Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 117581
Gene Symbol: TWIST2
TWIST2
0.730 GeneticVariation disease BEFREE Ablepharon macrostomia syndrome (AMS) is a rare congenital malformation disorder caused by the autosomal-dominant mutations in gene TWIST2. 31462237 2019
Entrez Id: 117581
Gene Symbol: TWIST2
TWIST2
0.730 GeneticVariation disease BEFREE Barber-Say syndrome (BSS) and Ablepharon-Macrostomia syndrome (AMS) are congenital malformation syndromes caused by heterozygous mutations in TWIST2. 27196381 2016
Entrez Id: 117581
Gene Symbol: TWIST2
TWIST2
0.730 GeneticVariation disease BEFREE Our results suggest that autosomal-dominant TWIST2 mutations cause AMS or BSS by inducing protean effects on the transcription factor's DNA binding. 26119818 2015
Entrez Id: 117581
Gene Symbol: TWIST2
TWIST2
0.730 GermlineCausalMutation disease ORPHANET Our results suggest that autosomal-dominant TWIST2 mutations cause AMS or BSS by inducing protean effects on the transcription factor's DNA binding. 26119818 2015
Entrez Id: 117581
Gene Symbol: TWIST2
TWIST2
0.730 Biomarker disease GENOMICS_ENGLAND Our results suggest that autosomal-dominant TWIST2 mutations cause AMS or BSS by inducing protean effects on the transcription factor's DNA binding. 26119818 2015
Entrez Id: 117581
Gene Symbol: TWIST2
TWIST2
0.730 GeneticVariation disease UNIPROT Our results suggest that autosomal-dominant TWIST2 mutations cause AMS or BSS by inducing protean effects on the transcription factor's DNA binding. 26119818 2015
Entrez Id: 117581
Gene Symbol: TWIST2
TWIST2
0.730 Biomarker disease GENOMICS_ENGLAND CONGENITAL ECTODERMAL DYSPLASIA OF THE FACE. 14069095 1963
Entrez Id: 117581
Gene Symbol: TWIST2
TWIST2
0.730 Biomarker disease CTD_human
Entrez Id: 117581
Gene Symbol: TWIST2
TWIST2
0.730 CausalMutation disease CLINVAR
Entrez Id: 117581
Gene Symbol: TWIST2
TWIST2
0.730 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 3091
Gene Symbol: HIF1A
HIF1A
0.050 Biomarker disease BEFREE Though increased HIF-1α expression is associated with adaptation and protection from AMS development in the early stage of hypoxia, a downstream effector of HIF-1α, VEGF, can induce overzealous endothelial barrier dysfunction, increase vascular permeability, and ultimately result in HAPE and high-altitude cerebral edema. 31461385 2019
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 Biomarker disease BEFREE Two low oxygen sensors, Egl nine homolog 1 (EGLN1) and hypoxia-inducible factor 1-α inhibitor (HIF-1AN), play pivotal roles in the regulation of HIF-1α, and high altitude adaption may be involved in the pathology of acute mountain sickness (AMS). 25431923 2014
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
Entrez Id: 3091
Gene Symbol: HIF1A
HIF1A
0.050 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: 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: 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: 7422
Gene Symbol: VEGFA
VEGFA
0.030 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: 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: 29072
Gene Symbol: SETD2
SETD2
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: 29072
Gene Symbol: SETD2
SETD2
0.030 Biomarker disease BEFREE Independent predictors of significant state anxiety included female sex, lower age, higher heart rate and increasing LLS and AMS-C scores (p<0.0001). 29927953 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: 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