MCID: ACT105
MIFTS: 54

Acute Mountain Sickness malady

Rare diseases category

Aliases & Classifications for Acute Mountain Sickness

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Sources:
42NIH Rare Diseases, 48Orphanet, 61UMLS, 26ICD10 via Orphanet
See all sources

Aliases & Descriptions for Acute Mountain Sickness:

Name: Acute Mountain Sickness 42 61
High Altitude Pulmonary Edema 42 48 61
High Altitude Cerebral Edema 42 61
Altitude Sickness 42 61
Lead Intoxication 42
 
Mountain Sickness 42
Altitude Anoxia 42
Lead Poisoning 42
Saturnism 42


Classifications:



Characteristics (Orphanet epidemiological data):

48
high altitude pulmonary edema:
Prevalence: 1-9/1000000 (Europe)


External Ids:

Orphanet48 330012
ICD10 via Orphanet26 J81

Summaries for Acute Mountain Sickness

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Wikipedia:64 Altitude sickness?also known as acute mountain sickness (AMS), altitude illness, hypobaropathy, \"the... more...

MalaCards based summary: Acute Mountain Sickness, also known as high altitude pulmonary edema, is related to cor pulmonale and obesity. An important gene associated with Acute Mountain Sickness is BDKRB2 (bradykinin receptor B2), and among its related pathways are Effects of nitric oxide and Hypoxic and oxygen homeostasis regulation of HIF-1-alpha. The drugs acetazolamide and acetazolamide sodium and the compounds nebivolol and atenolol have been mentioned in the context of this disorder. Affiliated tissues include endothelial, brain and heart, and related mouse phenotypes are adipose tissue and digestive/alimentary.

Related Diseases for Acute Mountain Sickness

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Diseases related to Acute Mountain Sickness via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 182)
idRelated DiseaseScoreTop Affiliating Genes
1cor pulmonale30.7EDN1, AGTR1
2obesity30.5HIF1A, FLT1, ADRB2, CCK, NOS3
3polycythemia30.3VHL, HIF1A
4kidney disease30.2NOS3, AGTR1, VEGFA
5pulmonary hypertension30.1HIF1A, EDN1, NOS3, FLT1
6hypoxia11.0
7cerebritis11.0
8blindness10.7
9headache10.7
10endotheliitis10.7
11pulmonary edema10.5
12pericardial effusion10.5PIK3C2A
13coats disease10.5ENO2
14subependymal giant cell astrocytoma10.5ENO2
15ataxia10.5
16acute chest syndrome10.5NOS3
17pre-eclampsia10.4FLT1
18alveolar soft-part sarcoma10.4ENO2, MB
19hepatorenal syndrome10.4EDN1
20oligohydramnios10.4ACE
21granular cell tumor10.4ENO2, MB
22creatine phosphokinase, elevated serum10.4PIK3C2A, MB
23intracranial hypertension10.4
24retinitis10.4
25gas gangrene10.4PIK3C2A, MB
26rhabdomyosarcoma 2, alveolar10.4ENO2, MB
27intermediate coronary syndrome10.4MB, PIK3C2A
28anuria10.4MB, ACE
29spinocerebellar ataxia10.4ENO2, MB
30renal tubular dysgenesis10.4ACE, AGTR1
31renovascular hypertension10.3AGTR1, ACE
32nephrosclerosis10.3ACE, AGTR1
33diabetic macular edema10.3VEGFA
34medullary thyroid carcinoma, familial10.3CCK, VHL, ENO2
35raynaud disease10.3EDN1, AGTR1
36glucagonoma10.3ENO2, CCK
37malignant mixed mullerian tumor10.3MB, ENO2
38hypertensive heart disease10.3AGTR1, ACE
39prinzmetal's variant angina10.3NOS3, EDN1
40systemic lupus erythematosus10.3
41bronchopulmonary dysplasia10.3
42adie syndrome10.3
43patent foramen ovale10.3
44influenza10.3
45lupus erythematosus10.3
46pulmonary edema of mountaineers10.3
47diffuse alveolar hemorrhage10.3
48pulmonary artery hypoplasia10.3
49coronary artery vasospasm10.3EDN1, NOS3
50neuroleptic malignant syndrome10.3MB, PIK3C2A

