Cystic Fibrosis disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: CYS001 MIFTS: 84	Cystic Fibrosis Categories: Genetic diseases, Rare diseases, Metabolic diseases, Gastrointestinal diseases, Liver diseases, Reproductive diseases, Respiratory diseases, Endocrine diseases
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Aliases & Classifications for Cystic Fibrosis

MalaCards integrated aliases for Cystic Fibrosis:

Name: Cystic Fibrosis ⁵⁷ ³⁸ ¹² ⁷⁶ ⁵³ ²⁵ ⁵⁹ ⁷⁵ ³⁷ ²⁹ ¹³ ⁵⁵ ⁶ ⁴³ ⁴⁴ ¹⁵ ⁶³ ⁴⁰ ⁷³

Mucoviscidosis ⁵⁷ ¹² ⁵³ ²⁵ ⁵⁹ ⁷⁵

Cf ⁵⁷ ¹² ⁵³ ²⁵ ⁵⁹ ⁷⁵

Pseudomonas Aeruginosa, Susceptibility to Chronic Infection by, in Cystic Fibrosis ⁵⁷ ⁶

Pseudomonas Aeruginosa Chronic Infection by, in Cystic Fibrosis ⁵⁷

Cystic Fibrosis Lung Disease, Modifier of ⁵⁷

Fibrocystic Disease of Pancreas ²⁵

Cystic Fibrosis of Pancreas ²⁵

Characteristics:

Orphanet epidemiological data:

⁵⁹

cystic fibrosis
Inheritance: Autosomal recessive; Age of onset: All ages; Age of death: adult,young Adult;

OMIM:

⁵⁷

Inheritance:
autosomal recessive

Miscellaneous:
delta-f508 present in 70% of alleles

HPO:

³²

cystic fibrosis:
Inheritance autosomal recessive inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases
Anatomical: Gastrointestinal diseases Liver diseases Reproductive diseases Respiratory diseases Endocrine diseases

See all MalaCards categories (disease lists)

ICD10: ³³ ³⁴

Endocrine, nutritional and metabolic diseases

Metabolic disorders

Cystic fibrosis

Cystic fibrosis with intestinal manifestations

Cystic fibrosis with other manifestations

Cystic fibrosis with pulmonary manifestations

Cystic fibrosis, unspecified

Orphanet: ⁵⁹

Rare gastroenterological diseases

Rare hepatic diseases

Rare infertility disorders

Rare respiratory diseases

External Ids:

OMIM ⁵⁷ 219700

Disease Ontology ¹² DOID:1485

ICD10 ³³ E84 E84.9

ICD9CM ³⁵ 277.0

MeSH ⁴⁴ D003550

NCIt ⁵⁰ C2975

SNOMED-CT ⁶⁸ 154767009 190905008 190911006 more

Orphanet ⁵⁹ ORPHA586

ICD10 via Orphanet ³⁴ E84.0 E84.1 E84.8 more

MESH via Orphanet ⁴⁵ D003550

UMLS via Orphanet ⁷⁴ C0010674

MedGen ⁴² C0010674

KEGG ³⁷ H00218

UMLS ⁷³ C0010674

Sources

Summaries for Cystic Fibrosis

MedlinePlus : ⁴³ Cystic fibrosis (CF) is an inherited disease of the mucus and sweat glands. It affects mostly your lungs, pancreas, liver, intestines, sinuses, and sex organs. CF causes your mucus to be thick and sticky. The mucus clogs the lungs, causing breathing problems and making it easy for bacteria to grow. This can lead to repeated lung infections and lung damage. The symptoms and severity of CF can vary. Some people have serious problems from birth. Others have a milder version of the disease that doesn't show up until they are teens or young adults. Sometimes you will have few symptoms, but later you may have more symptoms. CF is diagnosed through various tests, such as gene, blood, and sweat tests. There is no cure for CF, but treatments have improved greatly in recent years. In the past, most deaths from CF were in children and teenagers. Today, with improved treatments, some people who have CF are living into their forties, fifties, or older. Treatments may include chest physical therapy, nutritional and respiratory therapies, medicines, and exercise. NIH: National Heart, Lung, and Blood Institute

MalaCards based summary : Cystic Fibrosis, also known as mucoviscidosis, is related to bronchiectasis with or without elevated sweat chloride 1 and meconium ileus, and has symptoms including coughing, hemoptysis and snoring. An important gene associated with Cystic Fibrosis is CFTR (Cystic Fibrosis Transmembrane Conductance Regulator), and among its related pathways/superpathways are ABC transporters and Ion channel transport. The drugs Cayston and Kalydeco have been mentioned in the context of this disorder. Affiliated tissues include Lung and Lung, and related phenotypes are exocrine pancreatic insufficiency and malabsorption

OMIM : ⁵⁷ Formerly known as cystic fibrosis of the pancreas, this entity has increasingly been labeled simply 'cystic fibrosis.' Manifestations relate not only to the disruption of exocrine function of the pancreas but also to intestinal glands (meconium ileus), biliary tree (biliary cirrhosis), bronchial glands (chronic bronchopulmonary infection with emphysema), and sweat glands (high sweat electrolyte with depletion in a hot environment). Infertility occurs in males and females. For discussion of a phenotype consisting of bronchiectasis with or without elevated sweat chloride caused by mutation in the genes encoding the 3 subunits of the epithelial sodium channel, see BESC1 (211400). (219700)

UniProtKB/Swiss-Prot : ⁷⁵ Cystic fibrosis: A common generalized disorder of the exocrine glands which impairs clearance of secretions in a variety of organs. It is characterized by the triad of chronic bronchopulmonary disease (with recurrent respiratory infections), pancreatic insufficiency (which leads to malabsorption and growth retardation) and elevated sweat electrolytes. It is the most common genetic disease in Caucasians, with a prevalence of about 1 in 2'000 live births. Inheritance is autosomal recessive.

NIH Rare Diseases : ⁵³ Cystic fibrosis (CF) is a genetic disorder that causes mucus to build up and damage organs in the body, particularly the lungs and pancreas. Signs and symptoms may include salty-tasting skin; persistent coughing; frequent lung infections; wheezing or shortness of breath; poor growth; weight loss; greasy, bulky stools; difficulty with bowel movements; and in males, infertility. Over time, mucus buildup and infections can lead to permanent lung damage, including the formation of scar tissue (fibrosis) and cysts in the lungs. CF is caused by mutations in the CFTR gene and inheritance is autosomal recessive. Treatment aims to relieve symptoms and usually includes respiratory therapies, inhaled medicines, pancreatic enzyme supplement, and nutritional supplements. Newer medications such as CFTR modulators have been approved for use in the United States. Ongoing research is focused on finding a cure for the disease.

Genetics Home Reference : ²⁵ Cystic fibrosis is an inherited disease characterized by the buildup of thick, sticky mucus that can damage many of the body's organs. The disorder's most common signs and symptoms include progressive damage to the respiratory system and chronic digestive system problems. The features of the disorder and their severity varies among affected individuals.

Disease Ontology : ¹² An autosomal recessive disease that is characterized by the buildup of thick, sticky mucus that can damage many organs.

PubMed Health : ⁶³ About cystic fibrosis: Cystic fibrosis (SIS-tik fi-BRO-sis), or CF, is an inherited disease of the secretory (see-KREH-tor-ee) glands. Secretory glands include glands that make mucus and sweat."Inherited" means the disease is passed from parents to children through genes. People who have CF inherit two faulty genes for the disease—one from each parent. The parents likely don't have the disease themselves.CF mainly affects the lungs, pancreas, liver, intestines, sinuses, and sex organs.

Wikipedia : ⁷⁶ Cystic fibrosis (CF) is a genetic disorder that affects mostly the lungs, but also the pancreas, liver,... more...

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Related Diseases for Cystic Fibrosis

Diseases related to Cystic Fibrosis via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 406)

#	Related Disease	Score	Top Affiliating Genes
1	bronchiectasis with or without elevated sweat chloride 1	34.6	CFTR SCNN1B
2	meconium ileus	34.0	CFTR CLCA1 GUCY2C
3	bronchiectasis	34.0	CFTR CXCL8 ELANE SCNN1A SCNN1B SCNN1G
4	pseudohypoaldosteronism, type i, autosomal recessive	33.3	SCNN1A SCNN1B SCNN1G
5	lung disease	32.8	CFTR CXCL8 ELANE TGFB1
6	pulmonary disease, chronic obstructive	32.0	CFTR CLCA1 CXCL8 ELANE TGFB1
7	bronchitis	31.8	CFTR CXCL8 ELANE
8	pseudohypoaldosteronism	31.5	SCNN1A SCNN1B SCNN1G
9	inflammatory bowel disease	31.3	CXCL8 DEFB1 ELANE S100A8 S100A9 TGFB1
10	idiopathic bronchiectasis	31.3	CFTR SCNN1A SCNN1B SCNN1G
11	cystic fibrosis, modifier of, 1	12.4
12	cystic fibrosis with helicobacter pylori gastritis, megaloblastic anemia, and mental retardation	12.2
13	cystic fibrosis and congenital absence of the vas deferens	12.0
14	bronchiectasis with or without elevated sweat chloride 2	11.9
15	bronchiectasis with or without elevated sweat chloride 3	11.9
16	vas deferens, congenital bilateral aplasia of	11.5
17	allergic bronchopulmonary aspergillosis	11.5
18	pancreatitis	11.4
19	aspergillosis	11.4
20	aquagenic syringeal acrokeratoderm	11.4
21	liddle syndrome	11.3	CFTR SCNN1A SCNN1B SCNN1G
22	pseudohypoaldosteronism, type i, autosomal dominant	11.3	SCNN1A SCNN1B SCNN1G
23	exocrine pancreatic insufficiency	11.3
24	respiratory system disease	11.3	CFTR CXCL8 ELANE TGFB1
25	stenotrophomonas maltophilia infection	11.2
26	keratomalacia	11.2
27	lubani-al saleh-teebi syndrome	11.2
28	respiratory failure	11.2
29	shwachman-diamond syndrome 1	11.2
30	autosomal genetic disease	11.2	CFTR DNASE1 ELANE
31	miliaria rubra	11.2	CFTR SCNN1G
32	nontuberculous mycobacterial lung disease	11.2
33	idiopathic interstitial pneumonia	11.2	CXCL8 ELANE TGFB1
34	duodenal atresia	11.2	CFTR GUCY2C
35	gastritis	11.2	CXCL8 DEFB1 S100A8
36	aggressive periodontitis	11.2	CXCL8 DEFB1 FCGR2A
37	leukoregulin	11.1	CXCL8 TGFB1
38	bartter syndrome, type 2, antenatal	11.1	SCNN1B SCNN1G
39	erythema elevatum diutinum	11.0	CXCL8 S100A9
40	periodontal disease	11.0	CXCL8 DEFB1 ELANE
41	felty syndrome	11.0	CXCL8 ELANE
42	bile acid synthesis defect, congenital, 2	10.9
43	young syndrome	10.9
44	bartter syndrome, type 3	10.9
45	bile acid synthesis defect, congenital, 1	10.9
46	middle lobe syndrome	10.9
47	miliaria	10.8	CFTR SCNN1G
48	pancreatic ductal adenocarcinoma	10.7
49	bestrophinopathy	10.7	CLCA1 CLCA4
50	cardiac rupture	10.5	CXCL8 ELANE

