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
MBL2 MBL2 Expressivity  Altered gene activity  Assessment of genotype–phenotype associations, P=0.002  Serum MBL level was significantly related to MBL-2 haplotype, the highest protein levels were seen in patients with two wild-type structural alleles, and the lowest in individuals with two structural mutations and in heterozygotes with the X-promoter mutation.more more
MBL2 Expressivity  Altered life span  From review article  Lower FEV1 and higher frequency of Burkholderia cepacia in O/O and X-A/O; reduced survival for A/O and O/Omore more
MBL2 Expressivity  Risk factor  From review article  Association observed in ≥3 independent populations with ≥1000 participants in aggregatemore more
MBL2 Pleiotropy  Altered phenotype  From review article  Lung + liver + Pseudomonasmore more
LTA LTA:c.+252A/Gc. Expressivity  Altered FEV(1)  8.1ah comprises linked polymorphisms of major pro-inflammatory cytokines including lta, tnf, hsp and rage. On average, fev1 was significantly lower in 8.1 ah carriers (P<0.04).  These findings support the concept that 8.1AH is an important genetic modifier of lung disease in CF.more more
KRT8 KRT8:c.*4714C>G Expressivity  CFTR mediated residual chloride secretion  Pcorr = 0.0069  KRT8, but not KRT18, showed an association with CF disease severity (Pbest = 0.00131; Pcorr = 0.0185) and CFTR mediated residual chloride secretion (Pbest = 0.0004; Pcorr = 0.0069).more more
KRT8:c.*4714C>G Expressivity  Altered severity  Pcorr= 0.0185  KRT8, but not KRT18, showed an association with CF disease severity (Pbest = 0.00131; Pcorr = 0.0185) and CFTR mediated residual chloride secretion (Pbest = 0.0004; Pcorr = 0.0069).more more
KRT8:c.409-61T>C Expressivity  CFTR mediated residual chloride secretion  Pcorr = 0.0069  KRT8, but not KRT18, showed an association with CF disease severity (Pbest = 0.00131; Pcorr = 0.0185) and CFTR mediated residual chloride secretion (Pbest = 0.0004; Pcorr = 0.0069).more more
KRT8:c.409-61T>C Expressivity  Altered severity  Pcorr= 0.0185  KRT8, but not KRT18, showed an association with CF disease severity (Pbest = 0.00131; Pcorr = 0.0185) and CFTR mediated residual chloride secretion (Pbest = 0.0004; Pcorr = 0.0069).more more
KRT8:n.53283198C>A Expressivity  CFTR mediated residual chloride secretion  Pcorr = 0.0069  KRT8, but not KRT18, showed an association with CF disease severity (Pbest = 0.00131; Pcorr = 0.0185) and CFTR mediated residual chloride secretion (Pbest = 0.0004; Pcorr = 0.0069).more more
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