Graphical network of the top 20 diseases related to Acute Mountain Sickness:



Diseases related to acute mountain sickness

Symptoms for Acute Mountain Sickness

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Drugs & Therapeutics for Acute Mountain Sickness

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Drug clinical trials:

Search ClinicalTrials for Acute Mountain Sickness

Search NIH Clinical Center for Acute Mountain Sickness

Inferred drug relations via UMLS61/NDF-RT40:

Genetic Tests for Acute Mountain Sickness

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Anatomical Context for Acute Mountain Sickness

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MalaCards organs/tissues related to Acute Mountain Sickness:

31
Endothelial, Brain, Heart, Lung, Testes, Pituitary, Skeletal muscle, Kidney, Neutrophil

Animal Models for Acute Mountain Sickness or affiliated genes

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MGI Mouse Phenotypes related to Acute Mountain Sickness:

35 (show all 21)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053758.9ADRB2, BDKRB2, NOS3, ACE, PIK3C2A
2MP:00053818.3BDKRB2, NOS3, HIF1A, VHL, EDN1, VEGFA
3MP:00053708.2HIF1A, ACE, VHL, NOS3, VEGFA
4MP:00053908.2HIF1A, VHL, EDN1, NOS3, BDKRB2, VEGFA
5MP:00053808.1MB, VHL, HIF1A, VEGFA, EDN1, FLT1
6MP:00053888.0VEGFA, HIF1A, ENO2, NOS3, MB
7MP:00028738.0FLT1, NOS3, HIF1A, VEGFA, BDKRB2, EDN1
8MP:00053827.8ENO2, HIF1A, VHL, EDN1, VEGFA
9MP:00053697.8EDN1, MB, NOS3, VHL, FLT1, HIF1A
10MP:00053897.7HSPA1B, HSPA1A, ACE, VHL, NOS3, VEGFA
11MP:00053797.7CCK, BDKRB2, HIF1A, VHL, ACE, VEGFA
12MP:00053867.2VEGFA, FLT1, ADRB2, ACE, NOS3, HIF1A
13MP:00053677.1BDKRB2, HIF1A, EDN1, PIK3C2A, VEGFA, HSPA1B
14MP:00053977.1ACE, MB, NOS3, FLT1, HIF1A, VHL
15MP:00053876.8HSPA1B, AGTR1, PIK3C2A, BDKRB2, NOS3, VHL
16MP:00036316.6EDN1, FLT1, VEGFA, HSPA1B, HSPA1A, HIF1A
17MP:00107686.4HIF1A, VHL, EDN1, PIK3C2A, VEGFA, HSPA1B
18MP:00053786.3MB, NOS3, ACE, ADRB2, FLT1, HIF1A
19MP:00053856.2BDKRB2, NOS3, MB, HSPA1A, VHL, ACE
20MP:00053846.0VEGFA, HSPA1B, HSPA1A, HIF1A, FLT1, ADRB2
21MP:00053765.4BDKRB2, AGTR1, HSPA1B, EDN1, VEGFA, PIK3C2A

Publications for Acute Mountain Sickness

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Articles related to Acute Mountain Sickness:

