CF
MCID: CYS001
MIFTS: 83

Cystic Fibrosis (CF) malady

Categories: Genetic diseases, Rare diseases, Metabolic diseases, Gastrointestinal diseases, Liver diseases, Reproductive diseases, Respiratory diseases, Endocrine diseases

Aliases & Classifications for Cystic Fibrosis

Aliases & Descriptions for Cystic Fibrosis:

Name: Cystic Fibrosis 54 38 12 71 50 24 25 56 66 29 13 52 41 42 14 69
Cf 12 71 50 24 25 56 66
Mucoviscidosis 12 50 24 25 56 66
Pseudomonas Aeruginosa Chronic Infection by, in Cystic Fibrosis 54
Cystic Fibrosis Lung Disease, Modifier of 54
Fibrocystic Disease of Pancreas 25
Cystic Fibrosis of Pancreas 25

Characteristics:

Orphanet epidemiological data:

56
cystic fibrosis
Inheritance: Autosomal recessive; Age of onset: All ages; Age of death: adult,young Adult;

HPO:

32
cystic fibrosis:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 219700
Disease Ontology 12 DOID:1485
ICD10 33 E84 E84.9
ICD9CM 35 277.0
MeSH 42 D003550
NCIt 47 C2975
Orphanet 56 ORPHA586
ICD10 via Orphanet 34 E84.0 E84.1 E84.8 more
MESH via Orphanet 43 D003550
UMLS via Orphanet 70 C0010674
MedGen 40 C0010674
UMLS 69 C0010674

Summaries for Cystic Fibrosis

MedlinePlus : 41 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 cf, is related to cystic fibrosis with helicobacter pylori gastritis, megaloblastic anemia, and mental retardation and follicular hamartoma-alopecia-cystic fibrosis syndrome, and has symptoms including recurrent respiratory infections, hepatomegaly and malabsorption. An important gene associated with Cystic Fibrosis is CFTR (Cystic Fibrosis Transmembrane Conductance Regulator), and among its related pathways/superpathways are Defensins and IL-17 Family Signaling Pathways. The drugs Cayston and Kalydeco have been mentioned in the context of this disorder. Affiliated tissues include Lung and Lung, and related phenotype is mortality/aging.

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

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.

NIH Rare Diseases : 50 cystic fibrosis (cf) is an inherited condition that causes mucus to build up and clog some of the organs in the body, particularly in the lungs and pancreas. when mucus clogs the lungs, it can make breathing very difficult. the thick mucus also causes bacteria to get stuck in the airways, which causes inflammation and infections. these infections can cause chronic coughing, and wheezing. over time, mucus buildup and infections can lead to permanent lung damage, including the formation of scar tissue (fibrosis) and cysts in the lungs. mucus can also block the digestive tract and pancreas, leading to digestive problems. cf is caused by mutations in the cftr gene and is inherited in an autosomal recessive pattern. last updated: 4/4/2013

OMIM : 54 Formerly known as cystic fibrosis of the pancreas, this entity has increasingly been labeled simply 'cystic fibrosis.'... (219700) more...

UniProtKB/Swiss-Prot : 66 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.

Wikipedia : 71 Cystic fibrosis (CF) is a genetic disorder that affects mostly the lungs, but also the pancreas, liver,... more...