Graphical network of the top 20 diseases related to Cystic Fibrosis:

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Symptoms & Phenotypes for Cystic Fibrosis

Symptoms via clinical synopsis from OMIM:

⁵⁷

Growth Other:
failure to thrive

Laboratory Abnormalities:
hypercalciuria
high sweat sodium and chloride
hyponatremic dehydration, rarely
abnormal nasal potential differences
high newborn serum levels of immunoreactive trypsinogen

Abdomen Gastrointestinal:
rectal prolapse
meconium ileus in neonates (10-15%)
distal intestinal obstruction syndrome
adenocarcinoma of the ileum

Abdomen Pancreas:
pancreatic insufficiency in 80%

Genitourinary Internal Genitalia Female:
female decreased fertility due to thickened cervical secretions and chronic lung disease

Abdomen Biliary Tract:
biliary cirrhosis

Respiratory Airways:
asthma
bronchiectasis
pulmonary blebs
chronic bronchopulmonary infection
pseudomonas colonization

Cardiovascular Heart:
cor pulmonale

GenitourinaryInternal GenitaliaMale:
male infertility (98%) due to congenital bilateral absence of the vas deferens (cbavd)

Clinical features from OMIM:

219700

Human phenotypes related to Cystic Fibrosis:

⁵⁹ ³² (show all 21)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	exocrine pancreatic insufficiency ⁵⁹ ³²	frequent (33%)	Very frequent (99-80%)	HP:0001738
2	malabsorption ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0002024
3	recurrent respiratory infections ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0002205
4	pulmonary fibrosis ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0002206
5	hepatomegaly ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0002240
6	biliary cirrhosis ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0002613
7	immunodeficiency ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0002721
8	decreased antibody level in blood ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0004313
9	failure to thrive ³²			HP:0001508
10	cor pulmonale ³²			HP:0001648
11	dehydration ³²	occasional (7.5%)		HP:0001944
12	rectal prolapse ³²			HP:0002035
13	asthma ³²			HP:0002099
14	bronchiectasis ³²			HP:0002110
15	hypercalciuria ³²			HP:0002150
16	male infertility ³²			HP:0003251
17	meconium ileus ³²			HP:0004401
18	chronic lung disease ³²			HP:0006528
19	recurrent pneumonia ³²			HP:0006532
20	recurrent bronchopulmonary infections ³²			HP:0006538
21	elevated sweat chloride ³²			HP:0012236

UMLS symptoms related to Cystic Fibrosis:

coughing, hemoptysis, snoring

MGI Mouse Phenotypes related to Cystic Fibrosis:

⁴⁶

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	homeostasis/metabolism	MP:0005376	9.77	SCNN1G SLC9A3R1 STX1A TGFB1 CFTR CLCA1
2	digestive/alimentary	MP:0005381	9.7	CFTR GUCY2C SCNN1A SCNN1B SCNN1G SLC9A3R1
3	mortality/aging	MP:0010768	9.47	CFTR DNAJC5 DNASE1 ELANE FCGR2A GUCY2C

Sources

Drugs & Therapeutics for Cystic Fibrosis

PubMedHealth treatment related to Cystic Fibrosis: ⁶³

Cystic fibrosis (CF) has no cure. However, treatments have greatly improved in recent years. The goals of CF treatment include:Preventing and controlling lung infectionsLoosening and removing thick, sticky mucus from the lungsPreventing or treating blockages in the intestinesProviding enough nutritionPreventing dehydration (a lack of fluid in the body)Depending on the severity of CF, you or your child may be treated in a hospital.

FDA approved drugs:

#	Drug Name	Active Ingredient(s) ¹⁸	Company	Approval Date
1	Cayston ¹⁸	AZTREONAM	Gilead	February 2010
FDA Label: Cayston Disease/s that Drug Treats:cystic fibrosis patients with Pseudomonas aeruginosa Indications and Usage: ¹⁸ CAYSTON is a monobactam antibacterial indicated to improve respiratory symptoms in cystic fibrosis (CF) patients with Pseudomonas aeruginosa. Safety and effectiveness have not been established in pediatric patients below the age of 7 years, patients with FEV1 <25% or >75% predicted, or patients colonized with Burkholderia cepacia. (1) DrugBank Targets: ¹⁶ Penicillin-binding protein 3\|Beta-lactamase Mechanism of Action: ¹⁸ Target: penicillin binding proteins of susceptible bacteria Action: inhibition of bacterial cell wall synthesis FDA: Aztreonam is an antibacterial drug [see Clinical Pharmacology (12.4)]. Aztreonam exhibits activity in vitro against Gram-negative aerobic pathogens including P. aeruginosa. Aztreonam binds to penicillinbinding proteins of susceptible bacteria, which leads to inhibition of bacterial cell wall synthesis and death of the cell. Aztreonam activity is not decreased in the presence of CF lung secretions.
2	Kalydeco ¹⁸	IVACAFTOR	Vertex Pharmaceuticals	January of 2012
FDA Label: Kalydeco Disease/s that Drug Treats:cystic fibrosis with the G551D mutation in the CFTR gene Indications and Usage: ¹⁸ KALYDECO is a cystic fibrosis transmembrane conductance regulator (CFTR) potentiator indicated for the treatment of cystic fibrosis (CF) in patients age 6 years and older who have one of the following mutations in the CFTR gene: G551D, G1244E, G1349D, G178R, G551S, S1251N, S1255P, S549N, or S549R. KALYDECO is indicated for the treatment of CF in patients age 6 years and older who have an R117H mutation in the CFTR gene. If the patientâs genotype is unknown, an FDA-cleared CF mutation test should be used to detect the presence of a CFTR mutation followed by verification with bi-directional sequencing when recommended by the mutation test instructions for use. (1) Limitations of Use: * Not effective in patients with CF who are homozygous for the F508del mutation in the CFTR gene. (1, 14) DrugBank Targets: ¹⁶ Cystic fibrosis transmembrane conductance regulator Mechanism of Action: ¹⁸ Target: cystic fibrosis transmembrane conductance regulator (CFTR) Action: potentiator FDA: Ivacaftor is a potentiator of the CFTR protein. The CFTR protein is a chloride channel present at the surface of epithelial cells in multiple organs. Ivacaftor facilitates increased chloride transport by potentiating the channel-open probability (or gating) of the CFTR protein. In vitro, ivacaftor increased CFTR-mediated transepithelial current (IT) in rodent cells expressing the G551D-CFTR protein following addition of a cyclic adenosine monophosphate (cAMP) agonist with an EC50 of 100 Â± 47 nM; however, ivacaftor did not increase IT in the absence of cAMP agonist. Ivacaftor also increased IT in human bronchial epithelial cells expressing G551D-CFTR protein following addition of a cAMP agonist by 10-fold with an EC50 of 236 Â± 200 nM. Ivacaftor increased the open probability of G551D-CFTR protein in single channel patch clamp experiments using membrane patches from rodent cells expressing G551D-CFTR protein by 6-fold versus untreated cells after addition of PKA and ATP. In addition to G551D-CFTR, ivacaftor increased the channel-open probability of other mutant CFTR forms expressed in rodent cells, resulting in enhanced CFTR-mediated IT. These mutant CFTR forms included G178R-, S549N-, S549R-, G551S-, G970R-, G1244E-, S1251N-, S1255P-, and G1349D-CFTR. Ivacaftor also potentiated the channel-open probability of R117H-CFTR, which has low channel-open probability (gating) and reduced channel current amplitude (conductance) compared to normal CFTR. In vitro responses do not necessarily correspond to in vivo pharmacodynamic response or clinical benefit.
3	Orkambi ¹⁸	IVACAFTOR; LUMACAFTOR	Vertex Pharmaceuticals	July 2015
FDA Label: Orkambi Disease/s that Drug Treats:cystic fibrosis Indications and Usage: ¹⁸ ORKAMBI is a combination of lumacaftor and ivacaftor, a cystic fibrosis transmembrane conductance regulator (CFTR) potentiator, indicated for the treatment of cystic fibrosis (CF) in patients age 12 years and older who are homozygous for the F508del mutation in the CFTR gene. If the patientâs genotype is unknown, an FDA-cleared CF mutation test should be used to detect the presence of the F508del mutation on both alleles of the CFTR gene. (1) Limitations of Use: The efficacy and safety of ORKAMBI have not been established in patients with CF other than those homozygous for the F508del mutation. (1) DrugBank Targets: ¹⁶ Cystic fibrosis transmembrane conductance regulator Mechanism of Action: ¹⁸ Target: cystic fibrosis transmembrane conductance regulator (CFTR) Action: oral regulators FDA: The CFTR protein is a chloride channel present at the surface of epithelial cells in multiple organs. The F508del mutation results in protein misfolding, causing a defect in cellular processing and trafficking that targets the protein for degradation and therefore reduces the quantity of CFTR at the cell surface. The small amount of F508del-CFTR that reaches the cell surface is less stable and has low channel-open probability (defective gating activity) compared to wild-type CFTR protein. Lumacaftor improves the conformational stability of F508del-CFTR, resulting in increased processing and trafficking of mature protein to the cell surface. Ivacaftor is a CFTR potentiator that facilitates increased chloride transport by potentiating the channel-open probability (or gating) of the CFTR protein at the cell surface. In vitro studies have demonstrated that both lumacaftor and ivacaftor act directly on the CFTR protein in primary human bronchial epithelial cultures and other cell lines harboring the F508del-CFTR mutation to increase the quantity, stability, and function of F508del-CFTR at the cell surface, resulting in increased chloride ion transport. In vitro responses do not necessarily correspond to in vivo pharmacodynamic response or clinical benefit.
4	Pulmozyme ¹⁸	DORNASE ALFA	Genentech	December 1996\|March 1998
FDA Label: Pulmozyme Disease/s that Drug Treats:cystic fibrosis Indications and Usage: ¹⁸ PULMOZYME is a recombinant DNase enzyme indicated in conjunction with standard therapies for the management of cystic fibrosis (CF) patients to improve pulmonary function. (1) DrugBank Targets: ¹⁶ DNA Mechanism of Action: ¹⁸ Target: - Action: - FDA: PULMOZYME is recombinant human deoxyribonuclease I (rhDNase), an enzyme which selectively cleaves DNA. In preclinical in vitro studies, PULMOZYME hydrolyzes the DNA in sputum of CF patients and reduces sputum viscoelasticity. In CF patients, retention of viscous purulent secretions in the airways contributes both to reduced pulmonary function and to exacerbations of infection. Purulent pulmonary secretions contain very high concentrations of extracellular DNA released by degenerating leukocytes that accumulate in response to infection.
5	Tobi ¹⁸	TOBRAMYCIN	PathoGenesis	December 1997
FDA Label: Tobi Disease/s that Drug Treats:cystic fibrosis Indications and Usage: ¹⁸ TOBI is indicated for the management of cystic fibrosis patients with P. aeruginosa. Safety and efficacy have not been demonstrated in patients under the age of 6 years, patients with forced expiratory volume in 1 second (FEV1) <25% or >75% predicted, or patients colonized with Burkholderia cepacia (see CLINICAL STUDIES). DrugBank Targets: ¹⁶ 30S ribosomal protein S12\|16S rRNA Mechanism of Action: ¹⁸ Target: - Action: - FDA: Tobramycin is an aminoglycoside antibiotic produced by Streptomyces tenebrarius. (1) It acts primarily by disrupting protein synthesis, leading to altered cell membrane permeability, progressive disruption of the cell envelope, and eventual cell death.(3) Tobramycin has in vitro activity against a wide range of gram-negative organisms including Pseudomonas aeruginosa. It is bactericidal at concentrations equal to or slightly greater than inhibitory concentrations.

