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 |
---|---|---|---|---|---|---|
ADIPOR2 | ADIPOR2:g.1842237T>C | Expressivity | Altered susceptibility | P=0.005 | Play a role in meconium ileus susceptibilitymore | more |
ADIPOR2:g.1866204T>A | Expressivity | Altered susceptibility | P=0.01 | Play a role in meconium ileus susceptibilitymore | more | |
ADIPOR2:g.1901485G>T | Expressivity | Altered susceptibility | P=0.002 | Play a role in meconium ileus susceptibilitymore | more | |
ADIPOR2 | Expressivity | Risk factor | From review article | Association observed in ≥2 independent populations with ≥500 participants in aggregatemore | more | |
ADIPOR2 | Pleiotropy | Altered phenotype | From review article | Meconium ileusmore | more | |
ACE | ACE:D or I deletion | Expressivity | Altered chance of developing portal hypertension | OR=3.7, 95% CI: 1.2 to 12, P=0.03 | High-producer ACE genotype predicts patients with CF who have an increased chance of developing portal hypertensionmore | more |
ACE | Pleiotropy | Altered FEV1 level | From review article | Earlier age at which FEV1 decreased to below 50% expected for the DD genotypemore | more | |
ACE | Pleiotropy | Altered phenotype | From review article | Liver diseasemore | more | |
ABCC1 | ABCC1:g.15983174C>G | Expressivity | Altered severity | P<0.01 | The potential role of ABCC1 promoter as a modifier gene deserves further study.more | more |
ABCB4 | ABCB4:c.1005+41T>G | Penetrance | Altered incidence | Assessment of genotype–phenotype associations | May enhance the activity of the protein and thus exert a protective effect toward liver diseasemore | more |