic congenital heart disease.
|
31015364 |
2019 |
|
Congenital heart disease
|
0.020 |
GeneticVariation
|
group |
BEFREE |
<i>EPAS1</i> gene is active under hypoxic conditions and plays an essential role in the development of the heart and in the management of the catecholamine balance, mutations of which have been identified in neuroendocrine tumors.In this article, Pan et al. investigated Tibetan patients with and without non-syndromic congenital heart disease.
|
31015364 |
2019 |
|
Multiple Endocrine Neoplasia Type 2a
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
3-MT = 3-methoxytyramine; EPAS1 = endothelial pas domain protein 1; FH = fumarate hydratase; HIF2A = hypoxia inducible factor type 2A; MEN2 = multiple endocrine neoplasia type 2; NF1 = neurofibromatosis type 1; PNMT = phenylethanolamine N-methyltransferase; PPGL = pheochromocytoma and paraganglioma; RET = rearranged during transfection; SDH = succinate dehydrogenase; SDHAF2 = succinate dehydrogenase complex assembly factor 2; TCA = tricarboxylic acid; TH = tyrosine hydroxylase; TMEM127 = transmembrane protein 127; VHL = von Hippel-Lindau.
|
28332883 |
2017 |
|
Multiple endocrine neoplasia Type 2
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
3-MT = 3-methoxytyramine; EPAS1 = endothelial pas domain protein 1; FH = fumarate hydratase; HIF2A = hypoxia inducible factor type 2A; MEN2 = multiple endocrine neoplasia type 2; NF1 = neurofibromatosis type 1; PNMT = phenylethanolamine N-methyltransferase; PPGL = pheochromocytoma and paraganglioma; RET = rearranged during transfection; SDH = succinate dehydrogenase; SDHAF2 = succinate dehydrogenase complex assembly factor 2; TCA = tricarboxylic acid; TH = tyrosine hydroxylase; TMEM127 = transmembrane protein 127; VHL = von Hippel-Lindau.
|
28332883 |
2017 |
|
Paraganglioma
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
3-MT = 3-methoxytyramine; EPAS1 = endothelial pas domain protein 1; FH = fumarate hydratase; HIF2A = hypoxia inducible factor type 2A; MEN2 = multiple endocrine neoplasia type 2; NF1 = neurofibromatosis type 1; PNMT = phenylethanolamine N-methyltransferase; PPGL = pheochromocytoma and paraganglioma; RET = rearranged during transfection; SDH = succinate dehydrogenase; SDHAF2 = succinate dehydrogenase complex assembly factor 2; TCA = tricarboxylic acid; TH = tyrosine hydroxylase; TMEM127 = transmembrane protein 127; VHL = von Hippel-Lindau.
|
28332883 |
2017 |
|
Neurofibromatosis 1
|
0.020 |
AlteredExpression
|
disease |
BEFREE |
3-MT = 3-methoxytyramine; EPAS1 = endothelial pas domain protein 1; FH = fumarate hydratase; HIF2A = hypoxia inducible factor type 2A; MEN2 = multiple endocrine neoplasia type 2; NF1 = neurofibromatosis type 1; PNMT = phenylethanolamine N-methyltransferase; PPGL = pheochromocytoma and paraganglioma; RET = rearranged during transfection; SDH = succinate dehydrogenase; SDHAF2 = succinate dehydrogenase complex assembly factor 2; TCA = tricarboxylic acid; TH = tyrosine hydroxylase; TMEM127 = transmembrane protein 127; VHL = von Hippel-Lindau.
|
28332883 |
2017 |
|
Pheochromocytoma
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
3-MT = 3-methoxytyramine; EPAS1 = endothelial pas domain protein 1; FH = fumarate hydratase; HIF2A = hypoxia inducible factor type 2A; MEN2 = multiple endocrine neoplasia type 2; NF1 = neurofibromatosis type 1; PNMT = phenylethanolamine N-methyltransferase; PPGL = pheochromocytoma and paraganglioma; RET = rearranged during transfection; SDH = succinate dehydrogenase; SDHAF2 = succinate dehydrogenase complex assembly factor 2; TCA = tricarboxylic acid; TH = tyrosine hydroxylase; TMEM127 = transmembrane protein 127; VHL = von Hippel-Lindau.
