Disorder "Cystic fibrosis"
Found 271 records
Disorder information
Disorder name:
Cystic fibrosis 
Disoder ID:
OMIM entry:
Synonyms:
CF,mucoviscidosis 
Definition:
Cystic fibrosis (CF) is a genetic disorder characterized by the production of sweat with a high salt content and mucus secretions with an abnormal viscosity. 
Modifier statisitcs
Record:
271 
Gene:
86 
Variant:
197 
Reference:
76 
Effect type:
Expressivity(157) ,Pleiotropy(82) ,Penetrance(32)  
Modifier effect:
Altered severity(64) ,Altered phenotype(52) ,Risk factor(44) ,Altered incidence(30) ,Altered FEV1 level(12) ,Altered lung function(7) ,Altered life span(6) ,Altered the contributing organ(5) ,Altered susceptibility(4) ,Altered FEV(1)(4) ,CFTR mediated residual chloride secretion(4) ,Altered Ca2+-influx(3) ,Altered Pseudomonas aeruginosa colonization rate(3) ,Altered onset time(3) ,Age-adjusted lung function(2) ,Altered CF-associated pulmonary inflammation(2) ,Altered gene activity(2) ,Altered onset time of P. aeruginosa airway infection(2) ,Altered pulmonary function(2) ,Altered epithelial chloride secretion(1) ,Altered lung disease progression(1) ,Altered RhoA activity(1) ,Altered X ray score (Chrispin-Norman) and Shwachman score(1) ,Altered acute phase levels(1) ,Altered airway nitric oxide formation(1) ,Altered annual rate of FEV1(1) ,Altered chance of developing portal hypertension(1) ,Altered forced vital capacity and risk of MI or DIOS(1) ,Altered gene activity and Altered severity(1) ,Altered intestinal secretion(1) ,Altered onset time and altered severity(1) ,Altered pulmonary prognosis(1) ,Altered rates of CFRD(1) ,Altered response to pulmonary infection with Pa(1) ,Altered risk of chronic Pseudomonas aeruginosa infection(1) ,Altered variability of FENO and P. aeruginosa colonization(1) ,Anti-inflammatory target(1) ,Prevention of disease(1) ,Protective effect against severe pulmonary disease(1)  
Modifier gene Variant Effect type Modifier effect Evidence Effect PubMed ID
GSTM3 GSTM3 Pleiotropy  Altered FEV1 level  From review article  Higher mean percent predicted FEV1 and mean FVC associated with A/B and B/B genotypesmore more
GSTM1 GSTM1:deletion Pleiotropy  Altered X ray score (Chrispin-Norman) and Shwachman score  From review article  Higher chest X ray score (Chrispin-Norman) and lower Shwachman score associated with 0/0more more
GSTM1:Null deletion Expressivity  Risk factor  Gene activity study  High levels of GSTM1 0/0 genotypes in E patients favor the substantial contribution of certain environmental toxins in the pathogenesis of this widespread disease.more more
GSTM1:Null deletion Expressivity  Altered severity  P=0.02  The genetic factor has been identified which appear to influence disease severity in cystic fibrosis.more more
GCLC GCLC:c.-594C>T Expressivity  Altered severity  Balance testing accuracy=0.6824, P=0.008  Polymorphisms in genes associated with metabolism of GSH act on the CF's severity.more more
GCLC:c.-594C>T Expressivity  Altered severity  P=0.044  CF severity is associated with polymorphisms in GSH pathways and CFTR mutationsmore more
GCLC:c.-3506A>G Expressivity  Altered severity  Balance testing accuracy=0.6824, P=0.008  Polymorphisms in genes associated with metabolism of GSH act on the CF's severity.more more
GCLC:c.-3506A>G Expressivity  Altered severity  P=0.012  CF severity is associated with polymorphisms in GSH pathways and CFTR mutationsmore more
FCGR2A FCGR2A:rs1801274 Pleiotropy  Altered risk of chronic Pseudomonas aeruginosa infection  From review article  Higher risk of chronic Pseudomonas aeruginosa infection associated with His/Arg, Arg/Arg genotypesmore more
FAM13A FAM13A Expressivity  Altered RhoA activity  Gene activity study  FAM13A is a modifier gene of CF lung phenotype regulating RhoA activity, actin cytoskeleton dynamics and epithelial-mesenchymal transition.more more
Total 271,Each Page
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