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 342)
id Related Disease Score Top Affiliating Genes
1 cystic fibrosis with helicobacter pylori gastritis, megaloblastic anemia, and mental retardation 12.1
2 follicular hamartoma-alopecia-cystic fibrosis syndrome 11.9
3 cystic fibrosis and congenital absence of the vas deferens 11.9
4 bronchiectasis with or without elevated sweat chloride 2 11.6
5 bronchiectasis with or without elevated sweat chloride 1 11.5
6 bronchiectasis with or without elevated sweat chloride 3 11.5
7 congenital bilateral absence of vas deferens 11.4
8 allergic bronchopulmonary aspergillosis 11.4
9 meconium ileus 11.4
10 bronchiectasis 11.3
11 pancreatitis 11.3
12 aspergillosis 11.3
13 exocrine pancreatic insufficiency 11.2
14 stenotrophomonas maltophilia infection 11.1
15 respiratory failure 11.1
16 keratomalacia 11.1
17 shwachman-diamond syndrome 11.1
18 nontuberculous mycobacterial lung disease 11.1
19 lubani-al saleh-teebi syndrome 11.1
20 aquagenic syringeal acrokeratoderm 10.9
21 spinal muscular atrophy-1 10.8
22 spinal muscular atrophy-2 10.8
23 pseudohypoaldosteronism, type i 10.8
24 middle lobe syndrome 10.8
25 young syndrome 10.8
26 pancreatic ductal adenocarcinoma 10.6
27 lung disease 10.5
28 subcorneal pustular dermatosis 10.4 CFTR CXCL8 ELANE IFRD1 TGFB1
29 acute chest syndrome 10.4 CFTR CXCL8 ELANE TGFB1
30 chitotriosidase deficiency 10.4 CFTR TGFB1
31 coq7-related coenzyme q10 deficiency 10.4 CFTR TGFB1
32 fasciitis 10.4 CFTR CXCL8 ELANE
33 primary congenital glaucoma 10.4 CFTR PRSS1 SPINK1
34 familial renal papillary carcinoma 10.4 CFTR CXCL8 ELANE
35 malignant neoplasm of acoustic nerve 10.4 CXCL8 ELANE TGFB1
36 myxofibrosarcoma 10.4 CFTR PRSS1 SPINK1
37 netherton syndrome 10.4 CFTR ELANE PRSS1 SPINK1
38 cervical adenomyoma 10.4 CFTR PRSS1 SPINK1
39 thyroid gland disease 10.4 CFTR ELANE PRSS1 SPINK1
40 spontaneous ocular nystagmus 10.4 CXCL8 ELANE TGFB1
41 avoidant personality disorder 10.4 CFTR CXCL8 PLCZ1
42 ritscher-schinzel syndrome 1 10.3 CXCL8 S100A9
43 lacrimal system cancer 10.3 CXCL8 ELANE SPINK1
44 fibrosis of extraocular muscles, congenital, 3c 10.3 CFTR SPINK1
45 mycobacterium abscessus 10.3
46 liver disease 10.2
47 chromophobe renal cell carcinoma 10.2
48 renal oncocytoma 10.2
49 alcoholic hepatitis 10.2
50 bone fracture 10.2 CLCA1 CLCA4

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



Diseases related to Cystic Fibrosis

Symptoms & Phenotypes for Cystic Fibrosis

Symptoms by clinical synopsis from OMIM:

219700

Clinical features from OMIM:

219700

Human phenotypes related to Cystic Fibrosis:

56 32 (show all 21)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 recurrent respiratory infections 56 32 Very frequent (99-80%) HP:0002205
2 hepatomegaly 56 32 Occasional (29-5%) HP:0002240
3 malabsorption 56 32 Very frequent (99-80%) HP:0002024
4 pulmonary fibrosis 56 32 Very frequent (99-80%) HP:0002206
5 immunodeficiency 56 32 Very frequent (99-80%) HP:0002721
6 biliary cirrhosis 56 32 Very frequent (99-80%) HP:0002613
7 exocrine pancreatic insufficiency 56 32 Very frequent (99-80%) HP:0001738
8 decreased antibody level in blood 56 32 Very frequent (99-80%) HP:0004313
9 failure to thrive 32 HP:0001508
10 dehydration 32 HP:0001944
11 hypercalciuria 32 HP:0002150
12 asthma 32 HP:0002099
13 recurrent pneumonia 32 HP:0006532
14 rectal prolapse 32 HP:0002035
15 male infertility 32 HP:0003251
16 bronchiectasis 32 HP:0002110
17 recurrent bronchopulmonary infections 32 HP:0006538
18 chronic lung disease 32 HP:0006528
19 cor pulmonale 32 HP:0001648
20 elevated sweat chloride 32 HP:0012236
21 meconium ileus 32 HP:0004401

UMLS symptoms related to Cystic Fibrosis:


coughing, hemoptysis, snoring

MGI Mouse Phenotypes related to Cystic Fibrosis:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 9.4 TGFB1 CFTR DERL1 DNAJC5 DNASE1 ELANE

Drugs & Therapeutics for Cystic Fibrosis

FDA approved drugs:

id Drug Name Active Ingredient(s) 17 Company Approval Date
1
Cayston 17 AZTREONAM Gilead Approved February 2010
2
Kalydeco 17 IVACAFTOR Vertex Pharmaceuticals Approved January of 2012
3
Orkambi 17 IVACAFTOR; LUMACAFTOR Vertex Pharmaceuticals Approved July 2015
4
Pulmozyme 17 DORNASE ALFA Genentech Approved December 1996|Approved March 1998
5
Tobi 17 TOBRAMYCIN PathoGenesis Approved December 1997

