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
ABCB4	ABCB4:c.1005+7A>C	Penetrance	Altered incidence	Assessment of genotype–phenotype associations	May enhance the activity of the protein and thus exert a protective effect toward liver diseasemore	19467940 more
	ABCB4:c.1357-40G>A	Penetrance	Altered incidence	Assessment of genotype–phenotype associations	May enhance the activity of the protein and thus exert a protective effect toward liver diseasemore	19467940 more
	ABCB4:c.1529A>G(p.Asn510Ser)	Penetrance	Altered incidence	Assessment of genotype–phenotype associations	May enhance the activity of the protein and thus exert a protective effect toward liver diseasemore	19467940 more
	ABCB4:c.1732-39A>G	Penetrance	Altered incidence	Assessment of genotype–phenotype associations	May enhance the activity of the protein and thus exert a protective effect toward liver diseasemore	19467940 more
	ABCB4:c.1893+34G>C	Penetrance	Altered incidence	Assessment of genotype–phenotype associations	May enhance the activity of the protein and thus exert a protective effect toward liver diseasemore	19467940 more
	ABCB4:c.1954A>G(p.Arg652Gly)	Penetrance	Altered incidence	Assessment of genotype–phenotype associations	May enhance the activity of the protein and thus exert a protective effect toward liver diseasemore	19467940 more
	ABCB4:c.2064+55A>G	Penetrance	Altered incidence	Assessment of genotype–phenotype associations	May enhance the activity of the protein and thus exert a protective effect toward liver diseasemore	19467940 more
	ABCB4:c.2211+16T>C	Penetrance	Altered incidence	Assessment of genotype–phenotype associations	May enhance the activity of the protein and thus exert a protective effect toward liver diseasemore	19467940 more
	ABCB4:c.2478+40A>G	Penetrance	Altered incidence	Assessment of genotype–phenotype associations	May enhance the activity of the protein and thus exert a protective effect toward liver diseasemore	19467940 more
	ABCB4:c.2479-67delG	Penetrance	Altered incidence	Assessment of genotype–phenotype associations	May enhance the activity of the protein and thus exert a protective effect toward liver diseasemore	19467940 more

Total 271,Each Page

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