PhenoModifier-Disease Detail

Disorder "Cystic fibrosis"

Found 271 records

Disorder information

Disorder name:

Cystic fibrosis

Disoder ID:

DOID_1485

OMIM entry:

OMIM:219700

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
IL10	IL10:c.-1082A/G	Expressivity	Altered onset time	OR=1.0, 95% CI: 0.6–1.7, P=0.9	Associated with differences in age at which sputum was initially positive for either P. aeruginosa or B. cepaciamore	12554626 more
IGF2BP2	IGF2BP2	Pleiotropy	Altered phenotype	From review article	Diabetesmore	25053892 more
IFRD1	IFRD1:c.*84C>T	Expressivity	Altered severity	P<0.05	IFRD1 polymorphisms were significantly associated with variation in neutrophil effector functionmore	19242412 more
	IFRD1:c.*84C>T	Expressivity	Altered severity	P=0.004	The T allele of the common polymorphisms rs7817 and the rs7817-rs3807213 haplotype were associated with NPmore	26397160 more
	IFRD1:c.907-2282G>T	Expressivity	Altered severity	P=0.002	The T allele of the common polymorphisms rs7817 and the rs7817-rs3807213 haplotype were associated with NPmore	26397160 more
	IFRD1	Expressivity	Risk factor	From review article	Association observed in ≥2 independent populations with ≥500 participants in aggregate.more	21175684 more
	IFRD1	Pleiotropy	Altered phenotype	From review article	Lung diseasemore	25053892 more
IFNGR1	IFNGR1	Expressivity	Altered severity	From review article	Disease severitymore	25053892 more
IFNGR1	IFNGR1	Expressivity	Altered severity	P(raw)=0.0113	Disease severitymore	21731057 more
HSPA1B	HSPA1B:c.+1267A/G	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	21993476 more

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