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
TCF7L2 TCF7L2:g.114758349C>T Expressivity  Risk factor  HR=1.75 per allele, 95% CI: 1.3-2.4; P=0.0006  A modifier of risk for diabetes in CF.more more
TCF7L2 Expressivity  Risk factor  From review article  Association observed in ≥3 independent populations with ≥1000 participants in aggregatemore more
TCF7L2 Pleiotropy  Altered phenotype  From review article  Diabetesmore more
STX1A STX1A:rs2228607 Pleiotropy  Altered phenotype  From review article  Lung diseasemore more
STAT3 STAT3 Pleiotropy  Altered phenotype  From review article  Intestinemore more
STAT3 Expressivity  Altered severity  P=0.0075  Disease severitymore more
SNAP23 SNAP23 Pleiotropy  Altered phenotype  From review article  Lung diseasemore more
SLC9A3 SLC9A3:c.212-5438C>T Pleiotropy  Altered phenotype  OR=2.564; 95% CI: 1.234-5.33  The clinical and laboratory variability of CF were associated with the variants in the genes of SLC familymore more
SLC9A3:n.586624A>G Expressivity  Altered severity  Genome-wide association meta-analysis  Altered severity of lung diseasemore more
SLC9A3:c.212-5438C>T Pleiotropy  Altered phenotype  From review article  Meconium ileus + lung diseasemore more
Total 271,Each Page
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