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 |
|---|---|---|---|---|---|---|
| APIP | APIP | Pleiotropy | Altered phenotype | From review article | Lung diseasemore | more |
| AGTR2 | AGTR2:n.115386565C>T | Expressivity | Altered severity | Genome-wide association meta-analysis | Altered severity of lungdiseasemore | more |
| AGER | AGER:c.-429T>C | Expressivity | Altered FEV(1) | 8.1ah comprises linked polymorphisms of major pro-inflammatory cytokines including lta, tnf, hsp and rage. On average, fev1 was significantly lower in 8.1 ah carriers (P<0.04). | These findings support the concept that 8.1AH is an important genetic modifier of lung disease in CF.more | more |
| AGER:c.-429T>C | Expressivity | Altered gene activity and Altered severity | P=0.016 | The functional promoter AGER -429C variant is associated with an increased RAGE expression that can lead to an increased lung inflammation and a more severe lung disease.more | more | |
| AGER:c.-429T>C | Pleiotropy | Altered phenotype | From review article | Lung diseasemore | more | |
| ADRB2 | ADRB2:c.79C>G(p.Gln27Glu) | Expressivity | Altered severity | P<0.05 | Polymorphisms of the beta2AR gene contribute to clinical severity and disease progression in cystic fibrosis.more | more |
| ADRB2:T164I | Expressivity | Altered severity | P<0.05 | Polymorphisms of the beta2AR gene contribute to clinical severity and disease progression in cystic fibrosis.more | more | |
| ADRB2:c.46A>G(p.Arg16Gly) | Pleiotropy | Altered FEV1 level | From review article | Lower FEV1, FVC, MEF50%VC, and greater five-year decline in FEV1 associated with at least one Gly16 allelemore | more | |
| ADRB2:c.46A>G(p.Arg16Gly) | Expressivity | Altered severity | P<0.05 | Polymorphisms of the beta2AR gene contribute to clinical severity and disease progression in cystic fibrosis.more | more | |
| ADIPOR2 | ADIPOR2:g.1789371G>A | Expressivity | Altered susceptibility | P=0.01 | Play a role in meconium ileus susceptibilitymore | more |