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
TGFB1 TGFB1:c.-1347T>C Expressivity  Altered lung function  P<0.05  TGFB1 is a modifier of CF lung disease and reveal a previously unrecognized beneficial effect of TGFB1 variants upon the pulmonary phenotype.more more
TGFB1:c.-1347T>C Expressivity  Altered severity  P=0.0002 for the comparison with the prevalence of the cc genotype in patients with an fev1 of 68 percent or more of the predicted value, by fisher’s exact test. P=0.02 for the comparison with the mean fev1 in patients with the tc/tt genotype, by the wilcoxon rank-sum test.  Genetic variation in the 5' end of TGFβ1 or a nearby upstream region modifies disease severity in cystic fibrosis.more more
TGFB1:c.-1347T>C Expressivity  Risk factor  From review article  The mutation associated with Gilbert syndrome represents a lithogenic risk factor for gallstone formation in CFmore more
TGFB1:c.-1347T>C Expressivity  Risk factor  P=0.04  The 509C/T polymorphism of the TGFB1 gene seems to be a modulator factor of cystic fibrosis.more more
TGFB1:c.74G>C(p.Arg25Pro) Pleiotropy  Altered pulmonary function  RR= 1.95, 95% CI: 1.24 to 3.06  TGF-beta(1) genotypes may have a role in mediating pulmonary dysfunction in patients with cystic fibrosis.more more
TGFB1:c.861-20C>T Expressivity  Altered lung function  P<0.05  The 3' SNP rs8179181 was highly associated with increased lung function in patients grouped by CFTR genotypemore more
TGFB1:c.869T>C Penetrance  Prevention of disease  P<0.05  There was an association between the TC genotype of the T869C polymorphism (TGF-beta1) and mild pulmonary disease in CF patients.more more
TGFB1:c.C29T Expressivity  Risk factor  From review article  The mutation associated with Gilbert syndrome represents a lithogenic risk factor for gallstone formation in CFmore more
TGFB1:c.74G>C(p.Arg25Pro) Expressivity  Risk factor  From review article  The mutation associated with Gilbert syndrome represents a lithogenic risk factor for gallstone formation in CFmore more
TGFB1:c.-1347T>C Pleiotropy  Altered phenotype  From review article  Lung diseasemore more
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