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

(show top 50) (show all 460)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Mycophenolic acid Approved Phase 4,Phase 3 24280-93-1 446541
2
Mycophenolate mofetil Approved, Investigational Phase 4,Phase 3 128794-94-5 5281078
3
Azithromycin Approved Phase 4,Phase 3,Phase 2,Phase 1 83905-01-5 55185 53477736 447043
4
Tobramycin Approved, Investigational Phase 4,Phase 3,Phase 1,Phase 2 32986-56-4 5496 36294
5
Meropenem Approved, Investigational Phase 4 119478-56-7 64778 441130
6
Menthol Approved Phase 4,Phase 3,Phase 1 2216-51-5 16666
7
Ceftazidime Approved Phase 4,Phase 1 78439-06-2 5481173
8
Acetylcysteine Approved, Investigational Phase 4,Phase 2,Phase 1 616-91-1 12035
9
Insulin Glargine Approved Phase 4,Phase 3 160337-95-1
10
Aztreonam Approved Phase 4,Phase 3,Phase 2 78110-38-0 5362041 5742832
11
Nicotine Approved Phase 4 54-11-5 942 89594
12
Rifampin Approved Phase 4,Phase 2,Phase 1 13292-46-1 5458213 5381226
13
Tamoxifen Approved Phase 4 10540-29-1 2733526
14
Ciprofloxacin Approved, Investigational Phase 4,Phase 2,Phase 1 85721-33-1 2764
15
Alendronate Approved Phase 4,Phase 3 121268-17-5, 66376-36-1 2088
16
Miconazole Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 22916-47-8 4189
17
Fosfomycin Approved Phase 4,Phase 2 23155-02-4 446987
18
Doxycycline Approved, Investigational, Vet_approved Phase 4,Phase 2 564-25-0 54671203
19
Itraconazole Approved, Investigational Phase 4,Phase 2,Phase 1 84625-61-6 55283
20
Tazobactam Approved Phase 4 89786-04-9 123630
21
Piperacillin Approved Phase 4 66258-76-2 43672
22
Ticarcillin Approved, Vet_approved Phase 4 34787-01-4 36921
23
Colistin Approved Phase 4,Phase 2,Phase 1 1264-72-8, 1066-17-7 5311054
24 Avibactam Approved Phase 4 1192500-31-4
25
Altretamine Approved Phase 4,Phase 1 645-05-6 2123
26
Pancrelipase Approved Phase 4,Phase 3,Phase 2 53608-75-6
27
Cefepime Approved Phase 4 88040-23-7 5479537
28
Tacrolimus Approved, Investigational Phase 4 104987-11-3 445643 439492
29
Posaconazole Approved, Investigational, Vet_approved Phase 4 171228-49-2 147912
30
Omalizumab Approved, Investigational Phase 4 242138-07-4
31
Cholecalciferol Approved, Nutraceutical Phase 4,Phase 3,Phase 2,Phase 1 67-97-0 6221 10883523 5280795
32
Ergocalciferol Approved, Nutraceutical Phase 4,Phase 3,Phase 2,Phase 1 50-14-6 5280793
33 vitamin d Phase 4,Phase 3,Phase 2,Phase 1
34 insulin Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
35 Analgesics Phase 4,Phase 3,Phase 2,Phase 1
36 N-monoacetylcystine Phase 4,Phase 2,Phase 1
37 Gastrointestinal Agents Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
38 Cytochrome P-450 CYP3A Inhibitors Phase 4,Phase 2,Phase 1
39 Cytochrome P-450 Enzyme Inhibitors Phase 4,Phase 3,Phase 2,Phase 1
40 Analgesics, Non-Narcotic Phase 4,Phase 3,Phase 2,Phase 1
41 Trace Elements Phase 4,Phase 3,Phase 2,Phase 1
42 Hormone Antagonists Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1
43 Hormones Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1
44 Vaccines Phase 4
45 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 2,Phase 1
46 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1
47 Pharmaceutical Solutions Phase 4,Phase 3,Phase 2,Phase 1
48 Ergocalciferols Phase 4,Phase 3,Phase 2,Phase 1
49 Hypoglycemic Agents Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
50 Anti-Bacterial Agents Phase 4,Phase 3,Phase 2,Phase 1

Interventional clinical trials:

