Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1636
Gene Symbol: ACE
ACE
0.040 GeneticVariation disease BEFREE We conclude that I/D-ACE gene polymorphism has no important effect on susceptibility to AMS or HAPE. 12471298 2002
Entrez Id: 1636
Gene Symbol: ACE
ACE
0.040 GeneticVariation disease BEFREE Our results revealed no significant differences in risk for AMS between carriers of ACE deletion and insertion polymorphism alleles. 23270441 2012
Entrez Id: 1636
Gene Symbol: ACE
ACE
0.040 GeneticVariation disease BEFREE ACE (I/D) was significantly associated with HR in CMS patients while the AGT M235T was significantly associated with SaO(2) and BPs/d in AMS patients. 20570668 2010
Entrez Id: 1636
Gene Symbol: ACE
ACE
0.040 GeneticVariation disease BEFREE Thus, ACE I/D genotype is associated with successful high altitude ascent in this prospective study-an association not explicable by genotype-dependence of AMS onset or severity. 15578201 2005
Entrez Id: 154
Gene Symbol: ADRB2
ADRB2
0.010 GeneticVariation disease BEFREE We found no association between any alleles at the seven highly informative polymorphic loci (tagSNPs) that we assayed and AMS status, suggesting that variants in, or near, the beta-2 adrenergic receptor gene do not contribute to AMS susceptibility in this population. 17824821 2007
Entrez Id: 183
Gene Symbol: AGT
AGT
0.010 GeneticVariation disease BEFREE ACE (I/D) was significantly associated with HR in CMS patients while the AGT M235T was significantly associated with SaO(2) and BPs/d in AMS patients. 20570668 2010
Entrez Id: 623
Gene Symbol: BDKRB1
BDKRB1
0.010 GeneticVariation disease BEFREE We tested this by looking for associations between two functional polymorphisms (the in/del polymorphism +9/-9 [rs5810761] and the single-nucleotide polymorphism C--58T [rs1799722]) of BDKRB2 (the gene encoding the bradykinin receptor B2) and susceptibility to AMS in an altitude-exposed Nepalese population. 20511677 2010
Entrez Id: 624
Gene Symbol: BDKRB2
BDKRB2
0.010 GeneticVariation disease BEFREE We tested this by looking for associations between two functional polymorphisms (the in/del polymorphism +9/-9 [rs5810761] and the single-nucleotide polymorphism C--58T [rs1799722]) of BDKRB2 (the gene encoding the bradykinin receptor B2) and susceptibility to AMS in an altitude-exposed Nepalese population. 20511677 2010
Entrez Id: 6355
Gene Symbol: CCL8
CCL8
0.010 AlteredExpression disease BEFREE IL10 was downregulated and both IF17F and CCL8 were upregulated in AMS individuals. 28611780 2017
Entrez Id: 260431
Gene Symbol: COPD
COPD
0.010 Biomarker disease BEFREE This study evaluated whether dexamethasone, a drug used for the prevention of AMS in healthy individuals, would prevent AMS/ARAHE in patients with COPD. 29909285 2018
Entrez Id: 54583
Gene Symbol: EGLN1
EGLN1
0.030 GeneticVariation disease BEFREE The EGLN1 (rs480902) SNP had a significant correlation with hematocrit (HCT), HR and SaO(2) in AMS patients. 22595196 2012
Entrez Id: 54583
Gene Symbol: EGLN1
EGLN1
0.030 Biomarker disease BEFREE In this paper, the therapeutic mechanism of R rosea for AMS was investigated by analysis of the relationship between R rosea compositions and hypoxia-inducible factor 1 (HIF-1) degradation pathway.System biology and network biology, computational approaches were used to explore the molecular mechanisms of traditional Chinese medicine (TCM).Our results showed that chemical compositions of R rosea could inhibit the targets of HIF-1 degradation pathway in multi-composition/multi-target ways.We conclude that the 18 components with more than 2 targets and 5 targets (arrest-defective-1 [ARD1], forkhead transcription factor [FOXO4], osteosarcoma-9 [OS-9], prolyl hydroxylase 2 [PHD2], human double minute 2 [Hdm2]) deserve to be noticed, and PHD2, receptor for activated C-kinase1 (RACK1) and spermidine/spermine-N1-acetyltransferase-1 (SSAT1) may be the targets of active ingredients of rhodionin, rhodiosin, and rhodiolatuntoside, respectively. 30278484 2018
Entrez Id: 54583
Gene Symbol: EGLN1
EGLN1
0.030 Biomarker disease BEFREE To assess the association between EGLN1 and HIF-1AN SNPs and AMS in a Han Chinese population, a case-control study was performed including 190 patients and 190 controls. 25431923 2014
Entrez Id: 2034
Gene Symbol: EPAS1
EPAS1
0.020 GeneticVariation disease BEFREE Age was found to be significantly associated with the EPAS1 SNP in the CMS patients while heart rate (HR) and oxygen saturation level of hemoglobin (SaO(2)) were found to be significantly associated with the EGLN1 (rs480902) SNP in the Han patients with AMS. 22595196 2012
Entrez Id: 2034
Gene Symbol: EPAS1
EPAS1
