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 |
---|---|---|---|---|---|---|
SLC6A14 | SLC6A14:c.-1039A>G | Pleiotropy | Altered the contributing organ | P<2.2×10(-16) | The associated modifier loci colocalized with expression quantitative trait loci in the pancreasmore | more |
SLC6A14:c.-1039A>G | Pleiotropy | Altered phenotype | Pulmonary symptom (OR=3.524; 95% CI:1.229-10.1) and osteoporosis (OR=0.203; 95% CI:0.022-0.883) | The clinical and laboratory variability of CF were associated with the variants in the genes of SLC familymore | more | |
SLC6A14:c.-1039A>G | Pleiotropy | Altered phenotype | From review article | Meconium ileus + lung diseasemore | more | |
SLC6A14 | Pleiotropy | Altered phenotype | From review article | Meconium ileus + lung + Pseudomonasmore | more | |
SLC6A14 | Expressivity | Altered severity | Gene activity study | SLC6A14 contributes to host defense by depleting extracellular arginine (an attachment-promoting metabolite for P.aeruginosa) from the airway surface liquid.more | more | |
SLC4A4 | SLC4A4 | Pleiotropy | Altered phenotype | From review article | Meconium ileusmore | more |
SLC26A9 | SLC26A9:c.-18-1931G>C | Pleiotropy | Altered the contributing organ | P<2.81×10(-11) | The associated modifier loci colocalized with expression quantitative trait loci in the pancreasmore | more |
SLC26A9:c.553-411A>G | Pleiotropy | Altered phenotype | FEVL(p=0.011), FEF50%(p=0.019), FEF75%(p=0.036) and FEF25-75%(p=0.008); | The clinical and laboratory variability of CF were associated with the variants in the genes of SLC familymore | more | |
SLC26A9:c.553-411A>G | Expressivity | Altered severity | P=0.02 | The genetic modifier SLC26A9 contributes to disease severity in the CF pancreas and intestine at birth and here we assess its relationship with disease severity and therapeutic response in the airways.more | more | |
SLC26A9:c.553-411A>G | Pleiotropy | Altered phenotype | From review article | Meconium ileus + lung diseasemore | more |