Drugs for Cystic Fibrosis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 474)

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

Ceftazidime

Approved

Phase 4,Phase 1,Not Applicable

78439-06-2, 72558-82-8

5481173

Meropenem

Approved, Investigational

Phase 4,Not Applicable

119478-56-7

64778 441130

Tobramycin

Approved, Investigational

Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable

32986-56-4

5496 36294

Acetylcysteine

Approved, Investigational

Phase 4,Phase 2,Phase 1

616-91-1

12035

Azithromycin

Approved

Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable

83905-01-5

55185 447043

Menthol

Approved

Phase 4,Phase 3,Phase 1,Not Applicable

2216-51-5

16666

Insulin Glargine

Approved

Phase 4,Phase 3

160337-95-1

Aztreonam

Approved

Phase 4,Phase 3,Phase 2,Not Applicable

78110-38-0

5362041 5742832

Mycophenolate mofetil

Approved, Investigational

Phase 4,Phase 3,Not Applicable

128794-94-5

5281078

Mycophenolic acid

Approved

Phase 4,Phase 3,Not Applicable

24280-93-1

446541

Ciprofloxacin

Approved, Investigational

Phase 4,Phase 2,Phase 1,Not Applicable

85721-33-1

2764

Colistin

Approved

Phase 4,Phase 3,Phase 2,Phase 1

1264-72-8, 1066-17-7

5311054

Itraconazole

Approved, Investigational

Phase 4,Phase 2,Phase 1

84625-61-6

55283

Miconazole

Approved, Investigational, Vet_approved

Phase 4,Phase 2,Phase 1

22916-47-8

4189

Doxycycline

Approved, Investigational, Vet_approved

Phase 4,Phase 2,Not Applicable

564-25-0

54671203

Pancrelipase

Approved, Investigational

Phase 4,Phase 3,Phase 2,Not Applicable

53608-75-6

Altretamine

Approved

Phase 4,Phase 1

645-05-6

2123

Tazobactam

Approved

Phase 4,Not Applicable

89786-04-9

123630

Alendronate

Approved

Phase 4,Phase 3,Not Applicable

121268-17-5, 66376-36-1

2088

Avibactam

Approved

Phase 4

1192500-31-4

Nicotine

Approved

Phase 4

54-11-5

942 89594

Tamoxifen

Approved

Phase 4

10540-29-1

2733526

Fosfomycin

Approved

Phase 4,Phase 2

23155-02-4

446987

Piperacillin

Approved

Phase 4,Not Applicable

66258-76-2

43672

Ticarcillin

Approved, Investigational, Vet_approved

Phase 4,Not Applicable

34787-01-4

36921

Rifampicin

Approved

Phase 4,Phase 2,Phase 1,Not Applicable

13292-46-1

5458213 5381226

Telavancin

Approved

Phase 4

372151-71-8

Cefepime

Approved, Investigational

Phase 4

88040-23-7

5479537

Posaconazole

Approved, Investigational, Vet_approved

Phase 4

171228-49-2

147912

Omalizumab

Approved, Investigational

Phase 4

242138-07-4

Tacrolimus

Approved, Investigational

Phase 4

104987-11-3

445643 439492

Ergocalciferol

Approved, Nutraceutical

Phase 4,Phase 3,Phase 2,Not Applicable

50-14-6

5280793

Vitamin D

Approved, Nutraceutical, Vet_approved

Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable

1406-16-2

Vitamin D3

Approved, Nutraceutical

Phase 4,Phase 3,Phase 2,Not Applicable

67-97-0

6221 5280795

Serine

Approved, Nutraceutical

Phase 4,Phase 2,Phase 1

56-45-1

5951

Anti-Bacterial Agents

Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable

Antibiotics, Antitubercular

Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable

Anti-Infective Agents

Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable

Antidotes

Phase 4,Phase 2,Phase 1,Not Applicable

Antioxidants

Phase 4,Phase 2,Phase 1,Not Applicable

Antiviral Agents

Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable

Expectorants

Phase 4,Phase 3,Phase 2,Phase 1

N-monoacetylcystine

Phase 4,Phase 2,Phase 1

Protective Agents

Phase 4,Phase 2,Phase 1,Not Applicable

Respiratory System Agents

Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable

Vaccines

Phase 4,Not Applicable

Pharmaceutical Solutions

Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable

Hormone Antagonists

Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1,Not Applicable

Hormones

Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1,Not Applicable

Hormones, Hormone Substitutes, and Hormone Antagonists

Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1,Not Applicable

Interventional clinical trials:

(show top 50) (show all 1083)

#	Name	Status	NCT ID	Phase	Drugs
1	Impact of Immunonutrition on the Patients With Cystic Fibrosis	Unknown status	NCT02048592	Phase 4
2	Duration of Antibiotics in Infective Exacerbations of Cystic Fibrosis	Unknown status	NCT01044719	Phase 4	Ceftazidime;Tobramycin;Meropenem
3	CPET in CF Patients With One G551D Mutation Taking VX770	Unknown status	NCT01937325	Phase 4	ivacaftor;placebo
4	The Use of Oral N-Acetyl Cysteine for the Treatment of Chronic Sinonasal Symptoms	Unknown status	NCT00866866	Phase 4	N-Acetyl Cysteine;Placebo
5	Evaluation and Reconditioning of Marginal Lung Donors to Transplantation by ex Vivo Lung Perfusion	Unknown status	NCT01353105	Phase 4
6	Backpack Carrying in Children With Cystic Fibrosis	Completed	NCT02700282	Phase 4
7	Cohort Study Evaluating the Clinical Effectiveness, Safety and Immunogenicity to the Pandemic Influenza Vaccination	Completed	NCT01499914	Phase 4
8	Tobramycin 300 mg Once-a-day (o.d.) Aerosol in Adults With Cystic Fibrosis	Completed	NCT01608555	Phase 4	tobramycin
9	Comparison of 2 Treatment Regimens for Eradication of P Aeruginosa Infection in Children With Cystic Fibrosis	Completed	NCT01400750	Phase 4	oral ciprofloxacin plus inhaled colistin;TOBI
10	Study of Long-term Treatment With Hypertonic Saline in Patients With Cystic Fibrosis	Completed	NCT01377792	Phase 4	Hypertonic saline
11	RhDNase and Biodistribution of PMN Serine Proteases in Cystic Fibrosis Sputum	Completed	NCT00843817	Phase 4	Pulmozyme
12	Should Any One Airway Clearance Technique be Recommended for People With Cystic Fibrosis?	Completed	NCT00890370	Phase 4
13	Treatment of Aspergillus Fumigatus (a Fungal Infection) in Patients With Cystic Fibrosis	Completed	NCT00528190	Phase 4	Itraconazole
14	Effect of Lactobacillus Reuteri in Cystic Fibrosis	Completed	NCT01737983	Phase 4
15	Comparison of Absorption of Vitamin D in Cystic Fibrosis	Completed	NCT01880346	Phase 4
16	Circadian Rhythm In Tobramycin Elimination In Cystic Fibrosis	Completed	NCT01207245	Phase 4
17	Pharmacokinetics of Tedizolid Phosphate in Cystic Fibrosis	Completed	NCT02444234	Phase 4	Tedizolid PO/IV;Tedizolid IV/PO
18	The Effect of rhDNase on Ventilation Inhomogeneity in Patients With Cystic Fibrosis	Completed	NCT00557089	Phase 4	rhDNAse
19	Effect of Azithromycin on Lung Function in 6-18 Year-olds With Cystic Fibrosis (CF) Not Infected With P. Aeruginosa	Completed	NCT00431964	Phase 4	azithromycin 250 mg tablets;placebo tablets
20	Comparison of Airway Clearance Therapy in Cystic Fibrosis Using the Same VEST Therapy Device But With Different Settings	Completed	NCT00685035	Phase 4
21	Doxycycline Effects on Inflammation in Cystic Fibrosis	Completed	NCT01323101	Phase 4	Doxycycline
22	Population Pharmacokinetics of Prolonged Infusion Meropenem in Cystic Fibrosis (CF) Children	Completed	NCT01429259	Phase 4	meropenem
23	A Study of the Comparable Efficacy and Safety of Pulmozyme (Dornase Alfa) Delivered by the eRapid Nebulizer System in Patients With Cystic Fibrosis	Completed	NCT01712334	Phase 4	dornase alfa [Pulmozyme®];dornase alfa [Pulmozyme®]
24	Long Term Safety of Tobramycin Inhalation Powder in Patients With Cystic Fibrosis	Completed	NCT01519661	Phase 4	TBM100
25	Control of Steatorrhea in Participants With Cystic Fibrosis and Exocrine Pancreatic Insufficiency	Completed	NCT01327703	Phase 4	Panzytrat® 25,000;Kreon® 25,000
26	Scandinavian Cystic Fibrosis Azithromycin Study	Completed	NCT00411736	Phase 4	Study medication, azithromycin or placebo;Azithromycin or placebo tablets
27	A Study of the Effects of Lumacaftor/Ivacaftor on Exercise Tolerance in Subjects With Cystic Fibrosis, Homozygous for the F508del-CFTR Mutation	Completed	NCT02875366	Phase 4	LUM/IVA;Placebo
28	Cystic Fibrosis and Totally Implantable Vascular Access Devices	Completed	NCT00244270	Phase 4
29	Population Pharmacokinetics and Safety of Intravenous Ceftolozane/Tazobactam in Adult Cystic Fibrosis Patients	Completed	NCT02421120	Phase 4	Ceftolozane/Tazobactam
30	Study to Validate the Instructions for Use of TOBI® Podhaler™ in Cystic Fibrosis Patients	Completed	NCT02178540	Phase 4	Placebo
31	Study of Alendronate to Prevent and Treat Osteoporosis in Cystic Fibrosis Patients	Completed	NCT00157690	Phase 4	Alendronate;Placebo
32	Ease of Use and Microbial Contamination of Tobramycin Inhalation Powder (TIP) Versus Nebulised Tobramycin Inhalation Solution (TIS) and Nebulised Colistimethate (COLI)	Completed	NCT01844778	Phase 4	Tobramycin Inhalation Powder;Tobramycin inhalation solution;Colistimethate
33	Steady-state Pharmacokinetics of Ceftazidime/Avibactam in Cystic Fibrosis	Completed	NCT02504827	Phase 4	Ceftazidime/avibactam
34	Evaluation of Ivacaftor in Patients Using Ataluren for Nonsense Mutations	Completed	NCT03256799	Phase 4	Ivacaftor
35	One Year Glargine Treatment in CFRD Children and Adolescents	Completed	NCT00483769	Phase 4	Glargine
36	PR-018: An Open-Label, Safety Extension of Study PR-011	Completed	NCT01131507	Phase 4	EUR-1008 (APT-1008)
37	A Study to Evaluate the Mode of Administration and Safety of EUR-1008 (APT-1008) in Infants 1 to 12 Months of Age	Completed	NCT01100606	Phase 4	EUR-1008 (APT-1008);EUR-1008 (APT-1008)
38	EASY: Extended Access to Sollpura Over Years	Completed	NCT02823964	Phase 4	Liprotamase
39	Clinical Study With an Enteral Formula With Symbiotic and DHA for Malnourished Children	Completed	NCT02128984	Phase 4
40	Malabsorption Blood Test:Toward a Novel Approach to Quantify Steatorrhea	Completed	NCT00572975	Phase 4
41	Electro Flo 5000 and Vest Therapy	Completed	NCT02277626	Phase 4
42	Assessment of Response to Treatment of Osteoporosis With Oral Bisphosphonates in Patients With Muscular Dystrophy	Completed	NCT01882400	Phase 4	Bisphosphonate treatment
43	Ext. Long-term Safety Study in CF Patients: Single Arm TIP	Completed	NCT01775137	Phase 4	TBM100
44	Dornase Alfa Therapy for Ventilator Associated Lung Infections in the Neonatal Intensive Care Unit (NICU)	Completed	NCT01356147	Phase 4	Dornase alfa;Placebo
45	Effectiveness and Safety of Inhaling Hypertonic Saline in Patients With Chronic Obstructive Pulmonary Disease	Completed	NCT00639236	Phase 4
46	Effects of Tamoxifen in Premenopausal Women With Benign Breast Disease Not at High-Risk of Developing Breast Cancer	Completed	NCT00999921	Phase 4	Tamoxifen;Evening Primrose Oil
47	Telavancin Pharmacokinetics in Cystic Fibrosis Patients	Recruiting	NCT03172793	Phase 4	Telavancin Injection
48	Aztreonam for Inhalation Solution (AZLI) for the Treatment of Exacerbations of Cystic Fibrosis	Recruiting	NCT02894684	Phase 4	Aztreonam;Standard Care
49	Testing the Effect of Adding Chronic Oral Azithromycin to Inhaled Tobramycin in People With CF	Recruiting	NCT02677701	Phase 4	azithromycin;placebo (for azithromycin);inhaled tobramycin
50	Standardized Treatment of Pulmonary Exacerbations II	Recruiting	NCT02781610	Phase 4	Standard of care IV antibiotic(s)

