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.C29T Expressivity  Altered severity  Assessment of genotype–phenotype associations  The polymorphisms are associated with a more severe lung phenotype among subjects with CF.more more
TGFB1:c.C29T Pleiotropy  Altered phenotype  From review article  Lung diseasemore more
TGFB1:c.74G>C(p.Arg25Pro) Expressivity  Altered severity  Assessment of genotype–phenotype associations  The polymorphisms are associated with a more severe lung phenotype among subjects with CF.more more
TGFB1:c.74G>C(p.Arg25Pro) Pleiotropy  Altered FEV1 level  From review article  NS for FEV1 predicted and FVC; Younger age at which FEV1 decreased to 50% expected associated with 915G in F508 homozygotes onlymore more
TGFB1:c.869T>C Pleiotropy  Altered FEV1 level  From review article  FEV1 <50% predicted and FVC <70% predicted associated with 869Tmore more
TGFB1:c.869T>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.869T>C Expressivity  Altered severity  Recessive model: P=0.0002;codominant model P=0.0009;dominant model P=0.04  The replication study confirmed the association of the TGFβ1 codon 10 CC genotype with more severe lung diseasemore more
TGFB1:c.869T>C Pleiotropy  Altered pulmonary function  RR=1.74, 95% CI: 1.11 to 2. 73  TGF-beta(1) genotypes may have a role in mediating pulmonary dysfunction in patients with cystic fibrosis.more more
TGFB1 Expressivity  Risk factor  From review article  Association observed in ≥3 independent populations with ≥1000 participants in aggregatemore more
TGFB1 Expressivity  Altered gene activity  Gene activity study  TGF-beta is sufficient to downregulate two critical chloride transporters in two CF-affected tissues that precedes expression changes of two distinct TGF-beta regulated proteins.more more
Total 271,Each Page
,Jump To
Page