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
NOS3 NOS3:c.894T>G(p.Asp298Glu) Expressivity  Altered airway nitric oxide formation  P=0.02  The 894T variant in the endothelial nitric oxide synthase gene is associated with increased airway nitric oxide formation in female cystic fibrosis patients, possibly affecting colonization of airways with P. aeruginosa.more more
NOS3:c.894T>G(p.Asp298Glu) Pleiotropy  Altered annual rate of FEV1  From review article  Lower Pseudomonas aeruginosa colonization rate in females with T allelemore more
NOS1 NOS1:AAT repeat polymorphism in intron 20 of the NOS1 Pleiotropy  Altered variability of FENO and P. aeruginosa colonization  4.0 +/- 0.8 [mean +/- sem] ppb versus 6.4 +/- 0.9 ppb, P=0.027  The NOS1 gene is not only associated with the variability of FENO, but also with P. aeruginosa colonization of airways in CF patients.more more
NOS1:AAT repeat polymorphism in intron 20 of the NOS1 Pleiotropy  Altered Pseudomonas aeruginosa colonization rate  From review article  Higher Pseudomonas aeruginosa colonization rate with both alleles >12 repeatsmore more
NOS1:GT repeats (from 18 to 36) in the 5 untranslated region Pleiotropy  Altered FEV1 level  From review article  Lower annual rate of FEV1 decline with both alleles >27 repeatsmore more
NOS1:GT repeats (from 18 to 36) in the 5 untranslated region Expressivity  Altered lung function  P=0.025  The annual percentage loss of FEV1 was 3.3% (95% CI 1.1 to 5.4), 3.2% (95% CI 2.4 to 4.0),and 0.8% (20.5 to 2.1) for patients with 0, 1, and 2 alleles with > 27 repeats, respectivelymore more
NAGNAG NAGNAG Expressivity  Altered severity  Pedigree analysis  Alternative splicing at a NAGNAG tandem site can remove a disease-causing UAG stop codon.more more
MUC5AC MUC5AC Pleiotropy  Altered phenotype  From review article  Lung diseasemore more
MUC4 MUC4:c.14986+555T>C Expressivity  Altered severity  Genome-wide association meta-analysis  Altered severity of lung diseasemore more
MSRA MSRA Expressivity  Risk factor  From review article  Association observed in ≥3 independent populations with ≥1000 participants in aggregatemore more
Total 271,Each Page
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