Search NIH Clinical Center for Cystic Fibrosis

Inferred drug relations via UMLS ⁷³ / NDF-RT ⁵¹ :

acetylcysteine

amiloride

amiloride hydrochloride

dornase alfa

medium chain triglycerides

sodium phenylbutyrate

Cell-based therapeutics:

Data from LifeMap, the Embryonic Development and Stem Cells Database

Read about Cystic Fibrosis cell therapies at LifeMap Discovery.

Stem-cell-based therapeutic approaches for Cystic Fibrosis:

Mesenchymal stem cells for cystic fibrosis

Embryonic/Adult Cultured Cells Related to Cystic Fibrosis:

Mouse bone marrow-derived mesenchymal stem cells (family) PMIDs: 21658631 20801416

Cochrane evidence based reviews: cystic fibrosis

Sources

Genetic Tests for Cystic Fibrosis

Genetic tests related to Cystic Fibrosis:

#	Genetic test	Affiliating Genes
1	Cystic Fibrosis ²⁹	CFTR TGFB1

Sources

Anatomical Context for Cystic Fibrosis

MalaCards organs/tissues related to Cystic Fibrosis:

⁴¹

Lung, Testes, Pancreas, Liver, Colon, Neutrophil, Bone

Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Cystic Fibrosis:

#	Tissue Anatomical CompartmentCell	Relevance
1	Lung Respiratory Bronchioles Basal Cells	Potential therapeutic candidate
2	Lung Respiratory Bronchioles Cilliated Cells	Potential therapeutic candidate, affected by disease
3	Lung Submucosal Glands	Affected by disease

Sources

Publications for Cystic Fibrosis

Articles related to Cystic Fibrosis:

(show top 50) (show all 5634)

#	Title	Authors	Year
1	Crossover Evaluation of Compressors and Nebulizers Typically Used by Cystic Fibrosis Patients. ( 29432139 )	Awad S.M....Berlinski A.	2018
2	Cytomegalovirus-associated pulmonary exacerbation in patients with cystic fibrosis. ( 29333432 )	Sawant A....Peckham D.	2018
3	Chronic infection sustained by a Pseudomonas aeruginosa High-Risk clone producing the VIM-1 metallo-I^-lactamase in a cystic fibrosis patient after lung transplantation. ( 29444761 )	Pollini S....Rossolini G.M.	2018
4	High proportion of abnormal pap smear tests and cervical dysplasia in women with cystic fibrosis. ( 29245055 )	Rousset-Jablonski C....Durieu I.	2018
5	Advances in the Diagnosis and Management of Cystic Fibrosis in the Genomic Era. ( 29436379 )	Wiencek J.R....Lo S.F.	2018
6	Pseudomonas pharyngitis in a cystic fibrosis patient. ( 29736241 )	Pradeepan S....Wark P.	2018
7	Omalizumab in allergic bronchopulmonary aspergillosis in patients with cystic fibrosis. ( 29950869 )	Ashkenazi M....Efrati O.	2018
8	<i>Mycobacterium abscessus</i> complex: Natural history and treatment outcomes at a tertiary adult cystic fibrosis center. ( 29900884 )	Tippett E....Spelman D.	2018
9	Cystic fibrosis transmembrane regulator haplotypes in households of patients with cystic fibrosis. ( 29054758 )	Furgeri D.T....Bertuzzo C.S.	2018
10	First experience in Switzerland in Phe508del homozygous cystic fibrosis patients with end-stage pulmonary disease enrolled in a lumacaftor-ivacaftor therapy trial - preliminary results. ( 29451946 )	Murer C....Benden C.	2018
11	Attention deficit hyperactivity disorder symptoms in patients with cystic fibrosis. ( 29269187 )	Cohen-Cymberknoh M....Berger I.	2018
12	Liver disease in patients with cystic fibrosis. ( 29438119 )	Kamal N....Koh C.	2018
13	Interventions for preventing distal intestinal obstruction syndrome (DIOS) in cystic fibrosis. ( 29894558 )	Green J....Carroll W.	2018
14	Prediction of Vancomycin Dose for Recommended Trough Concentrations in Pediatric Patients With Cystic Fibrosis. ( 29319843 )	Amin R.W....Thomas J.W.	2018
15	Respiratory exacerbation in a young adult with cystic fibrosis and tricuspid atresia. ( 29619223 )	Wood J....Bullock A.	2018
16	CORRIGENDUM: Reproductive genetic carrier screening for cystic fibrosis, fragile X syndrome, and spinal muscular atrophy in Australia: outcomes of 12,000 tests. ( 29388943 )	Archibald A.D....Amor D.J.	2018
17	Chasing Zero: Increasing Infection Control Compliance on an Inpatient Cystic Fibrosis Unit. ( 28658183 )	Johnson S....Burger S.	2018
18	Current and future pharmacotherapy options for non-cystic fibrosis bronchiectasis. ( 29806511 )	Athanazio R....MartA-nez-GarcA-a M.A.8.	2018
19	Reference percentiles of FEV1 for the Canadian cystic fibrosis population: comparisons across time and countries. ( 29434047 )	Kim S.O....Strug L.J.	2018
20	Preconception risk assessment for thalassaemia, sickle cell disease, cystic fibrosis and Tay-Sachs disease. ( 29537064 )	Hussein N....Qureshi N.	2018
21	C3 glomerulopathy in cystic fibrosis: a case report. ( 29592796 )	Santoro D....MagazzA^ G.	2018
22	Recent progress in translational cystic fibrosis research using precision medicine strategies. ( 28986017 )	Cholon D.M....Gentzsch M.	2018
23	RESPIRE 1: a phase III placebo-controlled randomised trial of ciprofloxacin dry powder for inhalation in non-cystic fibrosis bronchiectasis. ( 29371383 )	De Soyza A....Wilson R.	2018
24	Expiratory muscle strength and functional exercise tolerance in adults with cystic fibrosis: a cross-sectional study. ( 29943880 )	Gambazza S....Colombo C.	2018
25	Evolution of the<i>Pseudomonas aeruginosa</i>aminoglycoside mutational resistome in vitro and in the cystic fibrosis setting. ( 29437613 )	LA^pez-CausapAc C....Oliver A.	2018
26	A specialized method of sputum collection and processing for therapeutic interventions in cystic fibrosis. ( 29960875 )	McElvaney O.J....McElvaney N.G.	2018
27	RESPIRE 2: a phase III placebo-controlled randomised trial of ciprofloxacin dry powder for inhalation in non-cystic fibrosis bronchiectasis. ( 29371384 )	Aksamit T....Wilson R.	2018
28	Relationship between Physical Activity and Fatigue in Adults with Cystic Fibrosis. ( 29434417 )	Orava C....Wu K.	2018
29	Cystic fibrosis, body composition, and health outcomes: a systematic review. ( 29981489 )	Calella P....Siervo M.	2018
30	Making a (cautious) case for expanding reproductive genetic carrier screens: Australian researchers report success, and caveats, with a simultaneous panel of cystic fibrosis, fragile X syndrome, and spinal muscular atrophy. ( 29446568 )		2018
31	Inhibition of histone-deacetylase activity rescues inflammatory cystic fibrosis lung disease by modulating innate and adaptive immune responses. ( 29301535 )	Bodas M....Vij N.	2018
32	The oxygen uptake efficiency slope is not a valid surrogate of aerobic fitness in cystic fibrosis. ( 29064163 )	Williams C.A....Barker A.R.	2018
33	Clinical characterization and diagnosis of cystic fibrosis through exome sequencing in Chinese infants with Bartter-syndrome-like hypokalemia alkalosis. ( 29520692 )	Qiu L....Zhou J.	2018
34	Epidemiology and natural history of <i>Pseudomonas aeruginosa</i> airway infections in non-cystic fibrosis bronchiectasis. ( 29930949 )	Woo T.E....Parkins M.D.	2018
35	Clinical course and significance of nontuberculous mycobacteria and its subtypes in cystic fibrosis. ( 29980189 )	Eikani M.S....Levy H.	2018
36	Prognostic significance of pulmonary hypertension in patients with cystic fibrosis: A systematic review and meta-analysis. ( 29443734 )	Li D....Liu Q.	2018
37	Fitness and lung function in children with primary ciliary dyskinesia and cystic fibrosis. ( 29858006 )	Ring A.M....Nielsen K.G.	2018
38	The relationship between sweat chloride levels and mortality in cystic fibrosis varies by individual genotype. ( 29221674 )	Espel J.C....Jain M.	2018
39	Hypoglycaemia in patients with cystic fibrosis- harbinger of poor outcomes or innocent bystander? ( 29957245 )	Moheet A....Ode K.L.	2018
40	Anti-IgE therapy for allergic bronchopulmonary aspergillosis in people with cystic fibrosis. ( 29551015 )	Jat K.R....Khairwa A.	2018
41	Predictors for surgical intervention and surgical outcomes in neonates with cystic fibrosis. ( 29941358 )	Jessula S....Romao R.L.	2018
42	Risk factors for persistent Aspergillus respiratory isolation in cystic fibrosis. ( 29444760 )	Hong G....Lechtzin N.	2018
43	Intracerebral Abscess: An Uncommon Complication of Cystic Fibrosis. ( 29941375 )	Kapucu I....Kontzialis M.	2018
44	Physical Activity and Sedentary Time Patterns in Children and Adolescents With Cystic Fibrosis and Age- and Sex-Matched Healthy Controls. ( 28872398 )	Mackintosh K.A....McNarry M.A.	2018
45	Effects of Lumacaftor/Ivacaftor Therapy on CFTR Function in Phe508del Homozygous Patients with Cystic Fibrosis. ( 29327948 )	Graeber S.Y....TA1mmler B.	2018
46	13C-Mixed Triglyceride Breath Test and Fecal Elastase as an Indirect Pancreatic Function Test in Cystic Fibrosis Infants. ( 29432279 )	Kent D.S....Gaskin K.J.	2018
47	Secretin-stimulated ultrasound estimation of pancreatic secretion in cystic fibrosis validated by magnetic resonance imaging. ( 29134356 )	Engjom T....LA	2018
48	Overcoming psychosocial challenges in cystic fibrosis: Promoting resilience. ( 29979497 )	Muther E.F....Sawicki G.S.	2018
49	Mortality rate of patients with cystic fibrosis on the waiting list and within one year after lung transplantation: a survey of Italian CF centers. ( 29954414 )	Borchi B....Braggion C.	2018
50	Challenges in Laboratory Detection of Fungal Pathogens in the Airways of Cystic Fibrosis Patients. ( 28589247 )	Chen S.C....Pashley C.H.	2018

