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
Total 271,Each Page
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