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
CFTR CFTR:c.1558G>A(p.Val520Ile) Expressivity  Risk factor  From review article  Genetic modifiers of CF-associated liver diseasemore more
CFTR:c.1645A>C(p.Ser549Arg) Expressivity  Risk factor  From review article  Genetic modifiers of CF-associated liver diseasemore more
CFTR:c.1652G>A(p.Gly551Asp) Expressivity  Risk factor  From review article  Genetic modifiers of CF-associated liver diseasemore more
CFTR:c.1652G>A(p.Gly551Asp) Expressivity  Risk factor  From review article  Mutant G551D-CFTR exhibits a channel gating defect that is not responsive to ATP-dependent opening.more more
CFTR:c.1657C>T(p.Arg553*) Expressivity  Risk factor  From review article  Genetic modifiers of CF-associated liver diseasemore more
CFTR:c.1679G>A(p.Arg560Lys) Expressivity  Risk factor  From review article  Genetic modifiers of CF-associated liver diseasemore more
CFTR:c.1680A>C(p.Arg560Ser) Expressivity  Risk factor  From review article  Genetic modifiers of CF-associated liver diseasemore more
CFTR:c.254G>T(p.Gly85Val) Expressivity  Risk factor  From review article  Genetic modifiers of CF-associated liver diseasemore more
CFTR:c.3194T>G(p.Leu1065Arg) Expressivity  Risk factor  From review article  Genetic modifiers of CF-associated liver diseasemore more
CFTR:c.3454G>C(p.Asp1152His) Expressivity  Risk factor  From review article  Genetic modifiers of CF-associated liver diseasemore more
Total 271,Each Page
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