Sources

Genes for Cystic Fibrosis

Genes/enhancers related to Cystic Fibrosis (6 elite genes):

(show top 50) (show all 89)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	CFTR	Cystic Fibrosis Transmembrane Conductance Regulator	Protein Coding	1811.68	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation (loss of function) ⁵⁹ Causative variation ⁷⁵ Genetic Tests ²⁹ DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Disorders Publications Gene name Summaries Proteins Pathways & Interactions Transcripts Variants Domains & Families (show sections)	20301428 1937486 2565038 (more) 11280952 19888064 15789152 20675678 20605539 19914445 19914443 21938795 12394352 22475884 21422883 24014130 25431289 25981758 17761616 1903761 2236053 10204861 10480369 10652351 2233965 2210768 12833419 1990834 1723056 9678705 1710599 1374052 1373935 1284466 1284639 7679367 15024729 7682984 8097485 7686423 7513292 7581390 1678049 1757965 7504969 7524909 7522211 8064813 7524910 7520022 7504970 10869121 10777364 12503104 12833420 12952861 14623323 1371265 1284468 10798353 1691449 7692051 8421472 2349952 7506096 11746017 19880712 1379211 8262525 1545465 7543567 7520798 7509310 8528204 15744523 1373934 1284539 2210769 1370365 1380943 1998343 1381442 2045102 9039981 1384328 8100293 1284540 7683954 7512993 7545869 7691344 15776432 9683582 9383031 22981120 12167682 17015492 15891431 17443603 15987793 9514538 17413420 16787252 16481891 17877132 9363079 11014930 1712752 7544439 10466626 9466061 9009227 20420703 9078271 7692448 10834512 2210768 1699669 1380673 9654209 9699500 9445824 9093186 9792638 11713441 10906240 10450015 10220334 9725921 8596959 19333236 18508776 17242497 12927873 1379613 19837664 19999232 19092444 18722008 17975025 17098482 12606488 12186867 11270501 9592064 7541969 1377165 1721508 7739684 20163773 19947594 7513291 7690761 1375156 19710401 19383231 18703181 17012229 11845305 15921678 11809765 11243954 11202158 10951189 10329661 9759549 9363081 7544788 18703788 17700963 17132688 16339147 12820661 9922375 9261986 9217964 9102394 9147660 7542288 7511336 7689008 14534336 10959824 10081860 11875272 10852925 10704083 9591500 9518736 8637853 7539001 8901608 1373908 19015188
1	CFTR::GH07J117478	TSS distance: +14.5kb Elite enhancer			Curated enhancer-disease association ²³ ( 27569544 )	7540587 10200050 10204861
2	TGFB1	Transforming Growth Factor Beta 1	Protein Coding	720.89	Molecular basis known ⁵⁷ Genetic Tests ²⁹ Susceptibility factor ⁵⁷ Risk factor ⁶ Modifying germline mutation ⁵⁹ DISEASES inferred ¹⁵ GeneCards inferred via : Publications Variants (show sections)	16207846 18292811 18424453 (more) 17293864 11280952 20301428 19888064 15789152 20675678 20605539 19914445 19914443 21938795 12394352 22475884 21422883 24014130 25431289 25981758 17761616
3	FCGR2A	Fc Fragment Of IgG Receptor IIa	Protein Coding	590.36	Molecular basis known ⁵⁷ Susceptibility factor ⁵⁷ Drug response ⁶ GeneCards inferred via : Publications Variants (show sections)
4	CFTR-AS1	CFTR Antisense RNA 1	RNA Gene	156.49	Experimental evidence: Interaction ³⁹ GeneCards inferred via : Publications (show sections)	27434588
5	DNASE1	Deoxyribonuclease 1	Protein Coding	51.92	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Publications Summaries Proteins (show sections)	9476859 8711640 19807335 (more) 7606951 9230743 2251263 9289015 7785003 8100928 7643945 7480980 9070308 9541395 10092662 10862158 9192926 7492720 7589382 7842816 8036296 1538726 19025706 16265663 9262051 8710851 7533697 1635583 9660804 7663658 10917374 9565591 8792955 9184142 8700791
6	S100A8	S100 Calcium Binding Protein A8	Protein Coding	45.58	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Publications Gene name Summaries Expressions (show sections)	2001432 9460540 7762618 (more) 1540168 1996991 1524561 9920411 16571124 1373330 17472633 1490735 2039599 7695842 17090475 1810024 2292594 1984467
7	SCNN1A	Sodium Channel Epithelial 1 Alpha Subunit	Protein Coding	44.82	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Variants (show sections)
8	SLC9A3R1	SLC9A3 Regulator 1	Protein Coding	42.51	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Publications Summaries (show sections)	10562288 18055461 19234136 (more) 9613608 17504921 10852925 11304524 12502786 12651858 19889841 17613530 14604981 18184109 10047517 17409124 12621035 16129695 17895247 9671706
9	CLCA1	Chloride Channel Accessory 1	Protein Coding	42.34	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Publications Functions (show sections)	10072771 18805094 12198094 (more) 15763242 18083779 15709963 20186875 17073633
10	STX1A	Syntaxin 1A	Protein Coding	41.34	Modifying germline mutation ⁵⁹ DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Publications (show sections)	12446681 9724814 11017172 (more) 10990372 12209004
11	CLCA4	Chloride Channel Accessory 4	Protein Coding	39.17	Modifying germline mutation ⁵⁹ DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
12	DEFB1	Defensin Beta 1	Protein Coding	38.98	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Publications Summaries (show sections)	9727055 9488417 9664579 (more) 11844962 9038346
13	DCTN4	Dynactin Subunit 4	Protein Coding	36.91	Modifying germline mutation ⁵⁹ DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
14	S100A9	S100 Calcium Binding Protein A9	Protein Coding	36.26	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Publications Summaries Expressions (show sections)	7517672 7762618 15901828 (more) 2292594 14656984 9920411 2001432
15	ELANE	Elastase, Neutrophil Expressed	Protein Coding	36.11	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Publications (show sections)	16627747 8693445 9476859 (more) 7638807 7722333 8730015 16217179 7996376 7952645 1892298 9834131 9872847 7790462 8256917 16214824 9870919 8703486 17255835 10930356 2128528 16986483 2142640 1671425 2050195 1686554 1627725 8830566 9389382 8417757 11007574 9883301 9382750 8087357 1572322 1758746 2164045 18553021 1357002 17026478 15700659 10812064 12750030 11877474 10508798 9887052 9809620 9399994 18211966 17586698 11867337 9988471 9198001 8600939 1476206 1569186 17414506 16983448 16372352 15640288 12823906 11461907 7696436 1383155 20373910 9329517 7744174 7824322 18334635 16839309 15923396 12606659 11891608 17050563 15795591 12789686 12538645 10641976 10101005 7932532 8105734 16356787 14520723 12833649 12782302 15463826 12802707 10712347 8112434 11723830 12184864 15462261 15633200 16385266 17118611 18518838
16	CXCL8	C-X-C Motif Chemokine Ligand 8	Protein Coding	34.81	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Publications (show sections)	7940424 7639556 8476069 (more) 17880760 8776260 11069810 15358638 9698592 7593606 17019991 8543373 15672947 9116985 9350199 10716082 19411311 8730015 10706733 16487026 16986483 12762338 12423305 12221127 8869180 8112434 7691110 1357002 20345072 15213163 10433940 10069998 19011164 17012372 16229003 16647268 15008989 9809620 19806632 18658272 15516493 15104594 8282796 18541460 18059279 16822944 18635816 17709599 17702549 17420005 15579374 19887769 20026745 16481223 17045242 12169581 11120907 7921444 19046427 16622236 12231476 10641976 8233718 18818669 12804137 17002703
17	GUCY2C	Guanylate Cyclase 2C	Protein Coding	33.92	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Disorders Summaries (show sections)	9755058 10224234
18	SCNN1B	Sodium Channel Epithelial 1 Beta Subunit	Protein Coding	33.11	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications (show sections)
19	DNAJC5	DnaJ Heat Shock Protein Family (Hsp40) Member C5	Protein Coding	32.14	Novoseek inferred ⁵⁵ GeneCards inferred via : Publications Summaries (show sections)	16469739 19098309
20	SCNN1G	Sodium Channel Epithelial 1 Gamma Subunit	Protein Coding	32.1	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications (show sections)
