IGER
MCID: IGR001
MIFTS: 59

Ige Responsiveness, Atopic (IGER)

Categories: Genetic diseases, Immune diseases

Aliases & Classifications for Ige Responsiveness, Atopic

MalaCards integrated aliases for Ige Responsiveness, Atopic:

Name: Ige Responsiveness, Atopic 56 29 6 71
Atopy 56 73 13 54 17 71
Atopy, Susceptibility to 56 6
Ige, Elevated Level of 56 6
Ige Response Underlying Allergic Asthma and Rhinitis 56
Immunoglobulin E, Basic Level of, in Serum 56
Hypersensitivity, Immediate 43
Immediate Hypersensitivity 71
Atopic Hypersensitivity 73
Ige, Level of; Igel 56
Ige, Level of 56
Iger 56
Igel 56

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
ige responsiveness, atopic:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 56 147050
MeSH 43 D006969
UMLS 71 C0020523 C0392707 C1840253

Summaries for Ige Responsiveness, Atopic

UniProtKB/Swiss-Prot : 73 Atopic hypersensitivity: A condition characterized by predisposition to develop hypersensitivity reactions. Atopic individuals can develop eczema, allergic rhinitis and allergic asthma.

MalaCards based summary : Ige Responsiveness, Atopic, also known as atopy, is related to churg-strauss syndrome and cytokine deficiency. An important gene associated with Ige Responsiveness, Atopic is IL21R (Interleukin 21 Receptor), and among its related pathways/superpathways are Innate Immune System and PEDF Induced Signaling. The drugs Ertapenem and Epinephrine have been mentioned in the context of this disorder. Affiliated tissues include testes, skin and lung, and related phenotypes are asthma and eczema

More information from OMIM: 147050

Related Diseases for Ige Responsiveness, Atopic

Diseases related to Ige Responsiveness, Atopic via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 569)
# Related Disease Score Top Affiliating Genes
1 churg-strauss syndrome 31.7 RNASE3 IL5 IL10
2 cytokine deficiency 31.1 IL5 IL13
3 status asthmaticus 30.9 RNASE3 IL5 IL13 IL10
4 pollen allergy 30.8 RNASE3 IL5 IL4R IL13 IGHE
5 drug allergy 30.7 IL5 IL4R IGHE
6 idiopathic nephrotic syndrome 30.6 IL4 IGHE
7 anisakiasis 29.9 RNASE3 IGHE
8 vasomotor rhinitis 29.8 RNASE3 IL5
9 chronic rhinitis 29.8 RNASE3 IL5 IL4 IL13
10 contact dermatitis 29.8 IL5 IL4 IL10 IFNG
11 hepatitis a 29.7 IL4 IL10 IFNG
12 esophagitis 29.7 IL5 IL4 IL13 IL10
13 esophagitis, eosinophilic, 1 29.6 STAT6 RNASE3 IL5 IL4 IL13
14 intrinsic asthma 29.6 RNASE3 IL5 IL4 IL13 IGHE
15 diphtheria 29.6 IL5 IL4 IL13 IFNG
16 alopecia areata 29.5 IL4 IL13 IL10 IFNG
17 keratoconjunctivitis 29.5 RNASE3 IL5 IL4 IL13 IFNG
18 metal allergy 29.4 IL4 IL10
19 allergic contact dermatitis 29.4 IL5 IL4 IL10 IFNG
20 uveitis 29.4 IL4 IL10 IFNG
21 aspergillosis 29.4 IL5 IL4 IL10 IFNG
22 cough variant asthma 29.4 RNASE3 IL5 IL4 IL13 IGHE
23 chickenpox 29.3 IL4 IL10 IFNG
24 bronchitis 29.3 RNASE3 IL5 IL4 IL13 IL10 IGHE
25 autoimmune disease 29.3 IL5 IL4 IL13 IL10 IFNG
26 latex allergy 29.3 RNASE3 IL5 IL4 IL13 IGHE IGES
27 erythema multiforme 29.3 IL5 IL4 IL13 IFNG
28 rhinitis 29.3 RNASE3 IL5 IL4R IL4 IL13 IL10
29 vernal conjunctivitis 29.3 RNASE3 IL4 IGHE IFNG
30 stomatitis 29.2 IL4 IL10 IFNG
31 dermatitis 29.2 SPINK5 PHF11 IL5 IL4 IL13 IL10
32 poliomyelitis 29.2 IL4 IL10 IFNG
33 dermatitis herpetiformis 29.2 IL5 IL4 IL10
34 chlamydia 29.2 IL5 IL4 IL10 IFNG
35 atopic keratoconjunctivitis 29.1 RNASE3 IL5 IL4 IGHE IFNG
36 vernal keratoconjunctivitis 29.1 RNASE3 IL5 IL4 IL13 IGHE IGES
37 bullous pemphigoid 29.1 RNASE3 IL5 IL4 IL13 IGHE
38 pulmonary disease, chronic obstructive 29.1 RNASE3 IL5 IL4 IL13 IL10
39 rubella 29.1 IL5 IL4 IL10 IFNG
40 toxocariasis 29.1 RNASE3 IL5 IL4 IL10 IGHE
41 filariasis 29.0 IL5 IL10 IGHE IFNG
42 clonorchiasis 29.0 IL10 IGHE IFNG
43 candidiasis 29.0 IL4 IL10 IFNG
44 acute graft versus host disease 29.0 IL4 IL10 IFNG
45 tetanus 29.0 IL5 IL4 IL13 IL10 IFNG
46 ulcerative colitis 29.0 IL4 IL13 IL10 IFNG
47 lepromatous leprosy 29.0 IL4 IL10 IFNG
48 filarial elephantiasis 28.9 IL5 IL4 IL13 IL10
49 mycoplasma pneumoniae pneumonia 28.9 IL4 IL13 IL10 IFNG
50 immune deficiency disease 28.9 IL4 IL13 IL10 IFNG

Graphical network of the top 20 diseases related to Ige Responsiveness, Atopic:



Diseases related to Ige Responsiveness, Atopic

Symptoms & Phenotypes for Ige Responsiveness, Atopic

Human phenotypes related to Ige Responsiveness, Atopic:

31
# Description HPO Frequency HPO Source Accession
1 asthma 31 HP:0002099
2 eczema 31 HP:0000964
3 allergic rhinitis 31 HP:0003193
4 increased circulating ige level 31 HP:0003212

Symptoms via clinical synopsis from OMIM:

56
Pulmonary:
asthma
hay fever

Immunology:
atopic hypersensitivity

Skin:
eczema

Lab:
ige level control

Clinical features from OMIM:

147050

MGI Mouse Phenotypes related to Ige Responsiveness, Atopic:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.93 CD14 IFNG IL10 IL13 IL21R IL4
2 immune system MP:0005387 9.77 CD14 IFNG IL10 IL13 IL21R IL4
3 respiratory system MP:0005388 9.28 CD14 IFNG IL10 IL13 IL4 IL4R

Drugs & Therapeutics for Ige Responsiveness, Atopic

Drugs for Ige Responsiveness, Atopic (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 213)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ertapenem Approved, Investigational Phase 4 153832-46-3 150610
2
Epinephrine Approved, Vet_approved Phase 4 51-43-4 5816
3
Racepinephrine Approved Phase 4 329-65-7 838
4
Fluticasone Approved, Experimental Phase 4 90566-53-3 62924
5
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 6741
6
Methylprednisolone hemisuccinate Approved Phase 4 2921-57-5
7
Prednisolone phosphate Approved, Vet_approved Phase 4 302-25-0
8
Prednisolone Approved, Vet_approved Phase 4 50-24-8 5755
9 Prednisolone acetate Approved, Vet_approved Phase 4 52-21-1
10
Montelukast Approved Phase 4 158966-92-8 5281040
11
Budesonide Approved Phase 4 51333-22-3 63006 5281004
12
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 4 1177-87-3
13
Dexamethasone Approved, Investigational, Vet_approved Phase 4 50-02-2 5743
14
Pimecrolimus Approved, Investigational Phase 4 137071-32-0 17753757 6447131
15
Prednisone Approved, Vet_approved Phase 4 53-03-2 5865
16
Clarithromycin Approved Phase 4 81103-11-9 84029
17
Clavulanate Approved, Vet_approved Phase 4 58001-44-8 5280980
18
mometasone furoate Approved, Investigational, Vet_approved Phase 4 83919-23-7
19
Amoxicillin Approved, Vet_approved Phase 4 26787-78-0 33613
20
Ergocalciferol Approved, Nutraceutical Phase 4 50-14-6 5280793
21
Vitamin D3 Approved, Nutraceutical Phase 4 67-97-0 5280795 6221
22
Prednisolone hemisuccinate Experimental Phase 4 2920-86-7
23 beta-Lactams Phase 4
24 Anti-Infective Agents Phase 4
25 Lactams Phase 4
26 Epinephryl borate Phase 4
27 Bronchodilator Agents Phase 4
28 Calcium, Dietary Phase 4
29 Methylprednisolone Acetate Phase 4
30 Leukotriene Antagonists Phase 4
31 MF59 oil emulsion Phase 4
32 Ergocalciferols Phase 4
33 Vitamin D2 Phase 4
34
Salmeterol xinafoate Phase 4 94749-08-3 56801
35 Adrenocorticotropic Hormone Phase 4
36 Corticotropin-Releasing Hormone Phase 4
37 Gastrointestinal Agents Phase 4
38 Antiemetics Phase 4
39 Histamine Antagonists Phase 4
40 Histamine H1 Antagonists Phase 4
41 Dermatologic Agents Phase 4
42 Anti-Inflammatory Agents Phase 4
43 Immunologic Factors Phase 4
44 Analgesics, Non-Narcotic Phase 4
45 Analgesics Phase 4
46 Immunosuppressive Agents Phase 4
47 Antirheumatic Agents Phase 4
48 Anti-Inflammatory Agents, Non-Steroidal Phase 4
49 Hormones Phase 4
50 Antineoplastic Agents, Hormonal Phase 4

Interventional clinical trials:

(show top 50) (show all 281)
# Name Status NCT ID Phase Drugs
1 Cross-reactivity and Tolerability of Ertapenem in Patients With IgE-mediated Allergy to Beta-lactams Unknown status NCT01159379 Phase 4 ertapenem
2 Immunological Mechanisms of Oralair® (5 Grass Mix Sublingual Allergen Immunotherapy Tablet) in Patients With Seasonal Allergic Rhinitis Unknown status NCT02014623 Phase 4 Control
3 Efficacy of Systemic Glucocorticoid in the Treatment of Wheezing in Children Unknown status NCT00494624 Phase 4 prednisolone
4 Immunologic Basis of Anti-IgE Therapy (Study II: On Patients With Asthma) Completed NCT00367016 Phase 4 Xolair (Omalizumab);Placebo
5 A Pilot Study to Evaluate the Potential of Montelukast to Prevent the Development of Nasal Symptomatology During Natural Viral Upper Respiratory Infections Completed NCT00189475 Phase 4 Montelukast
6 An Open-Label Exploratory Clinical Study to Evaluate the Antibody and Cell Mediated Immunity of One Intramuscular Dose of MF59-Adjuvanted Egg-Derived, Inactivated Novel Swine Origin A/H1N1 Monovalent Subunit Influenza Virus Vaccine in Healthy Subjects Aged 18 to 60 Years Completed NCT01079273 Phase 4
7 A Trial of Immunological Outcomes of Sublingual Immunotherapy for House Dust Mite (D. Pteronyssinus) Allergy Completed NCT00250263 Phase 4 (agent for immunotherapy) Staloral;Placebo
8 Phase 4 Study of Effects of Montelukast Treatment on Allergic Inflammation in Children With and Without Food Allergy, Single Centered, Randomised, Double Blind, Placebo Controlled Parallel Group Cross-over Study Completed NCT01618929 Phase 4 Montelukast
9 Wheezing in Black Preterm Infants: Impact of Vitamin D Supplementation Strategy Completed NCT01601847 Phase 4 Cholecalciferol
10 Two Different Dosages of Nebulized Steroid Versus Parenteral Steroid in the Management of COPD Exacerbations Completed NCT01865500 Phase 4 Budesonide 4 mg;Budesonide 8 mg;Metil prednisolone
11 Multicenter Randomised Controlled Trial of Episodic Fluticasone Versus Placebo in Viral-induced Asthma in Children Completed NCT00238927 Phase 4 inhaled fluticasone 750 mcg/day twice daily until 2 days without symptoms (maximum 15 consecutive days)
12 Prospective, Parallel-group, Randomized Study to Evaluate the Compliance to the Treatment of Children Aged Between 6 and 14 Years Old With Persistent Moderate or Severe Asthma, Receiving the Association Fluticasone 250 mcg/Dose and Salmeterol 50 mcg/Dose Twice a Day. ADERE PROJECT Completed NCT01476059 Phase 4
13 The Effect of Corticotrophin-releasing Hormone (CRH) on Esophageal Motility in Healthy Volunteers Completed NCT02736734 Phase 4 CRH
14 Innovative Steroid Treatment to Reduce Asthma Development in Children After First-time Rhinovirus Induced Wheezing - the INSTAR Study Recruiting NCT03889743 Phase 4 Dexamethasone treatment during 3 days;placebo treatment during 3 days
15 Effect of Sublingual Immunotherapy With Mite Extract in Patients With Atopic Dermatits: Placebo-controlled Double-blind Randomized Study Active, not recruiting NCT03388866 Phase 4 Mite extract sublingual immunotherapy (SLIT)
16 An Investigation of the Safety and Efficacy of Elidel® 1% Cream in Atopic Disease Modification, Assessed in a 3-year Randomized Double-blind Vehicle Controlled Phase to Evaluate Effects on Atopic Dermatitis in Infants, and a 2-3 Year Open-label Phase to Evaluate the Effect of Early Intervention Versus Delayed Intervention With Elidel® on the Incidence of Asthma in Children Terminated NCT00124709 Phase 4 Pimecrolimus;Corticosteroid
17 Role of Short Term Systemic Corticosteroid Therapy in the Management of Chronic Rhinosinusitis Without Nasal Polyps Terminated NCT01676415 Phase 4 Prednisone;Topical mometasone
18 Non-Invasive Measures of Distal Lung Disease in Asthmatics Before and After Treatment With Omalizumab Terminated NCT00784485 Phase 4 Xolair injections
19 Use of New Supraglottic Airway Devices in Severely Obese Patients: A Feasibility Study Withdrawn NCT01124825 Phase 4
20 Effects of Anti-IgE Antibody Omalizumab (Xolair) on Patients With Chronic Sinusitis and a Positive Allergen Test Withdrawn NCT00603785 Phase 4 Placebo;Xolair
21 Effect of Aerobic Training on Bronchial Hyperresponsiveness and Systemic Inflammation in Patients With Moderate or Severe Asthma: a Randomized Controlled Trial Unknown status NCT02033122 Phase 3
22 T Cell and Interferon Expression in Tonsils After Sublingual Immunotherapy and/or Nasal Live Attenuated Influenza Vaccine Unknown status NCT01924208 Phase 3
23 A Phase III, Multicenter, Open-Label Long-Term Trial to Study the Efficacy and Safety of MK-4117 in Japanese Subjects With Eczema/Dermatitis and Dermal Pruritus. Completed NCT01916980 Phase 3 Desloratadine 5 mg
24 A Phase III Multicentre, Parallel-group, Randomized, Placebo-controlled, Double-blind Clinical Trial to Study the Efficacy and Safety of MK-4117 in Japanese Subjects With Chronic Urticaria. Completed NCT01916967 Phase 3 Desloratadine;Placebo
25 A Randomized, Double-blind, Placebo-controlled Study to Investigate the Efficacy and Safety of Dupilumab Monotherapy in Patients ≥12 to <18 Years of Age, With Moderate-to-severe Atopic Dermatitis Completed NCT03054428 Phase 3 Dupilumab;Placebo
26 Double-blind, Randomised, Placebo-controlled, Phase III Study Comparing the Efficacy and Safety of Bilastine 20 mg Once Daily and Levocetirizine 5 mg for the Treatment of Chronic Idiopathic Urticaria Completed NCT00421109 Phase 3 Bilastine;Levocetirizine;Placebo
27 Effects of GOS/PDX Supplemented Formula in Preventing and Modifying the History of Allergy and Acute Infections in a Population of Infants at Risk of Atopy Completed NCT02116452 Phase 3
28 Utility of Nasal Steroids for Treatment of Childhood Obstructive Sleep Apnea Completed NCT02180672 Phase 3 Nasal Fluticasone;Placebo
29 Efficacy and Safety/Tolerability of Grass MATA MPL, a Randomized, Placebo-Controlled, Double-Blind Study Completed NCT00414141 Phase 3
30 Efficacy and Safety/Tolerability of Ragweed MATA MPL, a Randomized, Placebo-Controlled, Double-Blind Study Completed NCT00423787 Phase 3
31 Assessment of Oxidative Stress Markers in the Upper and Lower Airways of Atopic Children Treated With Nebulized Beclomethasone Completed NCT01113489 Phase 3 beclomethasone dipropionate;placebo
32 A PHASE 3 RANDOMIZED, DOUBLE-BLIND, DOUBLE-DUMMY, PLACEBO-CONTROLLED, PARALLEL GROUP, MULTI-CENTER STUDY INVESTIGATING THE EFFICACY AND SAFETY OF PF-04965842 AND DUPILUMAB IN COMPARISON WITH PLACEBO IN ADULT SUBJECTS ON BACKGROUND TOPICAL THERAPY, WITH MODERATE TO SEVERE ATOPIC DERMATITIS Completed NCT03720470 Phase 3 PF-04965842 100 mg;PF-04965842 200 mg;Dupilumab;Oral Placebo;Injectable Placebo
33 Prevention Allergic Disease of Infant With Probiotics During Pregnancy and Neonate Completed NCT00325273 Phase 3
34 Randomised Controlled Trial to Evaluate the Effect of Statins on Asthma Control of Patients With Chronic Asthma Completed NCT00126048 Phase 2, Phase 3 Atorvastatin;Placebo
35 Fluticasone Propionate Oral Dispersible Tablet Formulation in Eosinophilic Esophagitis: A Two-Part, Randomized, Double-blind, Placebo-Controlled Study of APT-1011 in Adult and Adolescent Subjects With Eosinophilic Esophagitis Recruiting NCT04281108 Phase 3 APT-1011;Placebo oral tablet
36 Immediate And Sustained Treatment Response Of Commercially Available BioMin F, Colgate Sensitive Pro-Relief And Sensodyne Rapid Action Dentifrices In Dentin Hypersensitivity - "A Randomized Clinical Trial" Recruiting NCT04249336 Phase 3 Fluoro-Calcium-Phospho-Silicate based dentifrices;8% Arginine based dentifrices;8% Strontium Acetate;Sodium Fluoride
37 A Randomized Controlled Trial of Deflazacort vs. Prednisolone in Acute-stage Allergic Bronchopulmonary Aspergillosis Recruiting NCT04227483 Phase 2, Phase 3 Deflazacort;Prednisolone
38 A Multicenter, Randomized, Double-blind, Parallel Group, Placebo Controlled, Phase 3b Study to Evaluate the Safety and Efficacy of Benralizumab 30 mg sc in Patients With Severe Asthma Uncontrolled on Standard of Care Treatment Active, not recruiting NCT03170271 Phase 3 Benralizumab (Medi-563);Placebo
39 A PHASE 3 RANDOMIZED WITHDRAWAL, DOUBLE-BLIND, PLACEBO-CONTROLLED, MULTI-CENTER STUDY INVESTIGATING THE EFFICACY AND SAFETY OF PF-04965842 IN SUBJECTS AGED 12 YEARS AND OVER, WITH MODERATE TO SEVERE ATOPIC DERMATITIS WITH THE OPTION OF RESCUE TREATMENT IN FLARING SUBJECTS Active, not recruiting NCT03627767 Phase 3 PF-04965842 100 mg;PF-04965842 200 mg;Placebo
40 Atopic Dermatitis-Like Skin Disease in Pediatric Heart Transplant Patients Terminated NCT00176956 Phase 3
41 A 52-week, Multicenter, Randomized, Double-blind, Double-dummy, Parallel-group, Placebo-controlled Study of Fevipiprant Once Daily Plus Standard-of-care (SoC) for Reduction of Systemic Corticosteroids (Oral and Parenteral) Use in Patients With Severe Asthma Terminated NCT03629249 Phase 3 Placebo;QAW039 Dose 1;QAW039 Dose 2
42 A Phase 3, Double-Blind, Randomized, Vehicle-Controlled, Multicenter, Parallel Group Evaluation of the Efficacy and Safety of MSRD-100 in Subjects >=3 Months of Age With Atopic Dermatitis Withdrawn NCT02677636 Phase 3 MSRD-100;Vehicle
43 A Phase 3, Double-Blind, Randomized, Vehicle-Controlled, Multicenter, Parallel Group Evaluation of the Efficacy and Safety of MSRD-100 in Subjects >=3 Months of Age With Atopic Dermatitis Withdrawn NCT02677610 Phase 3 MSRD-100;Vehicle
44 A 6 Week Randomized, Double Blind, Placebo-controlled Study With a 6 Week Open Label Extension to Assess the Efficacy of Etanercept in the Treatment of Chronic Idiopathic Urticaria Withdrawn NCT01030120 Phase 2, Phase 3 etanercept;placebo
45 Epicutaneous Immunotherapy (EPIT) for Peanut Allergy: A Randomized, Double-Blind, Placebo-Controlled, Phase II Study in Children and Adults (DAIT COFAR6) Completed NCT01904604 Phase 2
46 The Effects of PG102 on Allergy-related Risk Factors: A Randomized, Double Blind, Placebo Controlled Study Completed NCT01106703 Phase 2
47 A Double-Blind Phase IIb Study to Evaluate the Safety and Efficacy of Different Doses of Tyrosine Adsorbed Ragweed Allergoid With MPL® With a Single-Blind Portion to Evaluate the Residual Allergenicity in Skin Test in Patients Sensitized to Ragweed Pollen. Completed NCT00258635 Phase 2
48 A Double-Blind Phase IIb Study to Evaluate the Safety and Efficacy of Different Doses of Tyrosine Adsorbed Grass/Rye Pollen Allergoid With MPL in Patients Sensitized to Grass and Rye Pollen Completed NCT00133159 Phase 2
49 A Double-Blind Phase IIb Study to Evaluate the Safety and Efficacy of Different Doses of Tyrosine Adsorbed Birch + Hazel + Alder Pollen Allergoid With MPL® in Patients Sensitized to Birch, Hazel, Alder Pollen Completed NCT00118612 Phase 2
50 A Phase 2a, Multi-Center, Randomized, Double-Blind, Placebo-Controlled, Parallel Group, Bronchial Allergen Challenge Study to Assess the Safety, Tolerability, and Efficacy of Inhaled AIR645 in Subjects With Mild Allergic Asthma Completed NCT00941577 Phase 2 AIR645;Physiologic saline solution

Search NIH Clinical Center for Ige Responsiveness, Atopic

Inferred drug relations via UMLS 71 / NDF-RT 50 :


Allergenic extract
ALLERGENIC EXTRACT, MIXED ANTIGENS
ALLERGENIC EXTRACT, YELLOW JACKET, WHOLE BODY
Alternaria alternata allergenic extract

Cochrane evidence based reviews: hypersensitivity, immediate

Genetic Tests for Ige Responsiveness, Atopic

Genetic tests related to Ige Responsiveness, Atopic:

# Genetic test Affiliating Genes
1 Ige Responsiveness, Atopic 29 IL21R IL4R MS4A2 PLA2G7

Anatomical Context for Ige Responsiveness, Atopic

MalaCards organs/tissues related to Ige Responsiveness, Atopic:

40
Testes, Skin, Lung, T Cells, Breast, Neutrophil, Eye

Publications for Ige Responsiveness, Atopic

Articles related to Ige Responsiveness, Atopic:

(show top 50) (show all 10348)
# Title Authors PMID Year
1
Novel genetic variation of human interleukin-21 receptor is associated with elevated IgE levels in females. 56 6
12700598 2003
2
Effects of common atopy-associated amino acid substitutions in the IL-4 receptor alpha chain on IL-4 induced phenotypes. 61 54 6
15712015 2005
3
The polymorphisms S503P and Q576R in the interleukin-4 receptor alpha gene are associated with atopy and influence the signal transduction. 61 6 54
10233717 1999
4
The association of atopy with a gain-of-function mutation in the alpha subunit of the interleukin-4 receptor. 6 61 54
9392697 1997
5
Localisation of atopy and beta subunit of high-affinity IgE receptor (Fc epsilon RI) on chromosome 11q. 61 56 54
8094113 1993
6
Positional cloning of a quantitative trait locus on chromosome 13q14 that influences immunoglobulin E levels and asthma. 56 61
12754510 2003
7
Preliminary findings in corneal allograft rejection in patients with keratoconus. 56 61
12654360 2003
8
Identification of the autoantigen SART-1 as a candidate gene for the development of atopy. 56 61
12189166 2002
9
Positive association to IgE levels and a physical map of the 13q14 atopy locus. 61 56
12032735 2002
10
Association between quantitative traits underlying asthma and the HLA-DRB1 locus in a family-based population sample. 56 61
11378822 2001
11
IgE in asthma and atopy: cellular and molecular connections. 61 56
10510320 1999
12
Linkage and association of atopic asthma to markers on chromosome 13 in the Japanese population. 56 61
10400996 1999
13
Linkage and allelic association of atopy and markers flanking the IL4-receptor gene. 61 6
9515586 1998
14
Association between high serum total IgE levels and D11S97 on chromosome 11q13 in Japanese subjects. 56 61
7616543 1995
15
Linkage between severe atopy and chromosome 11q13 in Japanese families. 56 61
7820936 1994
16
Allele sharing on chromosome 11q13 in sibs with asthma and atopy. 61 56
8105198 1993
17
Chromosome 11q13 and atopy underlying atopic eczema. 61 56
8097806 1993
18
Factors confounding genetic linkage between atopy and chromosome 11q. 61 56
1486532 1992
19
Lack of linkage between atopy and locus 11q13. 56 61
1486535 1992
20
Genetic analysis of atopy in three large kindreds: no evidence of linkage to D11S97. 61 56
1486536 1992
21
Atopy and bronchial hyperresponsiveness: exclusion of linkage to markers on chromosomes 11q and 6p. 56 61
1486537 1992
22
Genetic analysis of the linkage between chromosome 11q and atopy. 56 61
1362523 1992
23
Maternal inheritance of atopic IgE responsiveness on chromosome 11q. 56 61
1353553 1992
24
Genetic analysis using DNA polymorphism of the linkage between chromosome 11q13 and atopy and bronchial hyperresponsiveness to methacholine. 61 56
1346795 1992
25
Linkage between immunoglobulin E responses underlying asthma and rhinitis and chromosome 11q. 56 61
2566826 1989
26
Dominant inheritance of atopic immunoglobulin-E responsiveness. 61 56
2891984 1988
27
A polymorphism in TIM1 is associated with susceptibility to severe hepatitis A virus infection in humans. 6
21339644 2011
28
NOD1 variation, immunoglobulin E and asthma. 56
15718249 2005
29
A novel (TG)n(GA)m repeat polymorphism 254 bp downstream of the mast cell chymase (CMA1) gene is associated with atopic asthma and total serum IgE levels. 56
15924217 2005
30
Inheritance of total serum IgE in the isolated Tangier Island population from Virginia: complexities associated with genealogical depth of pedigrees in segregation analyses. 56
16093728 2005
31
A germline mutation in KIT in familial diffuse cutaneous mastocytosis. 6
15173254 2004
32
Association of tumor necrosis factor polymorphisms with asthma and serum total IgE. 56
14681301 2004
33
Immunology: hepatitis A virus link to atopic disease. 6
14534576 2003
34
Association of Eotaxin gene family with asthma and serum total IgE. 56
12761043 2003
35
Familial aggregation and heritability of asthma-associated quantitative traits in a population-based sample of nuclear families. 56
11093275 2000
36
No linkage or association of the IL-4Ralpha gene Q576R mutation with atopic asthma in Italian families. 6
10905893 2000
37
Treatment of allergic asthma with monoclonal anti-IgE antibody. rhuMAb-E25 Study Group. 56
10607813 1999
38
The interleukin-4 receptor variant Q576R in hyper-IgE syndrome. 6
9537881 1998
39
A major gene for allergy--fact or fancy? 56
1303274 1992
40
John Bostock, hay fever, and the mechanism of allergy. 56
1360571 1992
41
Confirmation of genetic linkage between atopic IgE responses and chromosome 11q13. 56
1583642 1992
42
Genetic linkage: interpreting lod scores. 56
1536004 1992
43
Atopic disease and immunoglobulin E in twins reared apart and together. 56
2018039 1991
44
Hypervariable 'minisatellite' regions in human DNA. 56
3856104 1985
45
The inheritance of immunoglobulin E: genetic linkage analysis. 56
6581721 1983
46
Inheritance of immunoglobulin E: genetic model fitting. 56
6829611 1983
47
Genetic transmission of serum IgE Levels. 56
7304670 1981
48
Immunoglobulin E revisited. 56
7395873 1980
49
A genetic study of immunoglobulin E. 56
623102 1978
50
Separate autoantibodies to human pancreatic glucagon and somatostatin cells. 56
62113 1976

Variations for Ige Responsiveness, Atopic

ClinVar genetic disease variations for Ige Responsiveness, Atopic:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 HAVCR1 HAVCR1, 6-AA INSinsertion Affects 4270
2 IL21R IL21R, -83T-CSNV Pathogenic 5024
3 IL4R NM_000418.4(IL4R):c.1727A>G (p.Gln576Arg)SNV risk factor 14665 rs1801275 16:27374400-27374400 16:27363079-27363079
4 IL4R NM_000418.4(IL4R):c.1160C>T (p.Ser387Leu)SNV Conflicting interpretations of pathogenicity 626118 rs6413500 16:27373833-27373833 16:27362512-27362512
5 IL21R NM_181078.3(IL21R):c.-17+563G>ASNV Uncertain significance 626116 rs117535117 16:27414502-27414502 16:27403181-27403181
6 IL4R NM_000418.4(IL4R):c.1774G>T (p.Val592Leu)SNV Uncertain significance 827982 16:27374447-27374447 16:27363126-27363126

Expression for Ige Responsiveness, Atopic

Search GEO for disease gene expression data for Ige Responsiveness, Atopic.

Pathways for Ige Responsiveness, Atopic

Pathways related to Ige Responsiveness, Atopic according to GeneCards Suite gene sharing:

(show all 38)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.95 STAT6 RNASE3 MS4A2 IL5 IL4R IL4
2
Show member pathways
13.59 IL5 IL4R IL4 IL21R IL13 IL10
3
Show member pathways
13.46 STAT6 IL5 IL4R IL4 IL13 IL10
4
Show member pathways
13.3 STAT6 IL5 IL4R IL4 IL13 IL10
5
Show member pathways
13.21 PLA2G7 IL5 IL4R IL4 IL13 IL10
6
Show member pathways
12.82 RNASE3 MS4A2 IL5 IL4 IL13 IL10
7 12.8 STAT6 IL5 IL4R IL4 IL13 IFNG
8
Show member pathways
12.59 MS4A2 IL4R IL4 IL10 IGHE IFNG
9
Show member pathways
12.53 MS4A2 IL5 IL4 IL13 IGHE
10
Show member pathways
12.52 IL5 IL4 IL10 IFNG
11
Show member pathways
12.5 STAT6 IL10 IFNG CD14
12 12.47 STAT6 IL4 IL10 IFNG
13
Show member pathways
12.46 STAT6 IL5 IL4R IL4 IL21R IL13
14
Show member pathways
12.37 STAT6 IL5 IL4R IL4 IL21R IL13
15
Show member pathways
12.33 STAT6 IL4R IL4 IGHE
16
Show member pathways
12.27 IL5 IL4 IL13 IFNG
17
Show member pathways
12.22 IL5 IL4 IL13 IL10 IFNG
18
Show member pathways
12.08 STAT6 IL4R IL4 IL21R
19 11.99 IL5 IL4 IL10 IFNG CD14
20 11.94 STAT6 IL4R IL4 IL13 IL10 IGHE
21
Show member pathways
11.89 STAT6 IL4 IFNG
22 11.88 IL5 IL4R IL4 CD14
23 11.84 IL10 IFNG CD14
24
Show member pathways
11.84 IL4R IL4 IL21R IFNG
25 11.78 IL5 IL4 IL13 IFNG
26 11.78 IL5 IL4 IL13 IL10 IFNG
27
Show member pathways
11.7 IL5 IL4 IFNG
28 11.68 IL10 IFNG CD14
29 11.6 IL5 IL4 IL13
30 11.49 IL4 IL13 IL10
31 11.33 IL5 IL4R IL4 IFNG
32 11.3 IL5 IL4 IL13 IFNG
33 11.23 STAT6 IL5 IL4R IL4 IL10 IGHE
34 11.12 IL5 IL4 IL13 IL10 IFNG
35 10.99 STAT6 IL4R IL4 IL21R
36 10.97 IL5 IL4 IL13 IL10 IFNG
37 10.83 STAT6 IL5 IL4R IL4 IL13 IL10
38 10.81 IL5 IL4R IL4 IL13

GO Terms for Ige Responsiveness, Atopic

Cellular components related to Ige Responsiveness, Atopic according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.65 RNASE3 PLA2G7 IL5 IL4R IL4 IL13
2 extracellular region GO:0005576 9.4 SPINK5 RNASE3 PLA2G7 IL5 IL4R IL4

Biological processes related to Ige Responsiveness, Atopic according to GeneCards Suite gene sharing:

(show all 25)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.76 IL4 IL13 IFNG
2 positive regulation of B cell proliferation GO:0030890 9.69 IL5 IL4 IL13
3 negative regulation of endothelial cell apoptotic process GO:2000352 9.67 IL4 IL13 IL10
4 positive regulation of cold-induced thermogenesis GO:0120162 9.67 STAT6 IL4R IL4 IL13
5 positive regulation of myoblast fusion GO:1901741 9.62 IL4R IL4
6 positive regulation of chemokine biosynthetic process GO:0045080 9.62 IL4 IFNG
7 macrophage activation GO:0042116 9.61 IL4 IL13
8 positive regulation of interleukin-10 secretion GO:2001181 9.61 IL4 IL13
9 positive regulation of cytokine secretion GO:0050715 9.61 IL10 IFNG CD14
10 negative regulation of tumor necrosis factor biosynthetic process GO:0042536 9.6 IL4 IL10
11 response to molecule of bacterial origin GO:0002237 9.59 IL10 CD14
12 positive regulation of immunoglobulin production GO:0002639 9.58 IL4R IL13
13 microglial cell activation GO:0001774 9.58 IL4 IL13 IFNG
14 type 2 immune response GO:0042092 9.57 IL4 IL10
15 positive regulation of cellular respiration GO:1901857 9.56 IL4 IFNG
16 neuroinflammatory response GO:0150076 9.55 IL4 IFNG
17 regulation of isotype switching GO:0045191 9.54 IL4 IL10
18 interleukin-4-mediated signaling pathway GO:0035771 9.52 STAT6 IL4R
19 positive regulation of macrophage activation GO:0043032 9.5 IL4R IL13 IL10
20 cytokine-mediated signaling pathway GO:0019221 9.5 STAT6 IL5 IL4R IL4 IL13 IL10
21 negative regulation of complement-dependent cytotoxicity GO:1903660 9.48 IL4 IL13
22 positive regulation of isotype switching to IgE isotypes GO:0048295 9.46 STAT6 IL4
23 positive regulation of mast cell degranulation GO:0043306 9.43 IL4R IL4 IL13
24 positive regulation of MHC class II biosynthetic process GO:0045348 9.33 IL4 IL10 IFNG
25 immune response GO:0006955 9.23 MS4A2 IL5 IL4R IL4 IL13 IL10

Molecular functions related to Ige Responsiveness, Atopic according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytokine activity GO:0005125 9.02 IL5 IL4 IL13 IL10 IFNG

Sources for Ige Responsiveness, Atopic

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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