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ANPAI
MCID: AST052
MIFTS: 47

Asthma, Nasal Polyps, and Aspirin Intolerance (ANPAI)

Categories: Genetic diseases, Respiratory diseases
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Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Drugs
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Aliases & Classifications for Asthma, Nasal Polyps, and Aspirin Intolerance

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MalaCards integrated aliases for Asthma, Nasal Polyps, and Aspirin Intolerance:

Name: Asthma, Nasal Polyps, and Aspirin Intolerance 57 11 28 5 43 14 38 71
Asthma and Nasal Polyps 57 73 28 12 5
Asa Triad 57 11 73
Asthma, Aspirin-Induced, Susceptibility to 57 5
Asthma with Aspirin Triad Including Nonsteroidal Anti-Inflammatory Activity and Nasal Polyps 33
Asthma, with Nasal Polyps and Aspirin Intolerance 73
Nasal Polyps Asthma and Aspirin Sensitivity 73
Aspirin-Intolerant Asthma 73
Asthma, Aspirin-Induced 57
Asthma Aspirin-Induced 73
Samter Triad 73
Anpai 73
Aia 73

Characteristics:


Inheritance:

Autosomal recessive 57

Classifications:

MalaCards categories:
Global: Genetic diseases
Anatomical: Respiratory diseases
See all MalaCards categories (disease lists)
ICD11: 33


External Ids:

Disease Ontology 11 DOID:0111579
OMIM® 57 208550
ICD11 33 1030818265
UMLS 71 C1859648
Sources

Summaries for Asthma, Nasal Polyps, and Aspirin Intolerance

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UniProtKB/Swiss-Prot: 73 A condition consisting of asthma, aspirin sensitivity and nasal polyposis. Nasal polyposis is due to chronic inflammation of the paranasal sinus mucosa, leading to protrusion of edematous polyps into the nasal cavities.

MalaCards based summary: Asthma, Nasal Polyps, and Aspirin Intolerance, also known as asthma and nasal polyps, is related to intrinsic asthma and respiratory failure. An important gene associated with Asthma, Nasal Polyps, and Aspirin Intolerance is TBX21 (T-Box Transcription Factor 21), and among its related pathways/superpathways are Beta-2 adrenergic-dependent CFTR expression and NF-kappaB Signaling. The drugs Analgesics and Antirheumatic Agents have been mentioned in the context of this disorder. Affiliated tissues include myeloid, skin and heart, and related phenotypes are asthma and nasal polyposis

Disease Ontology: 11 A respiratory system disease characterized by asthma, aspirin-induced bronchoconstriction, and nasal polyps.