21	SPINK1	Serine Peptidase Inhibitor, Kazal Type 1	Protein Coding	31.92	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Publications (show sections)	11938439 12939655 1886891 (more) 15758663 19844201 12227654 14526128 15528021 15957615 16508289 18953248 12560855 16301844 20059346 17238031 17204147 17981921 18336667 17033331 14752225 12120222 17003641 12828958 11916201 12560856 18206817 12452372
22	IFRD1	Interferon Related Developmental Regulator 1	Protein Coding	31.66	DISEASES inferred ¹⁵ GeneCards inferred via : Publications Summaries (show sections)
23	PRSS1	Serine Protease 1	Protein Coding	31.44	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Publications (show sections)	18953248 20387681 17981921 (more) 18336667
24	DERL1	Derlin 1	Protein Coding	29.13	Novoseek inferred ⁵⁵ GeneCards inferred via : Publications Summaries Pathways & Interactions (show sections)	16954204
25	SLC9A3R2	SLC9A3 Regulator 2	Protein Coding	28.68	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Publications Summaries (show sections)	10893422 12387817
26	RNF5	Ring Finger Protein 5	Protein Coding	21.48	DISEASES inferred ¹⁵ GeneCards inferred via : Publications Pathways & Interactions (show sections)
27	VCP	Valosin Containing Protein	Protein Coding	21.18	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Publications Pathways & Interactions (show sections)	18798739
28	MUC5AC	Mucin 5AC, Oligomeric Mucus/Gel-Forming	Protein Coding	21.02	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Publications (show sections)	17255563 17026478 7692897
29	BPI	Bactericidal Permeability Increasing Protein	Protein Coding	20.81	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Publications (show sections)	10749460 12593970 16096858 (more) 20107854 10836522 16861658 8733512 9650098 9294593 15463905 10893006 19702878 12869032 10366132
30	SERPINA1	Serpin Family A Member 1	Protein Coding	20.57	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Publications (show sections)	7910401 2030926 15612581 (more) 20373910 18264947 9447774 17931094 19251783 16354855
31	GOPC	Golgi Associated PDZ And Coiled-Coil Motif Containing	Protein Coding	20.23	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Publications (show sections)	11707463
32	TNFRSF1A	TNF Receptor Superfamily Member 1A	Protein Coding	20.05	DISEASES inferred ¹⁵ GeneCards inferred via : Publications Variants (show sections)
33	CLCN2	Chloride Voltage-Gated Channel 2	Protein Coding	19.88	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Publications (show sections)	11401826 19926984 15507145 (more) 10932070 7534980
34	PLCZ1	Phospholipase C Zeta 1	Protein Coding	19.63	DISEASES inferred ¹⁵ GeneCards inferred via : Publications Expressions (show sections)
35	P2RY2	Purinergic Receptor P2Y2	Protein Coding	19.5	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Publications (show sections)	8159738 12369950 7809171
36	CAMP	Cathelicidin Antimicrobial Peptide	Protein Coding	19.36	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Publications (show sections)	7529238 11053013 15463886 (more) 9736536 11557478
37	SLPI	Secretory Leukocyte Peptidase Inhibitor	Protein Coding	19.26	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Publications (show sections)	7638807 1671391 1582017 (more) 19106970 8994529 20007580
38	MPO	Myeloperoxidase	Protein Coding	19.21	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Publications (show sections)	10956629 9014602 18475652 (more) 15901828 17002703 7633718 8805680 20080069 16883063 8016773 10482305 9551742 15466253 10596704 10221442 15478278 18353929
39	IL9	Interleukin 9	Protein Coding	19.21	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Publications (show sections)	12782818 15218996 10406841 (more) 8398170 8876536 11082759 11845303 14988081 17255563
40	CANX	Calnexin	Protein Coding	19.06	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Publications (show sections)	7513695 18716059 15923638
41	TARDBP	TAR DNA Binding Protein	Protein Coding	18.93	DISEASES inferred ¹⁵ GeneCards inferred via : Publications Functions (show sections)
42	PSMB3	Proteasome Subunit Beta 3	Protein Coding	18.53	DISEASES inferred ¹⁵ GeneCards inferred via : Publications Pathways & Interactions (show sections)
43	PRKG2	Protein Kinase CGMP-Dependent 2	Protein Coding	18.39	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Publications (show sections)	9755058 12011439 10864932 (more) 9020133 10769198
44	RNASE3	Ribonuclease A Family Member 3	Protein Coding	18.3	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Publications (show sections)	9014602 17427145 9713451 (more) 8016773 18475652 7633718 10536888 9515599 8830600 10522945 9887052 7968139
45	UBC	Ubiquitin C	Protein Coding	18.17	DISEASES inferred ¹⁵ GeneCards inferred via : Publications Pathways & Interactions (show sections)
46	MBL2	Mannose Binding Lectin 2	Protein Coding	18.15	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Publications (show sections)	17158822 16879250 12887301 (more) 10866448 11333866 15516675 20068595 17045845 11359041 20298391 18988662 16105157 12473150 11836800 10449435 18637104 10541506 15654829 19467940
47	VDAC1	Voltage Dependent Anion Channel 1	Protein Coding	18.11	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Publications (show sections)	12235488 1707632 9433706 (more) 7993658 9925510 8581362 8074805 7687845 10767179
48	SFTPD	Surfactant Protein D	Protein Coding	17.89	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Publications (show sections)	15274124 12953146 14582909 (more) 14612363 9870921 16955780 17720872 18211966 16517507 17085954 16684127 12829455 15123664
49	PRTN3	Proteinase 3	Protein Coding	17.8	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Publications (show sections)	10101005 10471824 12538645 (more) 12600819 8445266
50	CTSG	Cathepsin G	Protein Coding	17.74	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Publications (show sections)	7722333 7744174

Sources

Variations for Cystic Fibrosis

UniProtKB/Swiss-Prot genetic disease variations for Cystic Fibrosis:

⁷⁵ (show top 50) (show all 128)

#	Symbol	AA change	Variation ID	SNP ID
1	CFTR	p.Ser13Phe	VAR_000101	rs397508635
2	CFTR	p.Arg31Leu	VAR_000103	rs149353983
3	CFTR	p.Ser42Phe	VAR_000104	rs143456784
4	CFTR	p.Trp57Gly	VAR_000108	rs397508272
5	CFTR	p.Pro67Leu	VAR_000109	rs368505753
6	CFTR	p.Arg74Trp	VAR_000110	rs115545701
7	CFTR	p.Gly85Glu	VAR_000112	rs75961395
8	CFTR	p.Phe87Leu	VAR_000113	rs397508403
9	CFTR	p.Gly91Arg	VAR_000114	rs121908750
10	CFTR	p.Glu92Lys	VAR_000115	rs121908751
11	CFTR	p.Gln98Arg	VAR_000116	rs397508464
12	CFTR	p.Ile105Ser	VAR_000117
13	CFTR	p.Tyr109Cys	VAR_000118	rs121909031
14	CFTR	p.Arg117Cys	VAR_000121	rs77834169
15	CFTR	p.Arg117His	VAR_000122	rs78655421
16	CFTR	p.Arg117Leu	VAR_000123	rs78655421
17	CFTR	p.Arg117Pro	VAR_000124	rs78655421
18	CFTR	p.Ala120Thr	VAR_000125	rs201958172
19	CFTR	p.His139Arg	VAR_000126	rs76371115
20	CFTR	p.Ala141Asp	VAR_000127	rs397508700
21	CFTR	p.Gly178Arg	VAR_000130	rs80282562
22	CFTR	p.Glu193Lys	VAR_000132	rs397508759
23	CFTR	p.His199Gln	VAR_000133	rs397508765
24	CFTR	p.His199Tyr	VAR_000134	rs121908802
25	CFTR	p.Pro205Ser	VAR_000135	rs121908803
26	CFTR	p.Leu206Trp	VAR_000136	rs121908752
27	CFTR	p.Asn287Tyr	VAR_000140	rs397508804
28	CFTR	p.Arg297Gln	VAR_000141	rs143486492
29	CFTR	p.Tyr301Cys	VAR_000142	rs150691494
30	CFTR	p.Ser307Asn	VAR_000143	rs397508817
31	CFTR	p.Phe311Leu	VAR_000144	rs121909016
32	CFTR	p.Gly314Glu	VAR_000146	rs75763344
33	CFTR	p.Gly314Arg	VAR_000147	rs397508819
34	CFTR	p.Arg334Trp	VAR_000148	rs121909011
35	CFTR	p.Ile336Lys	VAR_000150	rs397508139
36	CFTR	p.Thr338Ile	VAR_000151	rs77409459
37	CFTR	p.Leu346Pro	VAR_000152	rs397508146
38	CFTR	p.Arg347His	VAR_000153	rs77932196
39	CFTR	p.Arg347Leu	VAR_000154	rs77932196
40	CFTR	p.Arg347Pro	VAR_000155	rs77932196
41	CFTR	p.Arg352Gln	VAR_000156	rs121908753
42	CFTR	p.Gln359Lys	VAR_000157	rs76879328
43	CFTR	p.Ala455Glu	VAR_000160	rs74551128
44	CFTR	p.Val456Phe	VAR_000161	rs397508195
45	CFTR	p.Gly458Val	VAR_000162	rs121909009
46	CFTR	p.Gly480Cys	VAR_000165	rs79282516
47	CFTR	p.Ser492Phe	VAR_000166	rs121909017
48	CFTR	p.Glu504Gln	VAR_000167	rs397508223
49	CFTR	p.Val520Phe	VAR_000174	rs77646904
50	CFTR	p.Ser549Asn	VAR_000176	rs121908755