(show top 50)    (show all 503)
idTitleAuthorsYear
1
Rating of perceived exertion and acute mountain sickness during a high-altitude trek. (25479264)
2014
2
The effect of hypoxemia and exercise on acute mountain sickness symptoms. (23154995)
2013
3
Rhodiola crenulata extract for prevention of acute mountain sickness: a randomized, double-blind, placebo-controlled, crossover trial. (24176010)
2013
4
Associations between vascular endothelial growth factor gene polymorphisms and susceptibility to acute mountain sickness. (23321170)
2012
5
Acute mountain sickness without headache at low altitude. (23323193)
2012
6
Acute mountain sickness impact among travelers to Cusco, Peru. (22776382)
2012
7
Changes in cardiac autonomic activity during a passive 8 hour acute exposure to 5a88500 m normobaric hypoxia are not related to the development of acute mountain sickness. (22290324)
2012
8
Spironolactone does not prevent acute mountain sickness: a prospective, double-blind, randomized, placebo-controlled trial by SPACE Trial Group (spironolactone and acetazolamide trial in the prevention of acute mountain sickness group). (21377114)
2011
9
Sea-level assessment of dynamic cerebral autoregulation predicts susceptibility to acute mountain sickness at high altitude. (21960569)
2011
10
The prevalence of and risk factors for acute mountain sickness in the Eastern and Western Alps. (21190503)
2010
11
Impaired cerebral autoregulation in acute mountain sickness: incidental yet adaptive? (20814008)
2010
12
Acute mountain sickness: pathophysiology, prevention, and treatment. (20417340)
2010
13
Alternations of heart rate variability at lower altitude in the predication of trekkers with acute mountain sickness at high altitude. (20051736)
2010
14
Genotype at the missense G894T polymorphism (Glu298Asp) in the NOS3 gene is associated with susceptibility to acute mountain sickness. (19775216)
2009
15
Prevalence of acute mountain sickness among Finnish trekkers on Mount Kilimanjaro, Tanzania: an observational study. (19115914)
2008
16
Prevention of acute mountain sickness in Nepali porters: a controlled trial. (17447720)
2007
17
Acute mountain sickness with reversible vasospasm. (17617424)
2007
18
Acute mountain sickness: medical problems associated with acute and subacute exposure to hypobaric hypoxia. (17099095)
2006
19
Variables contributing to acute mountain sickness on the summit of Mt Whitney. (17219785)
2006
20
Acetazolamide 125 mg BD is not significantly different from 375 mg BD in the prevention of acute mountain sickness: the prophylactic acetazolamide dosage comparison for efficacy (PACE) trial. (16544963)
2006
21
New epilepsy seizure at high altitude without signs of acute mountain sickness or high altitude cerebral edema. (16544970)
2006
22
Effect of magnesium, high altitude and acute mountain sickness on blood flow velocity in the middle cerebral artery. (14572304)
2004
23
Pathophysiology of acute mountain sickness (AMS). (15136783)
2004
24
Hypoxic ventilatory response, ventilation, gas exchange, and fluid balance in acute mountain sickness. (12631422)
2002
25
Does theophylline really improve acute mountain sickness? (11405540)
2001
26
Arterial oxygen saturation for prediction of acute mountain sickness. (9856544)
1998
27
Gammow bag for acute mountain sickness. (9635981)
1998
28
Seizure and hemiparesis at high-altitude outside the setting of acute mountain sickness. (11990167)
1997
29
The illness of ascent: acute mountain sickness. (9429378)
1997
30
How can acute mountain sickness be quantified at moderate altitude? (8683517)
1996
31
Simulated descent v dexamethasone in treatment of acute mountain sickness: a randomised trial. (7767194)
1995
32
Effects of acetazolamide on overnight oxygenation and acute mountain sickness in patients with asthma. (8491304)
1993
33
Acute mountain sickness in children at 2835 meters. (8427234)
1993
34
Pressurization and acute mountain sickness. (8240197)
1993
35
Acetazolamide in the treatment of acute mountain sickness: clinical efficacy and effect on gas exchange. (1739236)
1992
36
Acute mountain sickness susceptibility, fitness and hypoxic ventilatory response. (1783072)
1991
37
Cognitive changes at high altitude in healthy climbers and in climbers developing acute mountain sickness. (2031628)
1991
38
Severe acute mountain sickness. (2133049)
1990
39
Incidence of acute mountain sickness at intermediate altitudes. (2724500)
1989
40
Acute mountain sickness and acetazolamide. (3399193)
1988
41
Effect of carbon dioxide in acute mountain sickness: a rediscovery. (2901515)
1988
42
Effect of dexamethasone on symptoms of acute mountain sickness at Pikes Peak, Colorado (4,300 m). (3619842)
1987
43
Effect of spironolactone on acute mountain sickness. (3718378)
1986
44
Acute mountain sickness, antacids, and ventilation during rapid, active ascent of Mount Rainier. (6347173)
1983
45
Acetazolamide for acute mountain sickness. (6653952)
1983
46
Plasma volume, body weight, and acute mountain sickness. (6131227)
1983
47
Acute mountain sickness and the edemas of high altitude: a common pathogenesis? (7323495)
1981
48
Acute mountain sickness. (64667)
1977
49
Acute mountain sickness. (5782719)
1969
50
Effect of acetazolamide on acute mountain sickness. (4877992)
1968

Variations for Acute Mountain Sickness

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Expression for genes affiliated with Acute Mountain Sickness

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Search GEO for disease gene expression data for Acute Mountain Sickness.

