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
CEBPB CEBPB:n.48835331A>C Pleiotropy  Altered the contributing organ  P=3.80×10(-3)  The associated modifier loci colocalized with expression quantitative trait loci in the pancreasmore more
CDKN2B CDKN2B Pleiotropy  Altered phenotype  From review article  Diabetesmore more
CDKAL1 CDKAL1 Pleiotropy  Altered phenotype  From review article  Diabetesmore more
CBLN4 CBLN4 Pleiotropy  Altered phenotype  From review article  Lung diseasemore more
CASS4 CASS4 Pleiotropy  Altered phenotype  From review article  Lung diseasemore more
CAPN10 CAPN10 Pleiotropy  Altered phenotype  From review article  Diabetesmore more
C3 C3:c.-1040T>G Expressivity  Altered severity  P=0.03; P(corrected)=0.16  The two genes showed nominal association with disease severity among CF patients.more more
AURKA AURKA Pleiotropy  Altered phenotype  From review article  Lung diseasemore more
ATP12A ATP12A:c.2512-683C>T Pleiotropy  Altered the contributing organ  P=3.83×10(-10)  The associated modifier loci colocalized with expression quantitative trait loci in the pancreasmore more
ARRDC3 ARRDC3 Pleiotropy  Altered phenotype  From review article  Body mass indexmore more
Total 271,Each Page
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