ClinVar genetic disease variations for Cystic Fibrosis:

⁶

(show top 50) (show all 1100)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	CFTR	NM_000492.3(CFTR): c.429delT (p.Phe143Leufs)	deletion	Pathogenic	rs387906364	GRCh38	Chromosome 7, 117531054: 117531054
2	CFTR	NM_000492.3(CFTR): c.1521_1523delCTT (p.Phe508delPhe)	deletion	Pathogenic	rs113993960	GRCh37	Chromosome 7, 117199646: 117199648
3	CFTR	NM_000492.3(CFTR): c.1521_1523delCTT (p.Phe508delPhe)	deletion	Pathogenic	rs113993960	GRCh38	Chromosome 7, 117559592: 117559594
4	CFTR	NM_000492.3(CFTR): c.1519_1521delATC (p.Ile507del)	deletion	Pathogenic	rs121908745	GRCh37	Chromosome 7, 117199644: 117199646
5	CFTR	NM_000492.3(CFTR): c.1519_1521delATC (p.Ile507del)	deletion	Pathogenic	rs121908745	GRCh38	Chromosome 7, 117559590: 117559592
6	CFTR	NM_000492.3(CFTR): c.1477C> T (p.Gln493Ter)	single nucleotide variant	Pathogenic	rs77101217	GRCh37	Chromosome 7, 117199602: 117199602
7	CFTR	NM_000492.3(CFTR): c.1477C> T (p.Gln493Ter)	single nucleotide variant	Pathogenic	rs77101217	GRCh38	Chromosome 7, 117559548: 117559548
8	CFTR	NM_000492.3(CFTR): c.328G> C (p.Asp110His)	single nucleotide variant	Pathogenic	rs113993958	GRCh37	Chromosome 7, 117171007: 117171007
9	CFTR	NM_000492.3(CFTR): c.328G> C (p.Asp110His)	single nucleotide variant	Pathogenic	rs113993958	GRCh38	Chromosome 7, 117530953: 117530953
10	CFTR	NM_000492.3(CFTR): c.350G> A (p.Arg117His)	single nucleotide variant	Pathogenic	rs78655421	GRCh37	Chromosome 7, 117171029: 117171029
11	CFTR	NM_000492.3(CFTR): c.350G> A (p.Arg117His)	single nucleotide variant	Pathogenic	rs78655421	GRCh38	Chromosome 7, 117530975: 117530975
12	CFTR	NM_000492.3(CFTR): c.1040G> C (p.Arg347Pro)	single nucleotide variant	Pathogenic	rs77932196	GRCh37	Chromosome 7, 117180324: 117180324
13	CFTR	NM_000492.3(CFTR): c.1040G> C (p.Arg347Pro)	single nucleotide variant	Pathogenic	rs77932196	GRCh38	Chromosome 7, 117540270: 117540270
14	CFTR	NM_000492.3(CFTR): c.1364C> A (p.Ala455Glu)	single nucleotide variant	Pathogenic	rs74551128	GRCh37	Chromosome 7, 117188849: 117188849
15	CFTR	NM_000492.3(CFTR): c.1364C> A (p.Ala455Glu)	single nucleotide variant	Pathogenic	rs74551128	GRCh38	Chromosome 7, 117548795: 117548795
16	CFTR	NM_000492.3(CFTR): c.1585-1G> A	single nucleotide variant	Pathogenic	rs76713772	GRCh37	Chromosome 7, 117227792: 117227792
17	CFTR	NM_000492.3(CFTR): c.1585-1G> A	single nucleotide variant	Pathogenic	rs76713772	GRCh38	Chromosome 7, 117587738: 117587738
18	CFTR	NM_000492.3(CFTR): c.1679G> C (p.Arg560Thr)	single nucleotide variant	Pathogenic	rs80055610	GRCh37	Chromosome 7, 117227887: 117227887
19	CFTR	NM_000492.3(CFTR): c.1679G> C (p.Arg560Thr)	single nucleotide variant	Pathogenic	rs80055610	GRCh38	Chromosome 7, 117587833: 117587833
20	CFTR	NM_000492.3(CFTR): c.1687T> A (p.Tyr563Asn)	single nucleotide variant	Pathogenic	rs121909006	GRCh37	Chromosome 7, 117230414: 117230414
21	CFTR	NM_000492.3(CFTR): c.1687T> A (p.Tyr563Asn)	single nucleotide variant	Pathogenic	rs121909006	GRCh38	Chromosome 7, 117590360: 117590360
22	CFTR	NM_000492.3(CFTR): c.1624G> T (p.Gly542Ter)	single nucleotide variant	Pathogenic	rs113993959	GRCh37	Chromosome 7, 117227832: 117227832
23	CFTR	NM_000492.3(CFTR): c.3717+4A> G	single nucleotide variant	Pathogenic	rs387906362	GRCh38	Chromosome 7, 117627774: 117627774
24	CFTR	NM_000492.3(CFTR): c.1624G> T (p.Gly542Ter)	single nucleotide variant	Pathogenic	rs113993959	GRCh38	Chromosome 7, 117587778: 117587778
25	CFTR	NM_000492.3(CFTR): c.1646G> A (p.Ser549Asn)	single nucleotide variant	Pathogenic,drug response	rs121908755	GRCh37	Chromosome 7, 117227854: 117227854
26	CFTR	NM_000492.3(CFTR): c.1646G> A (p.Ser549Asn)	single nucleotide variant	Pathogenic,drug response	rs121908755	GRCh38	Chromosome 7, 117587800: 117587800
27	CFTR	NM_000492.3(CFTR): c.1646G> T (p.Ser549Ile)	single nucleotide variant	Pathogenic	rs121908755	GRCh37	Chromosome 7, 117227854: 117227854
28	CFTR	NM_000492.3(CFTR): c.1646G> T (p.Ser549Ile)	single nucleotide variant	Pathogenic	rs121908755	GRCh38	Chromosome 7, 117587800: 117587800
29	CFTR	NM_000492.3(CFTR): c.1647T> G (p.Ser549Arg)	single nucleotide variant	Pathogenic,drug response	rs121909005	GRCh37	Chromosome 7, 117227855: 117227855
30	CFTR	NM_000492.3(CFTR): c.1647T> G (p.Ser549Arg)	single nucleotide variant	Pathogenic,drug response	rs121909005	GRCh38	Chromosome 7, 117587801: 117587801
31	CFTR	NM_000492.3(CFTR): c.1721C> A (p.Pro574His)	single nucleotide variant	Likely pathogenic	rs121908758	GRCh37	Chromosome 7, 117230448: 117230448
32	CFTR	NM_000492.3(CFTR): c.1721C> A (p.Pro574His)	single nucleotide variant	Likely pathogenic	rs121908758	GRCh38	Chromosome 7, 117590394: 117590394
33	CFTR	NM_000492.3(CFTR): c.1652G> A (p.Gly551Asp)	single nucleotide variant	Pathogenic	rs75527207	GRCh37	Chromosome 7, 117227860: 117227860
34	CFTR	NM_000492.3(CFTR): c.1652G> A (p.Gly551Asp)	single nucleotide variant	Pathogenic	rs75527207	GRCh38	Chromosome 7, 117587806: 117587806
35	CFTR	NM_000492.3(CFTR): c.1657C> T (p.Arg553Ter)	single nucleotide variant	Pathogenic	rs74597325	GRCh37	Chromosome 7, 117227865: 117227865
36	CFTR	NM_000492.3(CFTR): c.1657C> T (p.Arg553Ter)	single nucleotide variant	Pathogenic	rs74597325	GRCh38	Chromosome 7, 117587811: 117587811
37	CFTR	NM_000492.3(CFTR): c.1675G> A (p.Ala559Thr)	single nucleotide variant	Pathogenic	rs75549581	GRCh37	Chromosome 7, 117227883: 117227883
38	CFTR	NM_000492.3(CFTR): c.1675G> A (p.Ala559Thr)	single nucleotide variant	Pathogenic	rs75549581	GRCh38	Chromosome 7, 117587829: 117587829
39	CFTR	NM_000492.3(CFTR): c.3659delC (p.Thr1220Lysfs)	deletion	Pathogenic	rs121908811	GRCh37	Chromosome 7, 117267766: 117267766
40	CFTR	NM_000492.3(CFTR): c.3659delC (p.Thr1220Lysfs)	deletion	Pathogenic	rs121908811	GRCh38	Chromosome 7, 117627712: 117627712
41	CFTR	NM_000492.3(CFTR): c.3764C> A (p.Ser1255Ter)	single nucleotide variant	Pathogenic	rs76649725	GRCh37	Chromosome 7, 117282538: 117282538
42	CFTR	NM_000492.3(CFTR): c.3764C> A (p.Ser1255Ter)	single nucleotide variant	Pathogenic	rs76649725	GRCh38	Chromosome 7, 117642484: 117642484
43	CFTR	NM_000492.3(CFTR): c.2538G> A (p.Trp846Ter)	single nucleotide variant	Pathogenic	rs267606722	GRCh37	Chromosome 7, 117235031: 117235031
44	CFTR	NM_000492.3(CFTR): c.2538G> A (p.Trp846Ter)	single nucleotide variant	Pathogenic	rs267606722	GRCh38	Chromosome 7, 117594977: 117594977
45	CFTR	NM_000492.3(CFTR): c.2738A> G (p.Tyr913Cys)	single nucleotide variant	Pathogenic	rs121909008	GRCh37	Chromosome 7, 117243666: 117243666
46	CFTR	NM_000492.3(CFTR): c.2738A> G (p.Tyr913Cys)	single nucleotide variant	Pathogenic	rs121909008	GRCh38	Chromosome 7, 117603612: 117603612
47	CFTR	NM_000492.3(CFTR): c.3846G> A (p.Trp1282Ter)	single nucleotide variant	Pathogenic	rs77010898	GRCh37	Chromosome 7, 117282620: 117282620
48	CFTR	NM_000492.3(CFTR): c.3846G> A (p.Trp1282Ter)	single nucleotide variant	Pathogenic	rs77010898	GRCh38	Chromosome 7, 117642566: 117642566
49	CFTR	NM_000492.3(CFTR): c.1373G> T (p.Gly458Val)	single nucleotide variant	Pathogenic	rs121909009	GRCh37	Chromosome 7, 117188858: 117188858
50	CFTR	NM_000492.3(CFTR): c.1373G> T (p.Gly458Val)	single nucleotide variant	Pathogenic	rs121909009	GRCh38	Chromosome 7, 117548804: 117548804

Copy number variations for Cystic Fibrosis from CNVD:

⁷

#	CNVD ID	Chromosom	Start	End	Type	Gene Symbol	CNVD Disease
1	218757	7	116907252	117095954	Deletion	CFTR	Cystic fibrosis
2	218758	7	116907252	117095954	Deletion	CFTR	Cystic fibrosis
3	233764	8	127300000	131500000	Copy number	L1	Cystic fibrosis

Sources

Expression for Cystic Fibrosis

Genes differentially expressed in tissues of Cystic Fibrosis patients vs. healthy controls: ³⁵

#	Gene	Description	Tissue	Up/Dn	Fold Change (log2)	P value
1	ALDOB	aldolase B, fructose-bisphosphate	Epithelial Cells	+	3.08	0.000

Search GEO for disease gene expression data for Cystic Fibrosis.

Sources

Pathways for Cystic Fibrosis

Pathways related to Cystic Fibrosis according to KEGG:

³⁷

#	Name	Kegg Source Accession
1	ABC transporters	hsa02010

Pathways related to Cystic Fibrosis according to GeneCards Suite gene sharing:

(show all 12)

#	Super pathways	Score	Top Affiliating Genes
1	Ion channel transport ⁶⁶ Show member pathways Stimuli-sensing channels ⁶⁶	12.26	CLCA1 CLCA4 SCNN1A SCNN1B SCNN1G
2	Neuropathic Pain-Signaling in Dorsal Horn Neurons ⁶⁴ Show member pathways Aldosterone Signaling in Epithelial Cells ⁶⁴ Cholera Infection ⁶⁴	12.22	CFTR CLCA1 CLCA4 SCNN1A SCNN1B SCNN1G
3	Defensins ⁶⁶ Show member pathways Alpha-defensins ⁶⁶ Antimicrobial peptides ⁶⁶ Beta defensins ⁶⁶ Ion influx/efflux at host-pathogen interface ⁶⁶ Metal sequestration by antimicrobial proteins ⁶⁶	12.09	DEFB1 ELANE S100A8 S100A9
4	IL-17 Family Signaling Pathways ⁶⁵ Show member pathways IL17 signaling pathway ¹ IL-17 signaling pathway ³⁷ Interleukin-17 signaling ⁶⁶ Mucin expression in CF via IL-6, IL-17 signaling pathways ²²	12.04	CFTR CXCL8 S100A8 S100A9
5	Taste transduction ³⁷ Show member pathways Class C/3 (Metabotropic glutamate/pheromone receptors) ⁶⁶	11.78	SCNN1A SCNN1B SCNN1G
6	Spinal Cord Injury ¹	11.75	CXCL8 FCGR2A TGFB1
7	Pancreatic secretion ³⁷	11.64	CFTR CLCA1 CLCA4
8	Cytokine production by Th17 cells in CF (Mouse model) ²² Show member pathways Cytokine production by Th17 cells in CF ²²	11.6	CFTR CXCL8 TGFB1
9	Aldosterone-regulated sodium reabsorption ³⁷	11.07	SCNN1A SCNN1B SCNN1G
10	Diuretics Pathway, Pharmacodynamics ⁶¹	10.9	SCNN1A SCNN1B SCNN1G
11	CFTR-dependent regulation of ion channels in Airway Epithelium (norm and CF) ²²	10.57	CFTR SCNN1A SCNN1B SCNN1G SLC9A3R1
12	NO-dependent CFTR activation (normal and CF) ²²	10.37	CFTR SCNN1A SCNN1B SCNN1G

Sources

GO Terms for Cystic Fibrosis

Cellular components related to Cystic Fibrosis according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	integral component of plasma membrane	GO:0005887	9.98	CFTR CLCA1 CLCA4 SCNN1A SCNN1B SCNN1G
2	apical plasma membrane	GO:0016324	9.63	CFTR CLCA4 SCNN1A SCNN1B SCNN1G SLC9A3R1
3	microvillus	GO:0005902	9.58	CLCA1 SLC9A3R1 TGFB1
4	secretory granule	GO:0030141	9.56	CLCA1 ELANE STX1A TGFB1
5	sperm midpiece	GO:0097225	9.46	DEFB1 SLC9A3R1
6	extracellular exosome	GO:0070062	9.44	CFTR CLCA4 DEFB1 DNAJC5 DNASE1 ELANE
7	sodium channel complex	GO:0034706	9.13	SCNN1A SCNN1B SCNN1G
8	plasma membrane	GO:0005886	10.17	CFTR CLCA1 CLCA4 DNAJC5 FCGR2A GUCY2C
9	extracellular region	GO:0005576	10.07	CLCA1 CLCA4 CXCL8 DEFB1 DNASE1 ELANE

Biological processes related to Cystic Fibrosis according to GeneCards Suite gene sharing:

(show all 23)

#	Name	GO ID	Score	Top Affiliating Genes
1	neutrophil degranulation	GO:0043312	9.97	DNAJC5 ELANE FCGR2A S100A8 S100A9
2	defense response to bacterium	GO:0042742	9.86	DEFB1 ELANE S100A8 S100A9
3	ion transmembrane transport	GO:0034220	9.85	CLCA1 CLCA4 SCNN1A SCNN1B SCNN1G
4	chemotaxis	GO:0006935	9.84	CXCL8 DEFB1 S100A8 S100A9
5	chloride transmembrane transport	GO:1902476	9.77	CFTR CLCA1 CLCA4
6	sodium ion transmembrane transport	GO:0035725	9.77	SCNN1A SCNN1B SCNN1G
7	chloride transport	GO:0006821	9.75	CFTR CLCA1 CLCA4
8	neutrophil chemotaxis	GO:0030593	9.72	CXCL8 S100A8 S100A9
9	sensory perception of taste	GO:0050909	9.69	SCNN1A SCNN1B SCNN1G
10	astrocyte development	GO:0014002	9.61	S100A8 S100A9
11	positive regulation of intrinsic apoptotic signaling pathway	GO:2001244	9.61	S100A8 S100A9 SLC9A3R1
12	nuclear migration	GO:0007097	9.58	DCTN4 SLC9A3R1
13	defense response to fungus	GO:0050832	9.54	ELANE S100A8 S100A9
14	peptidyl-cysteine S-nitrosylation	GO:0018119	9.52	S100A8 S100A9
15	positive regulation of peptide secretion	GO:0002793	9.49	S100A8 S100A9
16	sequestering of zinc ion	GO:0032119	9.48	S100A8 S100A9
17	antimicrobial humoral response	GO:0019730	9.46	DEFB1 ELANE S100A8 S100A9
18	sodium ion homeostasis	GO:0055078	9.43	SCNN1A SCNN1B SCNN1G
19	chemokine production	GO:0032602	9.4	S100A8 S100A9
20	neutrophil aggregation	GO:0070488	9.32	S100A8 S100A9
21	leukocyte migration involved in inflammatory response	GO:0002523	9.13	ELANE S100A8 S100A9
22	multicellular organismal water homeostasis	GO:0050891	8.92	CFTR SCNN1A SCNN1B SCNN1G
23	ion transport	GO:0006811	10.01	CFTR CLCA1 SCNN1A SCNN1B SCNN1G

Molecular functions related to Cystic Fibrosis according to GeneCards Suite gene sharing:

(show all 11)

#	Name	GO ID	Score	Top Affiliating Genes
1	protein N-terminus binding	GO:0047485	9.65	DCTN4 STX1A TGFB1
2	chloride channel activity	GO:0005254	9.61	CFTR CLCA1 CLCA4
3	intracellular calcium activated chloride channel activity	GO:0005229	9.49	CLCA1 CLCA4
4	RAGE receptor binding	GO:0050786	9.46	S100A8 S100A9
5	chloride channel inhibitor activity	GO:0019869	9.4	CFTR STX1A
6	chloride channel regulator activity	GO:0017081	9.37	CFTR SLC9A3R1
7	ATP-dependent protein binding	GO:0043008	9.32	DNAJC5 STX1A
8	arachidonic acid binding	GO:0050544	9.26	S100A8 S100A9
9	Toll-like receptor 4 binding	GO:0035662	9.16	S100A8 S100A9
10	WW domain binding	GO:0050699	9.13	SCNN1A SCNN1B SCNN1G
11	ligand-gated sodium channel activity	GO:0015280	8.8	SCNN1A SCNN1B SCNN1G

Sources

Sources for Cystic Fibrosis

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ ExPASy

¹⁸ FDA Approved Drugs

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia

Cystic Fibrosis

Aliases & Classifications for Cystic Fibrosis

MalaCards integrated aliases for Cystic Fibrosis:

Characteristics:

Orphanet epidemiological data:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Cystic Fibrosis

Related Diseases for Cystic Fibrosis

Diseases related to Cystic Fibrosis via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Cystic Fibrosis:

Symptoms & Phenotypes for Cystic Fibrosis

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Human phenotypes related to Cystic Fibrosis:

UMLS symptoms related to Cystic Fibrosis:

MGI Mouse Phenotypes related to Cystic Fibrosis:

Drugs & Therapeutics for Cystic Fibrosis

PubMedHealth treatment related to Cystic Fibrosis: 63

FDA approved drugs:

Drugs for Cystic Fibrosis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

Interventional clinical trials:

Inferred drug relations via UMLS 73 / NDF-RT 51 :

Cell-based therapeutics:

Cochrane evidence based reviews: cystic fibrosis

Genetic Tests for Cystic Fibrosis

Genetic tests related to Cystic Fibrosis:

Anatomical Context for Cystic Fibrosis

MalaCards organs/tissues related to Cystic Fibrosis:

Publications for Cystic Fibrosis

Articles related to Cystic Fibrosis:

Genes for Cystic Fibrosis

Genes/enhancers related to Cystic Fibrosis (6 elite genes):

Variations for Cystic Fibrosis

UniProtKB/Swiss-Prot genetic disease variations for Cystic Fibrosis:

ClinVar genetic disease variations for Cystic Fibrosis:

Copy number variations for Cystic Fibrosis from CNVD:

Expression for Cystic Fibrosis

Pathways for Cystic Fibrosis

Pathways related to Cystic Fibrosis according to KEGG:

Pathways related to Cystic Fibrosis according to GeneCards Suite gene sharing:

GO Terms for Cystic Fibrosis

Cellular components related to Cystic Fibrosis according to GeneCards Suite gene sharing:

Biological processes related to Cystic Fibrosis according to GeneCards Suite gene sharing:

Molecular functions related to Cystic Fibrosis according to GeneCards Suite gene sharing:

Sources for Cystic Fibrosis

PubMedHealth treatment related to Cystic Fibrosis: ⁶³

Inferred drug relations via UMLS ⁷³ / NDF-RT ⁵¹ :