Pathways for genes affiliated with Acute Mountain Sickness

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Pathways related to Acute Mountain Sickness according to GeneCards Suite gene sharing:

(show all 29)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
Quercetin and Nf-kB/ AP-1 induced cell apoptosis36
9.9MB, NOS3
29.8VHL, HIF1A
39.4FLT1, VEGFA
4
Show member pathways
9.4FLT1, VEGFA
59.4BDKRB2, HSPA1A, HSPA1B
69.4NOS3, BDKRB2, ADRB2, AGTR1
7
Show member pathways
9.4AGTR1, CCK, EDN1, BDKRB2
8
Show member pathways
9.3NOS3, HSPA1B, HSPA1A
9
Show member pathways
9.3BDKRB2, ACE, AGTR1, NOS3
10
Show member pathways
9.2NOS3, FLT1, PIK3C2A
11
Show member pathways
9.2FLT1, NOS3, PIK3C2A
129.2FLT1, VEGFA, VHL
13
Show member pathways
9.1VHL, HIF1A, VEGFA
149.1HIF1A, VEGFA, VHL
15
Show member pathways
9.1ADRB2, EDN1, AGTR1, BDKRB2, CCK
169.0NOS3, VHL, HIF1A, FLT1
17
Show member pathways
9.0EDN1, VEGFA, HIF1A
189.0EDN1, VEGFA, HIF1A
19
Show member pathways
9.0ACE, FLT1, AGTR1, HIF1A
209.0ADRB2, HSPA1A, HSPA1B, FLT1
21
Show member pathways
8.9NOS3, VEGFA, FLT1, CCK
22
Show member pathways
Angiogenesis36
8.7HIF1A, FLT1, VEGFA, NOS3
23
Show member pathways
8.6VEGFA, NOS3, FLT1, PIK3C2A
24
Show member pathways
VEGFR1 specific signals36
8.4VEGFA, FLT1, VHL, HIF1A, NOS3
258.2HIF1A, NOS3, EDN1, VHL, HSPA1B, HSPA1A
26
Show member pathways
Cytoskeleton remodeling FAK signaling59
Development Endothelin 1 EDNRA transactivation of EGFR59
8.1NOS3, HSPA1A, EDN1, VEGFA, HSPA1B, BDKRB2
27
Show member pathways
7.9NOS3, EDN1, VEGFA, HSPA1B, FLT1, HSPA1A
28
Show member pathways
7.6HIF1A, VEGFA, FLT1, ADRB2, CCK, BDKRB2
297.2VEGFA, ENO2, VHL, NOS3, FLT1, HIF1A

Compounds for genes affiliated with Acute Mountain Sickness

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Compounds related to Acute Mountain Sickness according to GeneCards Suite gene sharing:

