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
HMOX1 HMOX1:c.-495A>T Expressivity  Altered severity  P=0.03; P(corrected)=0.09  The two genes showed nominal association with disease severity among CF patients.more more
HMOX1:c.636+244A>G Expressivity  Altered severity  P=0.01; P(corrected)=0.03  The two genes showed nominal association with disease severity among CF patients.more more
HLA-II HLA-II:DR4 Pleiotropy  Altered CF-associated pulmonary inflammation  P<5.10×10(-4), relative risk = 27  HLA polymorphism contributes to CF-associated pulmonary inflammation.more more
HLA-II:DR7 Pleiotropy  Altered CF-associated pulmonary inflammation  P<10(-6), relative risk = 22  HLA polymorphism contributes to CF-associated pulmonary inflammation.more more
HLA-DRA HLA-DRA:rs116003090 Expressivity  Altered severity  Genome-wide association meta-analysis  Altered severity of lungdiseasemore more
HLA HLA Pleiotropy  Altered Pseudomonas aeruginosa colonization rate  From review article  Higher frequency of DR4, DR7, and DR7/DQA0201 alleles in CF patients;Higher IgE and higher rate of Pseudomonas aeruginosa colonization associated with DR7+more more
HFE HFE:c.187C>G(p.His63Asp) Expressivity  Altered forced vital capacity and risk of MI or DIOS  Decline in forced vital capacity (p=0.01) and increased risk of mi or dios (p=0.02).  H63D HFE substitutions were associated with a more rapid rate of decline in forced vital capacity (p=0.01) and increased risk of meconium ileus or distal intestinal obstruction syndrome (p=0.02).more more
HFE:c.193A>T(p.Ser65Cys) Penetrance  Altered incidence  Assessment of genotype–phenotype associations  May enhance the activity of the protein and thus exert a protective effect toward liver diseasemore more
HFE:c.187C>G(p.His63Asp) Penetrance  Altered incidence  Assessment of genotype–phenotype associations  May enhance the activity of the protein and thus exert a protective effect toward liver diseasemore more
HFE:c.77-206G>A Expressivity  Altered rates of CFRD  P=0.029  C282Y substitutions were associated with increased rates of CFRD (58% versus 33%, p=0.026) and a trend towards increased MI or DIOS (38% versus 19%, p=0.05).more more
Total 271,Each Page
,Jump To
Page