|
28332883 |
2017 |
|
Adrenal Gland Pheochromocytoma
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
3-MT = 3-methoxytyramine; EPAS1 = endothelial pas domain protein 1; FH = fumarate hydratase; HIF2A = hypoxia inducible factor type 2A; MEN2 = multiple endocrine neoplasia type 2; NF1 = neurofibromatosis type 1; PNMT = phenylethanolamine N-methyltransferase; PPGL = pheochromocytoma and paraganglioma; RET = rearranged during transfection; SDH = succinate dehydrogenase; SDHAF2 = succinate dehydrogenase complex assembly factor 2; TCA = tricarboxylic acid; TH = tyrosine hydroxylase; TMEM127 = transmembrane protein 127; VHL = von Hippel-Lindau.
|
28332883 |
2017 |
|
Neoplasms
|
0.100 |
AlteredExpression
|
group |
BEFREE |
Tumor tissues derived from J cells exhibited high expression levels of HIF-2α and EGFR compared to the slow developing and small K cell derived tumors.
|
22768190 |
2012 |
|
Neoplasms
|
0.100 |
AlteredExpression
|
group |
BEFREE |
Tumor hypoxia induces nuclear paraspeckle formation through HIF-2α dependent transcriptional activation of NEAT1 leading to cancer cell survival.
|
25417700 |
2015 |
|
Erythrocytosis familial, 1
|
0.070 |
Biomarker
|
disease |
BEFREE |
Hereditary erythrocytosis is associated with high oxygen affinity hemoglobin variants (HOAs), 2,3-bisphosphoglycerate deficiency and abnormalities in EPOR and the oxygen-sensing pathway proteins PHD, HIF2α, and VHL.
|
29790589 |
2018 |
|
Multiple Chronic Conditions
|
0.010 |
Biomarker
|
disease |
BEFREE |
Multi-Omics Analysis Reveals a HIF Network and Hub Gene EPAS1 Associated with Lung Adenocarcinoma.
|
29859855 |
2018 |
|
Neoplasms
|
0.100 |
Biomarker
|
group |
BEFREE |
Tumor infiltrating mast cells determine oncogenic HIF-2α-conferred immune evasion in clear cell renal cell carcinoma.
|
30758643 |
2019 |
|
Caffeine related disorders
|
0.010 |
Biomarker
|
group |
BEFREE |
Caffeine and hyperoxia in itself upregulate HIF-2α and vascular endothelial growth factor gene expression.
|
31362742 |
2019 |
|
Renal Cell Carcinoma
|
0.700 |
Biomarker
|
disease |
BEFREE |
EPAS1 was detected in all of the RCC cell lines examined.
|
11301389 |
2001 |
|
Conventional (Clear Cell) Renal Cell Carcinoma
|
0.400 |
Biomarker
|
disease |
BEFREE |
EPAS1 was detected in all of the RCC cell lines examined.
|
11301389 |
2001 |
|
Neuroblastoma
|
0.100 |
Biomarker
|
disease |
BEFREE |
HIF2 alpha reduces growth rate but promotes angiogenesis in a mouse model of neuroblastoma.
|
17655754 |
2007 |
|
Central neuroblastoma
|
0.100 |
Biomarker
|
disease |
BEFREE |
HIF2 alpha reduces growth rate but promotes angiogenesis in a mouse model of neuroblastoma.
|
17655754 |
2007 |
|
Childhood Neuroblastoma
|
0.100 |
Biomarker
|
disease |
BEFREE |
HIF2 alpha reduces growth rate but promotes angiogenesis in a mouse model of neuroblastoma.
|
17655754 |
2007 |
|
Degenerative polyarthritis
|
0.100 |
Biomarker
|
disease |
BEFREE |
Epas1-heterozygous deficient mice showed resistance to osteoarthritis development, and a functional single nucleotide polymorphism (SNP) in the human EPAS1 gene was associated with knee osteoarthritis in a Japanese population.
|
20495570 |
2010 |
|
Osteoarthritis, Knee
|
0.030 |
GeneticVariation
|
disease |
BEFREE |
Epas1-heterozygous deficient mice showed resistance to osteoarthritis development, and a functional single nucleotide polymorphism (SNP) in the human EPAS1 gene was associated with knee osteoarthritis in a Japanese population.
|
20495570 |
2010 |