(show top 50)    (show all 215)
idCompoundScoreTop Affiliating Genes
1nebivolol44 1110.6ACE, ADRB2, EDN1, NOS3
2atenolol44 50 28 24 1113.5AGTR1, ACE, ADRB2, EDN1
3lacidipine449.5EDN1, ACE, AGTR1
4diltiazem44 28 50 1112.5AGTR1, CCK, EDN1, ACE
5enalapril44 50 1111.4EDN1, ACE, ADRB2, AGTR1
6lisinopril44 50 24 1112.4VEGFA, BDKRB2, AGTR1, ACE
7captopril44 60 50 28 1113.3BDKRB2, ACE, EDN1, AGTR1
8perindopril44 50 1111.2VEGFA, NOS3, ACE, AGTR1
9fluvastatin44 50 28 1112.1AGTR1, MB, ACE, NOS3, PIK3C2A
108-isoprostane449.1NOS3, HSPA1A, EDN1, AGTR1
11sunitinib44 50 1111.0HIF1A, VHL, VEGFA, FLT1
12l-nmma449.0HIF1A, CCK, NOS3, BDKRB2, AGTR1, EDN1
13sildenafil28 44 50 24 1113.0NOS3, ACE, EDN1, VEGFA
14ang ii448.9AGTR1, EDN1, VEGFA, ACE, NOS3
15halothane44 50 28 1111.9MB, ADRB2, HSPA1A, PIK3C2A, HIF1A
16radicicol44 60 1110.7HIF1A, NOS3, HSPA1A, VEGFA
17thapsigargin44 609.7BDKRB2, NOS3, HSPA1A, EDN1, CCK, HIF1A
18carvedilol44 50 28 1111.7NOS3, AGTR1, VEGFA, ACE, ADRB2, EDN1
19candesartan44 50 28 1111.7BDKRB2, HIF1A, ACE, NOS3, VEGFA, AGTR1
20nitroglycerin44 119.6EDN1, AGTR1, PIK3C2A, HIF1A, NOS3, ACE
21geldanamycin44 50 60 1111.6VHL, VEGFA, HSPA1A, HIF1A, NOS3
22epinephrine44 24 1110.5AGTR1, ADRB2, HSPA1A, MB, PIK3C2A, EDN1
23atorvastatin44 50 28 24 1112.5PIK3C2A, ACE, NOS3, EDN1, VEGFA
24pge2448.4MB, EDN1, VEGFA, BDKRB2, ADRB2, CCK
25sodium nitroprusside448.3PIK3C2A, EDN1, BDKRB2, HIF1A, AGTR1, MB
26genistein44 28 60 1 24 1113.1AGTR1, BDKRB2, NOS3, FLT1, HIF1A, EDN1
27phosphoinositide448.1ADRB2, BDKRB2, AGTR1, PIK3C2A, EDN1, HIF1A
28actinomycin d448.0VEGFA, AGTR1, VHL, NOS3, HIF1A, HSPA1A
29prostacyclin448.0ACE, NOS3, AGTR1, FLT1, VEGFA, PIK3C2A
30phosphatidylinositol448.0EDN1, HIF1A, FLT1, VHL, BDKRB2, AGTR1
31sb 20358044 608.9EDN1, AGTR1, NOS3, FLT1, HIF1A, HSPA1A
32glutamate447.9CCK, PIK3C2A, ADRB2, NOS3, MB, ENO2
33potassium44 24 119.8AGTR1, HSPA1A, ENO2, VHL, ACE, ADRB2
34pd 98,059447.8HSPA1A, ENO2, BDKRB2, NOS3, EDN1, HIF1A
35doxorubicin44 50 119.8NOS3, HIF1A, FLT1, VEGFA, PIK3C2A, MB
36sodium44 248.7AGTR1, ENO2, BDKRB2, ACE, HSPA1A, PIK3C2A
37acetylcholine44 50 28 24 1111.5ADRB2, EDN1, PIK3C2A, CCK, ACE, NOS3
38arginine447.5HSPA1A, PIK3C2A, EDN1, HIF1A, MB, ADRB2
39dexamethasone44 50 28 1110.4ENO2, CCK, BDKRB2, HIF1A, HSPA1A, VEGFA
40norepinephrine44 24 119.3ACE, MB, PIK3C2A, CCK, ADRB2, EDN1
41superoxide44 248.3PIK3C2A, HSPA1A, HIF1A, FLT1, AGTR1, ADRB2
42cisplatin44 50 60 1110.0PIK3C2A, VEGFA, HSPA1A, HIF1A, FLT1, MB
43creatinine446.9PIK3C2A, ENO2, ACE, AGTR1, BDKRB2, EDN1
44estrogen446.9HSPA1A, ENO2, HIF1A, FLT1, ADRB2, VHL
45glucose446.8VHL, ADRB2, CCK, HIF1A, HSPA1A, PIK3C2A
46nitric oxide44 24 118.6EDN1, ENO2, AGTR1, BDKRB2, NOS3, VHL
47calcium44 50 24 119.5EDN1, ENO2, BDKRB2, AGTR1, NOS3, VHL
48oxygen44 247.4PIK3C2A, ENO2, MB, NOS3, VHL, ADRB2
49tyrosine446.3HIF1A, PIK3C2A, ENO2, FLT1, ADRB2, CCK
50vegf446.1EDN1, PIK3C2A, VEGFA, VHL, NOS3, ADRB2

