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
ELF5 ELF5 Pleiotropy  Altered phenotype  From review article  Lung diseasemore more
EHF EHF:n.34810010G>A Expressivity  Altered severity  Genome-wide association meta-analysis  Altered severity of lungdiseasemore more
EHF Pleiotropy  Altered phenotype  From review article  Lung diseasemore more
EDNRA EDNRA:c.*70G>C Penetrance  Altered incidence  P=0.002  Homozygosity for the C allele at rs5335 is associated with poorer pulmonary function than homozygosity for the G allele and that the GG genotype at rs5335 appears to play a protective role in CFmore more
EDNRA:g.148434688A>T Expressivity  Risk factor  P=0.006  The intron 2 SNP (rs10305895) displayed a significant association in the Seattle and Ireland cohorts but showed no significant association in the GMS cohortmore more
EDNRA:rs1801708 Expressivity  Altered severity  Assessment of genotype–phenotype associations  The polymorphisms are associated with a more severe lung phenotype among subjects with CF.more more
EDNRA:c.*70G>C Expressivity  Altered severity  Assessment of genotype–phenotype associations  The polymorphisms are associated with a more severe lung phenotype among subjects with CF.more more
EDNRA:c.*70G>C Pleiotropy  Altered phenotype  From review article  Lung diseasemore more
EDNRA Expressivity  Risk factor  From review article  Association observed in ≥3 independent populations with ≥1000 participants in aggregatemore more
DEFB1 DEFB1:c.-20G>A(rs11362) Penetrance  Protective effect against severe pulmonary disease  OR=0.28  DEFB1 is a candidate modifier gene of the CF pulmonary phenotype.more more
Total 271,Each Page
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