More information from OMIM: 208550
Sources

Related Diseases for Asthma, Nasal Polyps, and Aspirin Intolerance

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Diseases related to Asthma, Nasal Polyps, and Aspirin Intolerance via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 62)
# Related Disease Score Top Affiliating Genes
1 intrinsic asthma 30.0 LTC4S CYSLTR1
2 respiratory failure 29.8 PTGS1 CYSLTR1 ALOX5
3 urticaria 29.4 PTGS1 LTC4S CYSLTR1 ALOX5
4 asthma 27.1 TBXA2R TBX21 PTGS1 PTGER2 LTC4S HLA-DRB1
5 allergic disease 10.4
6 proteasome-associated autoinflammatory syndrome 1 10.4
7 common cold 10.4
8 near-fatal asthma 10.2
9 rhinitis 10.2
10 chronic rhinitis 10.2
11 excessive tearing 10.1
12 prurigo nodularis 10.1
13 dermatitis, atopic 10.1
14 toxic shock syndrome 10.1
15 staphylococcal toxic shock syndrome 10.1
16 ceroid lipofuscinosis, neuronal, 5 10.1
17 allergic rhinitis 10.1
18 spastic paraplegia, intellectual disability, nystagmus, and obesity 10.1
19 allergic asthma 10.1
20 alopecia areata 10.1
21 alopecia 10.1
22 vernal conjunctivitis 10.0 CYSLTR2 CYSLTR1
23 wilson disease 10.0
24 hepatic encephalopathy 10.0
25 encephalopathy 10.0
26 aspirin allergy 10.0 PTGS1 LTC4S
27 chronic asthma 10.0 TBX21 CYSLTR1
28 prune belly syndrome 9.9
29 ige responsiveness, atopic 9.9
30 alpha-1-antitrypsin deficiency 9.9
31 hypereosinophilic syndrome 9.9
32 autoimmune disease 9.9
33 hepatocellular carcinoma 9.9
34 rheumatoid arthritis 9.9
35 hypothyroidism, congenital, nongoitrous, 2 9.9
36 inflammatory bowel disease 1 9.9
37 hypothyroidism, congenital, nongoitrous, 3 9.9
38 aortic valve disease 2 9.9
39 peripheral vascular disease 9.9
40 autoimmune vasculitis 9.9
41 urinary tract infection 9.9
42 severe covid-19 9.9
43 non-severe covid-19 9.9
44 pneumoconiosis 9.9
45 reading disorder 9.9
46 synovitis 9.9
47 arthritis 9.9
48 ulcerative colitis 9.9
49 vasculitis 9.9
50 diabetes mellitus 9.9

Graphical network of the top 20 diseases related to Asthma, Nasal Polyps, and Aspirin Intolerance:



Diseases related to Asthma, Nasal Polyps, and Aspirin Intolerance
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Symptoms & Phenotypes for Asthma, Nasal Polyps, and Aspirin Intolerance

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Human phenotypes related to Asthma, Nasal Polyps, and Aspirin Intolerance:

30
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 asthma 30 HP:0002099
2 nasal polyposis 30 HP:0100582
3 aspirin-induced asthma 30 HP:0012042
4 bronchoconstriction 30 HP:4000007

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Nose:
polyps

Immunologic:
aspirin intolerance

Pulmonary:
bronchial asthma

Clinical features from OMIM®:

208550 (Updated 08-Dec-2022)

MGI Mouse Phenotypes related to Asthma, Nasal Polyps, and Aspirin Intolerance:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.76 ALOX5 CYSLTR1 CYSLTR2 LTC4S PTGER2 PTGS1
2 immune system MP:0005387 9.61 ALOX5 COL26A1 CYSLTR1 CYSLTR2 LTC4S PTGER2
3 respiratory system MP:0005388 9.17 CYSLTR1 CYSLTR2 LTC4S PTGER2 PTGS1 TBX21
Sources

Drugs & Therapeutics for Asthma, Nasal Polyps, and Aspirin Intolerance

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Drugs for Asthma, Nasal Polyps, and Aspirin Intolerance (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 23)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Analgesics Phase 4
2 Antirheumatic Agents Phase 4
3 Fibrinolytic Agents Phase 4
4 Antipyretics Phase 4
5 Cyclooxygenase Inhibitors Phase 4
6 Anti-Inflammatory Agents, Non-Steroidal Phase 4
7 Analgesics, Non-Narcotic Phase 4
8 Anti-Inflammatory Agents Phase 4
9
Acetylsalicylic acid Approved, Vet_approved Phase 2 50-78-2 2244
10
Ifetroban Investigational Phase 2 143443-90-7 3037233
11
Prasugrel Hydrochloride Phase 2 389574-19-0
12 Platelet Aggregation Inhibitors Phase 2
13 Immunologic Factors Phase 2
14 Immunoglobulins Phase 2
15 Antibodies, Monoclonal Phase 2
16 Antibodies Phase 2
17
Benralizumab Approved, Investigational 1044511-01-4
18
Acetaminophen Approved 103-90-2 1983
19 Ophthalmic Solutions
20 Omega 3 Fatty Acid
21 Anti-Asthmatic Agents
22 Respiratory System Agents
23 Pharmaceutical Solutions

Interventional clinical trials:

(show all 15)
# Name Status NCT ID Phase Drugs
1 The Effect of Aspirin Desensitization on Patients With Aspirin-exacerbated Respiratory Diseases Completed NCT01867281 Phase 4 aspirin
2 Therapeutic Control of Aspirin-Exacerbated Respiratory Disease (Aspirin) Completed NCT01597375 Phase 2 Placebo Oral Tablet;Prasugrel Oral Tablet
3 A Phase 2 Multicenter, Double-blind, Randomized, Placebo-Controlled Trial to Evaluate Oral Ifetroban in Subjects With Symptomatic Aspirin Exacerbated Respiratory Disease (AERD) Active, not recruiting NCT03028350 Phase 2 Ifetroban Oral Capsule;Placebo Oral Capsule
4 Therapeutic Control of Aspirin-Exacerbated Respiratory Disease Active, not recruiting NCT03326063 Phase 2 Ifetroban;Placebo
5 Mechanisms of Benefit of IL4RA Inhibition in Aspirin-Exacerbated Respiratory Disease: MARINER Not yet recruiting NCT05575037 Phase 2 Dupilumab;Placebo
6 Challenge Test for Acetylsalicylic Acid Hypersensitivity Unknown status NCT01681615 Acetylsalicylate;Isotonic NaCl
7 The Effect of Intra-abdominal Pressure, Applied to the Patients Diagnosed With Diabetes Mellitus, Who Undergo Laparoscopic Surgery, on Hemodynamics Unknown status NCT03931759
8 A Pilot Study of the Effectiveness of a High Omega-3/Low Omega-6 Treatment Diet for Treating Aspirin-exacerbated Respiratory Disease Completed NCT02064738
9 Retrospective, Observational Study in Patients With Severe Eosinophilic Asthma and Nasal Polyps Treated by FASENRA® Completed NCT05180357
10 Temporomandibular Joint Complains in Patients With COVID-19 Completed NCT05077189
11 Characteristics of Patients Diagnosed With NSAID Sensitivity in Thailand Completed NCT03849625 aspirin, NSAIDs, paracetamol
12 Role of PDG2 in the Aspirin-Induced Reactions and in the Treatment of Aspirin-Exacerbated Respiratory Disease Completed NCT02824523 aspirin
13 Aggravated Airway Inflammation: Research on Biological Treatment (Mepolizumab) Recruiting NCT04823585 Mepolizumab;Placebo
14 Prospective Registry of Eosinophilia With Respiratory Manifestations With Translational Research Identifying and Characterizing Eosinophils Recruiting NCT04538937
15 Diagnosis of Aspirin Hypersensitivity in Aspirin Exacerbated Respiratory Disease Using a Safe, Low Dose Aspirin Challenge Active, not recruiting NCT01320072

Search NIH Clinical Center for Asthma, Nasal Polyps, and Aspirin Intolerance

Cochrane evidence based reviews: asthma, nasal polyps, and aspirin intolerance

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Genetic Tests for Asthma, Nasal Polyps, and Aspirin Intolerance

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Genetic tests related to Asthma, Nasal Polyps, and Aspirin Intolerance:

# Genetic test Affiliating Genes
1 Asthma, Nasal Polyps, and Aspirin Intolerance 28 PTGER2 TBX21
2 Asthma and Nasal Polyps 28
Sources

Anatomical Context for Asthma, Nasal Polyps, and Aspirin Intolerance

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Organs/tissues related to Asthma, Nasal Polyps, and Aspirin Intolerance:

MalaCards : Myeloid, Skin, Heart
Sources

Publications for Asthma, Nasal Polyps, and Aspirin Intolerance

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Articles related to Asthma, Nasal Polyps, and Aspirin Intolerance:

(show top 50) (show all 239)
# Title Authors PMID Year
1
Polymorphisms in the prostaglandin E2 receptor subtype 2 gene confer susceptibility to aspirin-intolerant asthma: a candidate gene approach. 62 57 5
15496426 2004
2
Functional promoter polymorphism in the TBX21 gene associated with aspirin-induced asthma. 57 5
15806396 2005
3
Overexpression of leukotriene C4 synthase in bronchial biopsies from patients with aspirin-intolerant asthma. 62 57
9466979 1998
4
Familial occurrence of asthma, nasal polyps and aspirin intolerance. 62 57
4682309 1973
5
Leukotriene receptors and aspirin sensitivity. 57
12421897 2002
6
Leukotriene-receptor expression on nasal mucosal inflammatory cells in aspirin-sensitive rhinosinusitis. 57
12421891 2002
7
Leukotriene C4 synthase promoter polymorphism and risk of aspirin-induced asthma. 57
9393345 1997
8
Aspirin and concomitant idiosyncrasies in adult asthmatic patients. 57
512268 1979
9
Aspirin-induced bronchial asthma in sisters. 57
5155528 1971
10
Successful and safe treatment of severe steroid depended eosinophilic asthma with mepolizumab in a woman during pregnancy. 62
36466584 2023
11
Urinary Leukotriene E4 as a Biomarker in NSAID-Exacerbated Respiratory Disease (N-ERD): a Systematic Review and Meta-analysis. 62
36374376 2022
12
Transient alopecia areata following treatment with omalizumab in a patient with asthma and nasal polyps: A potential dermatological adverse event. 62
34619008 2022
13
Biological Therapy of Severe Asthma and Nasal Polyps. 62
35743760 2022
14
Improvement in eosinophilic esophagitis when using dupilumab for other indications or compassionate use. 62
35085819 2022
15
Distinct Gene Set Enrichment Profiles in Eosinophilic and Non-Eosinophilic Chronic Rhinosinusitis with Nasal Polyps by Bulk RNA Barcoding and Sequencing. 62
35628459 2022
16
Single-nucleotide polymorphism in chronic rhinosinusitis: A systematic review. 62
34599556 2022
17
Simultaneous treatment of Samter triad and prurigo nodularis with dupilumab. 62
34778501 2021
18
Combination treatment with monoclonal antibodies: Secukinumab, benralizumab and dupilumab for the combined management of psoriasis and severe asthma. 62
34370309 2021
19
Management of chronic rhinosinusitis with nasal polyps in Samter triad by low-dose ASA desensitization or dupilumab. 62
34622875 2021
20
High PI3K/mTOR and low MAPK/JNK activity results in decreased apoptosis and autophagy in nasal polyposis. 62
32001208 2021
21
Acute heart failure: on the track of a rare disease. 62
33853814 2021
22
[Impact of reslizumab on the course of chronic rhinosinusitis in patients with eosinophilic asthma]. 62
33929151 2021
23
Development of Monoclonal Antibody-Based EIA for Tetranor-PGDM which Reflects PGD2 Production in the Body. 62
33997056 2021
24
Predictors of Disease Control After Endoscopic Sinus Surgery Plus Long-Term Local Corticosteroids in CRSwNP. 62
32564684 2021
25
Longitudinal progression of aspirin-exacerbated respiratory disease: analysis of a national insurance claims database. 62
31442000 2019
26
Biologic Therapy in a Patient with Asthma and Nasal Polyps. 62
31076065 2019
27
Woakes' syndrome. 62
30936362 2019
28
Rapid and Sensitive Detection of Staphylococcal Enterotoxin B by Recombinant Nanobody Using Phage Display Technology. 62
29984392 2019
29
Expression of COX-1, COX-2, 5-LOX and CysLT2 in nasal polyps and bronchial tissue of patients with aspirin exacerbated airway disease. 62
31889962 2019
30
Role of allergen-specific T-follicular helper cells in immunotherapy. 62
30124489 2018
31
Samter's Triad: State of the Art. 62
29642688 2018
32
Urinary Leukotriene E4 to Determine Aspirin Intolerance in Asthma: A Systematic Review and Meta-Analysis. 62
28202405 2017
33
Increased airway hyperresponsiveness to adenosine in patients with aspirin intolerant asthma. 62
27816384 2017
34
Outcomes of endoscopic ethmoidectomy performed on a day-case basis: a prospective bi-centric study. 62
27535844 2017
35
Longitudinal improvement and stability of olfactory function in the evaluation of surgical management for chronic rhinosinusitis. 62
27218483 2016
36
Aspirin-exacerbated respiratory disease: Prevalence, diagnosis, treatment, and considerations for the future. 62
28124651 2016
37
Association between thromboxane A2 receptor polymorphisms and asthma risk: A meta-analysis. 62
27058349 2016
38
Differences in urinary leukotriene E4 levels and distribution of eosinophils between chronic rhinosinusitis patients with aspirin-intolerant and -tolerant asthma. 62
26527517 2016
39
Non-Steroidal Anti-Inflammatory Drugs and Aspirin Therapy for the Treatment of Acute and Recurrent Idiopathic Pericarditis. 62
27023565 2016
40
The whole-genome expression analysis of peripheral blood mononuclear cells from aspirin sensitive asthmatics versus aspirin tolerant patients and healthy donors after in vitro aspirin challenge. 62
26646719 2015
41
Age-related increased prevalence of asthma and nasal polyps in chronic rhinosinusitis and its association with altered IL-6 trans-signaling. 62
26266960 2015
42
A 12½-year journey of a patient with Samter triad syndrome and sporadic omalizumab use. 62
26392046 2015
43
Aspirin desensitization for patients with aspirin-exacerbated respiratory disease: A randomized double-blind placebo-controlled trial. 62
26083948 2015
44
Churg-Strauss syndrome: a new endotype of severe asthma? Results of 14 Turkish patients. 62
24761830 2015
45
[Prevalence of intolerance to salicylates in patients with nasal polyposis]. 62
26239330 2015
46
Association of Leukotriene C4 Synthase A-444C Polymorphism with Asthma and Asthma Phenotypes in Romanian Population. 62
28275397 2015
47
Aspirin-intolerant asthma in the population: prevalence and important determinants. 62
24961377 2015
48
Risk factors associated with severity of eosinophilic otitis media. 62
25199747 2014
49
Quality of life improvement from sinus surgery in chronic rhinosinusitis patients with asthma and nasal polyps. 62
25256422 2014
50
Myeloid-derived suppressor cell function is diminished in aspirin-triggered allergic airway hyperresponsiveness in mice. 62
24948368 2014
Sources

Variations for Asthma, Nasal Polyps, and Aspirin Intolerance

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ClinVar genetic disease variations for Asthma, Nasal Polyps, and Aspirin Intolerance:

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TBX21, LOC109286563 NG_012166.1:g.3219T>C SNV Pathogenic
Risk Factor
 5321 GRCh37: 17:45808828-45808828
GRCh38: 17:47731462-47731462
2 PTGER2 NC_000014.9:g.52300623G>A SNV Risk Factor
 13360 GRCh37: 14:52767341-52767341
GRCh38: 14:52300623-52300623
3 TBX21 NM_013351.2(TBX21):c.83G>A (p.Gly28Asp) SNV Uncertain Significance
 626179 rs1567918419 GRCh37: 17:45810903-45810903
GRCh38: 17:47733537-47733537
4 TBX21 NM_013351.2(TBX21):c.1272G>T (p.Glu424Asp) SNV Uncertain Significance
 626180 rs750645061 GRCh37: 17:45822396-45822396
GRCh38: 17:47745030-47745030
5 TBX21 NM_013351.2(TBX21):c.326C>G (p.Ala109Gly) SNV Uncertain Significance
 828012 rs377743321 GRCh37: 17:45811146-45811146
GRCh38: 17:47733780-47733780
6 TBX21 NM_013351.2(TBX21):c.1066T>C (p.Ser356Pro) SNV Uncertain Significance
 992544 rs751786712 GRCh37: 17:45822190-45822190
GRCh38: 17:47744824-47744824
7 TBX21 NM_013351.2(TBX21):c.1157G>T (p.Trp386Leu) SNV Uncertain Significance
 992545 rs751981250 GRCh37: 17:45822281-45822281
GRCh38: 17:47744915-47744915
8 ALOX15 NM_001140.5(ALOX15):c.1679C>T (p.Thr560Met) SNV Benign
 624559 rs34210653 GRCh37: 17:4535314-4535314
GRCh38: 17:4632019-4632019
Sources

Expression for Asthma, Nasal Polyps, and Aspirin Intolerance

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Search GEO for disease gene expression data for Asthma, Nasal Polyps, and Aspirin Intolerance.
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Pathways for Asthma, Nasal Polyps, and Aspirin Intolerance

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Pathways related to Asthma, Nasal Polyps, and Aspirin Intolerance according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Beta-2 adrenergic-dependent CFTR expression 22
Show member pathways
 12.26 PTGS1 PTGER2 CYSLTR2 CYSLTR1
2
NF-kappaB Signaling 3
12.17 TBX21 PTGS1 ALOX5
3
Prostaglandin synthesis and regulation 74
Show member pathways
 11.44 TBXA2R PTGS1 PTGER2
4
Celecoxib Pathway, Pharmacodynamics 60
11.26 TBXA2R PTGS1 PTGER2
5
Platelet Aggregation Inhibitor Pathway, Pharmacodynamics 60
11.14 TBXA2R PTGS1 PTGER2
6
Endothelins 61
10.96 CYSLTR2 CYSLTR1
7
Eicosanoid ligand-binding receptors 66
Show member pathways
 10.94 TBXA2R PTGER2 CYSLTR2 CYSLTR1
8
HETE and HPETE biosynthesis and metabolism 22
10.76 PTGS1 ALOX5
9
Prostaglandin and leukotriene metabolism in senescence 74
Show member pathways
 10.68 PTGS1 PTGER2 LTC4S CYSLTR1 ALOX5
10
Leukotriene modifiers pathway, Pharmacodynamics 60
10.23 LTC4S CYSLTR1 ALOX5
Sources

GO Terms for Asthma, Nasal Polyps, and Aspirin Intolerance

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Cellular components related to Asthma, Nasal Polyps, and Aspirin Intolerance according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 9.5 TBXA2R PTGER2 HLA-DRB1 CYSLTR2 CYSLTR1
2 plasma membrane GO:0005887 9.5 TBXA2R PTGER2 HLA-DRB1 CYSLTR2 CYSLTR1

Biological processes related to Asthma, Nasal Polyps, and Aspirin Intolerance according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 inflammatory response GO:0006954 9.95 TBXA2R PTGS1 PTGER2 ALOX5
2 positive regulation of cytosolic calcium ion concentration GO:0007204 9.85 TBXA2R PTGER2 CYSLTR1
3 inflammatory response to antigenic stimulus GO:0002437 9.62 HLA-DRB1 CYSLTR1
4 long-chain fatty acid biosynthetic process GO:0042759 9.56 LTC4S ALOX5
5 leukotriene metabolic process GO:0006691 9.46 LTC4S ALOX5
6 leukotriene biosynthetic process GO:0019370 9.26 LTC4S ALOX5
7 leukotriene signaling pathway GO:0061737 8.92 CYSLTR2 CYSLTR1

Molecular functions related to Asthma, Nasal Polyps, and Aspirin Intolerance according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen GO:0016702 9.46 PTGS1 ALOX5
2 leukotriene receptor activity GO:0004974 9.26 CYSLTR2 CYSLTR1
3 cysteinyl leukotriene receptor activity GO:0001631 8.92 CYSLTR2 CYSLTR1
Sources

Sources for Asthma, Nasal Polyps, and Aspirin Intolerance

About this section
2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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