0.020 GeneticVariation disease BEFREE The rs4953348 polymorphism of EPAS1 gene had a significant correlation with the SaO2 level and AMS, and a significant difference in the AG and GG genotype distribution between the AMS and non-AMS groups. 27982053 2016
Entrez Id: 2056
Gene Symbol: EPO
EPO
0.020 GeneticVariation disease BEFREE The aim of this study was to investigate the associations between alleles of the hypoxia-inducible factor 1A (HIF1A) C1772T polymorphism and several physiological responses to hypoxia, including the hypoxic ventilatory response (HVR), and serum erythropoietin (EPO), arterial oxygen saturation (Sao2), and acute mountain sickness (AMS) responses during 8 hours of exposure to normobaric hypoxia. 20832699 2010
Entrez Id: 2056
Gene Symbol: EPO
EPO
0.020 Biomarker disease BEFREE In addition, erythropoietin and vascular endothelial growth factor were 1.69 and 1.75 times higher, respectively, in those with AMS. 31189189 2019
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
0.010 Biomarker disease BEFREE Second, the targets of DZ were predicted using the SwissTargetPrediction and STITCH databases; the targets of AMS were also collected from the Drugbank and TTD databases. 31835126 2020
Entrez Id: 25854
Gene Symbol: FAM149A
FAM149A
0.010 Biomarker disease BEFREE In total, 270,389 single nucleotide polymorphisms (SNPs) passed quality control, and 4 SNPs (one intronic, three nonsynonymous) in the FAM149A gene were associated with AMS severity after correcting for multiple hypothesis testing (p = 1.8E-7); however, in the validation cohorts, FAM149A was not associated with the presence or severity of AMS. 26600424 2015
Entrez Id: 4303
Gene Symbol: FOXO4
FOXO4
0.010 Biomarker disease BEFREE In this paper, the therapeutic mechanism of R rosea for AMS was investigated by analysis of the relationship between R rosea compositions and hypoxia-inducible factor 1 (HIF-1) degradation pathway.System biology and network biology, computational approaches were used to explore the molecular mechanisms of traditional Chinese medicine (TCM).Our results showed that chemical compositions of R rosea could inhibit the targets of HIF-1 degradation pathway in multi-composition/multi-target ways.We conclude that the 18 components with more than 2 targets and 5 targets (arrest-defective-1 [ARD1], forkhead transcription factor [FOXO4], osteosarcoma-9 [OS-9], prolyl hydroxylase 2 [PHD2], human double minute 2 [Hdm2]) deserve to be noticed, and PHD2, receptor for activated C-kinase1 (RACK1) and spermidine/spermine-N1-acetyltransferase-1 (SSAT1) may be the targets of active ingredients of rhodionin, rhodiosin, and rhodiolatuntoside, respectively. 30278484 2018
Entrez Id: 2551
Gene Symbol: GABPA
GABPA
0.010 Biomarker disease BEFREE Drugs commonly used to treat AMS were screened with a luciferase reporter cell system for their effectiveness to activate Nrf2, as well as being tested for their ability to decrease high altitude cerebral vascular leak in vivo. 23722164 2013
Entrez Id: 2784
Gene Symbol: GNB3
GNB3
0.010 GeneticVariation disease BEFREE The ACE D and AGT 235M alleles were found to be significantly associated with AMS and CMS, respectively, while a significantly high incidence of the G-protein (GNB3) (-350)A allele was found in the AMS patients. 20570668 2010
Entrez Id: 404672
Gene Symbol: GTF2H5
GTF2H5
0.010 Biomarker disease BEFREE Second, the targets of DZ were predicted using the SwissTargetPrediction and STITCH databases; the targets of AMS were also collected from the Drugbank and TTD databases. 31835126 2020
Entrez Id: 3091
Gene Symbol: HIF1A
HIF1A
0.050 Biomarker disease BEFREE In this paper, the therapeutic mechanism of R rosea for AMS was investigated by analysis of the relationship between R rosea compositions and hypoxia-inducible factor 1 (HIF-1) degradation pathway.System biology and network biology, computational approaches were used to explore the molecular mechanisms of traditional Chinese medicine (TCM).Our results showed that chemical compositions of R rosea could inhibit the targets of HIF-1 degradation pathway in multi-composition/multi-target ways.We conclude that the 18 components with more than 2 targets and 5 targets (arrest-defective-1 [ARD1], forkhead transcription factor [FOXO4], osteosarcoma-9 [OS-9], prolyl hydroxylase 2 [PHD2], human double minute 2 [Hdm2]) deserve to be noticed, and PHD2, receptor for activated C-kinase1 (RACK1) and spermidine/spermine-N1-acetyltransferase-1 (SSAT1) may be the targets of active ingredients of rhodionin, rhodiosin, and rhodiolatuntoside, respectively. 30278484 2018
Entrez Id: 3091
Gene Symbol: HIF1A
HIF1A
0.050 GeneticVariation disease BEFREE The occurrence of acute mountain sickness (AMS), which develops in some individuals who ascend to altitudes above 2,500 m, may be associated with 4 hypoxia-related genes (HIF-1, VEGFA, HSP-70 and eNOS). 21242666 2011