GO Terms for genes affiliated with Acute Mountain Sickness

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Cellular components related to Acute Mountain Sickness according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1endosomeGO:00057689.1BDKRB2, ACE, ADRB2, FLT1
2extracellular spaceGO:00056157.4EDN1, VEGFA, FLT1, CCK, ACE, ENO2
3plasma membraneGO:00058867.3FLT1, ADRB2, ACE, NOS3, ENO2, BDKRB2

Biological processes related to Acute Mountain Sickness according to GeneCards Suite gene sharing:

(show all 30)
idNameGO IDScoreTop Affiliating Genes
1regulation of systemic arterial blood pressure by renin-angiotensinGO:000308110.2AGTR1, ACE
2regulation of sodium ion transportGO:000202810.2ADRB2, NOS3
3arachidonic acid secretionGO:005048210.2BDKRB2, ACE
4regulation of systemic arterial blood pressure by endothelinGO:000310010.1EDN1, NOS3
5positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling paGO:005148210.1EDN1, AGTR1
6vasoconstrictionGO:004231010.1BDKRB2, EDN1
7positive regulation of chemokine-mediated signaling pathwayGO:007010110.0EDN1, HIF1A
8brown fat cell differentiationGO:005087310.0ADRB2, MB
9regulation of vasodilationGO:004231210.0AGTR1, ADRB2, ACE
10positive regulation of receptor biosynthetic processGO:001087010.0EDN1, HIF1A
11positive regulation of cytosolic calcium ion concentrationGO:00072049.9AGTR1, BDKRB2, EDN1
12regulation of sensory perception of painGO:00519309.9CCK, EDN1
13positive regulation of transcription from RNA polymerase II promoter in response to hypoxiaGO:00614199.7VEGFA, HIF1A
14cell surface receptor signaling pathwayGO:00071669.7ADRB2, EDN1, BDKRB2
15dopaminergic neuron differentiationGO:00715429.7VEGFA, HIF1A
16regulation of vasoconstrictionGO:00192299.6AGTR1, BDKRB2, ACE, EDN1
17positive regulation of erythrocyte differentiationGO:00456489.6HIF1A, HSPA1B
18cellular response to vascular endothelial growth factor stimulusGO:00359249.6VEGFA, FLT1
19positive regulation of neuroblast proliferationGO:00020529.5HIF1A, VEGFA
20kidney developmentGO:00018229.5AGTR1, ACE, VEGFA
21regulation of transcription from RNA polymerase II promoter in response to hypoxiaGO:00614189.5VEGFA, VHL, HIF1A
22cellular response to hypoxiaGO:00714569.5VEGFA, HIF1A, VHL
23patterning of blood vesselsGO:00015699.4EDN1, VEGFA, FLT1
24positive regulation of MAP kinase activityGO:00434069.4EDN1, VEGFA, FLT1
25positive regulation of vascular endothelial growth factor receptor signaling pathwayGO:00309499.4FLT1, HIF1A, VEGFA
26positive regulation of cell migrationGO:00303359.3FLT1, VEGFA, EDN1
27response to hypoxiaGO:00016669.2VEGFA, HIF1A, EDN1, MB
28vascular endothelial growth factor receptor signaling pathwayGO:00480109.1VEGFA, FLT1
29positive regulation of angiogenesisGO:00457669.0VEGFA, HIF1A, FLT1, NOS3
30positive regulation of cell proliferationGO:00082849.0FLT1, VEGFA, EDN1, CCK

Molecular functions related to Acute Mountain Sickness according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1bradykinin receptor bindingGO:00317119.5ACE, AGTR1
2protein heterodimerization activityGO:00469828.9AGTR1, BDKRB2, HIF1A, VEGFA
3protein bindingGO:00055156.3AGTR1, EDN1, VEGFA, HSPA1B, HIF1A, FLT1

Sources for Acute Mountain Sickness

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2CDC
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet