Disorder "Asthma"
Found 58 records
Disorder information
Disorder name:
Asthma 
Disoder ID:
Synonyms:
malignant tumor of abdomen (disorder),Exercise induced asthma,bronchial hyperreactivity,chronic obstructive asthma,chronic obstructive asthma with acute exacerbation,chronic obstructive asthma with status asthmaticus,exercise-induced asthma 
Definition:
A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing. The symptoms appear due to a variety of triggers such as allergens, irritants, respiratory infections, weather changes, exercise, stress, reflux disease, medications, foods and emotional anxiety.? 
Modifier statisitcs
Record:
58 
Gene:
23 
Variant:
41 
Reference:
11 
Effect type:
Expressivity(57) ,Penetrance(1)  
Modifier effect:
Risk factor(19) ,Altered response to corticosteroid(7) ,Altered response to leukotriene modifiers(4) ,Altered response to montelukast(4) ,Altered response to zileuton and montelukast therapy(4) ,Altered response to therapy(3) ,Altered morning PEF(2) ,Altered response to asthma therapy(2) ,Altered response to b2AR agonist(2) ,Altered response to zileuton therapy(2) ,Promoting asthmatic phenotype(2) ,Altered bronchodilator response(1) ,Altered incidence(1) ,Altered plasma concentrations of montelukast(1) ,Altered response for lung function(1) ,Altered response to inhaled corticosteroid(1) ,Altered response to treatment(1) ,Altered severity(1)  
Modifier gene Variant Effect type Modifier effect Evidence Effect PubMed ID
CASP10 CASP10:rs13396523 Expressivity  Risk factor  P=0.014  These data suggest a role for CASP10 as a potential modifier of the asthma phenotype, specifically with measures of airway obstruction and BHR.more more
CASP10:rs6435068 Expressivity  Risk factor  P=0.026  These data suggest a role for CASP10 as a potential modifier of the asthma phenotype, specifically with measures of airway obstruction and BHR.more more
CASP10:rs6435069 Expressivity  Risk factor  P=0.047  These data suggest a role for CASP10 as a potential modifier of the asthma phenotype, specifically with measures of airway obstruction and BHR.more more
ARG1 ARG1:c.-2603A>G Expressivity  Altered response to b2AR agonist  From review article  Mutations in ARG I Haplotypes increase ARG1 transcription, leading to improved response to b2AR agonistmore more
ALOX5 ALOX5:c.-1700G>A Expressivity  Altered response to montelukast  P=0.01  CYSLTR2 and ALOX5 polymorphisms may predispose a minority of individuals to excessive cysteinyl-leukotriene concentrations, yielding a distinct asthma phenotype most likely to respond to leukotriene modifier pharmacotherapy.more more
ALOX5:c.21C>T(p.Thr120Thr) Expressivity  Altered response to zileuton and montelukast therapy  From review article  Mutations in ALOX5 Causes a differential response to zileuton and montelukast therapymore more
ALOX5:c.21C>T(p.Thr120Thr) Expressivity  Altered response to montelukast  P=0.01  CYSLTR2 and ALOX5 polymorphisms may predispose a minority of individuals to excessive cysteinyl-leukotriene concentrations, yielding a distinct asthma phenotype most likely to respond to leukotriene modifier pharmacotherapy.more more
ALOX5:c.432-6550A>G Expressivity  Altered response to leukotriene modifiers  From review article  Variants in ALOX5, LTA4H, LTC4S, ABCC1, CYSLTR2, and SLCO2B1 contribute to variability in response to leukotriene modifiersmore more
ALOX5:n.67355651A>C Expressivity  Altered response to zileuton and montelukast therapy  From review article  Mutations in ALOX5 Causes a differential response to zileuton and montelukast therapymore more
ALOX5:c.-1700G>A Expressivity  Altered response to zileuton and montelukast therapy  From review article  Mutations in ALOX5 Causes a differential response to zileuton and montelukast therapymore more
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