(show top 50) (show all 967)
id Name Status NCT ID Phase
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
3 The Use of Oral N-Acetyl Cysteine for the Treatment of Chronic Sinonasal Symptoms Unknown status NCT00866866 Phase 4
4 Evaluation and Reconditioning of Marginal Lung Donors to Transplantation by ex Vivo Lung Perfusion Unknown status NCT01353105 Phase 4
5 Backpack Carrying in Children With Cystic Fibrosis Completed NCT02700282 Phase 4
6 Cohort Study Evaluating the Clinical Effectiveness, Safety and Immunogenicity to the Pandemic Influenza Vaccination Completed NCT01499914 Phase 4
7 Pharmacokinetics of Piperacillin, Given as Continuous Infusion to Patients With Cystic Fibrosis Completed NCT01983787 Phase 4
8 Tobramycin 300 mg Once-a-day (o.d.) Aerosol in Adults With Cystic Fibrosis Completed NCT01608555 Phase 4
9 RhDNase and Biodistribution of PMN Serine Proteases in Cystic Fibrosis Sputum Completed NCT00843817 Phase 4
10 Comparison of 2 Treatment Regimens for Eradication of P Aeruginosa Infection in Children With Cystic Fibrosis Completed NCT01400750 Phase 4
11 Study of Long-term Treatment With Hypertonic Saline in Patients With Cystic Fibrosis Completed NCT01377792 Phase 4
12 Treatment of Aspergillus Fumigatus (a Fungal Infection) in Patients With Cystic Fibrosis Completed NCT00528190 Phase 4
13 Should Any One Airway Clearance Technique be Recommended for People With Cystic Fibrosis? Completed NCT00890370 Phase 4
14 Circadian Rhythm In Tobramycin Elimination In Cystic Fibrosis Completed NCT01207245 Phase 4
15 The Effect of rhDNase on Ventilation Inhomogeneity in Patients With Cystic Fibrosis Completed NCT00557089 Phase 4
16 Effect of Lactobacillus Reuteri in Cystic Fibrosis Completed NCT01737983 Phase 4
17 Comparison of Absorption of Vitamin D in Cystic Fibrosis Completed NCT01880346 Phase 4
18 Effect of Azithromycin on Lung Function in 6-18 Year-olds With Cystic Fibrosis (CF) Not Infected With P. Aeruginosa Completed NCT00431964 Phase 4
19 Comparison of Airway Clearance Therapy in Cystic Fibrosis Using the Same VEST Therapy Device But With Different Settings Completed NCT00685035 Phase 4
20 Doxycycline Effects on Inflammation in Cystic Fibrosis Completed NCT01323101 Phase 4
21 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
22 Long Term Safety of Tobramycin Inhalation Powder in Patients With Cystic Fibrosis Completed NCT01519661 Phase 4
23 Scandinavian Cystic Fibrosis Azithromycin Study Completed NCT00411736 Phase 4
24 Control of Steatorrhea in Participants With Cystic Fibrosis and Exocrine Pancreatic Insufficiency Completed NCT01327703 Phase 4
25 Population Pharmacokinetics of Prolonged Infusion Meropenem in Cystic Fibrosis (CF) Children Completed NCT01429259 Phase 4
26 Cystic Fibrosis and Totally Implantable Vascular Access Devices Completed NCT00244270 Phase 4
27 Study of Alendronate to Prevent and Treat Osteoporosis in Cystic Fibrosis Patients Completed NCT00157690 Phase 4
28 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
29 Study to Validate the Instructions for Use of TOBI® Podhaler™ in Cystic Fibrosis Patients Completed NCT02178540 Phase 4
30 Population Pharmacokinetics and Safety of Intravenous Ceftolozane/Tazobactam in Adult Cystic Fibrosis Patients Completed NCT02421120 Phase 4
31 One Year Glargine Treatment in CFRD Children and Adolescents Completed NCT00483769 Phase 4
32 Steady-state Pharmacokinetics of Ceftazidime/Avibactam in Cystic Fibrosis Completed NCT02504827 Phase 4
33 PR-018: An Open-Label, Safety Extension of Study PR-011 Completed NCT01131507 Phase 4
34 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
35 Malabsorption Blood Test:Toward a Novel Approach to Quantify Steatorrhea Completed NCT00572975 Phase 4
36 Electro Flo 5000 and Vest Therapy Completed NCT02277626 Phase 4
37 Clinical Study With an Enteral Formula With Symbiotic and DHA for Malnourished Children Completed NCT02128984 Phase 4
38 Assessment of Response to Treatment of Osteoporosis With Oral Bisphosphonates in Patients With Muscular Dystrophy Completed NCT01882400 Phase 4
39 Ext. Long-term Safety Study in CF Patients: Single Arm TIP Completed NCT01775137 Phase 4
40 Effectiveness and Safety of Inhaling Hypertonic Saline in Patients With Chronic Obstructive Pulmonary Disease Completed NCT00639236 Phase 4
41 Effects of Tamoxifen in Premenopausal Women With Benign Breast Disease Not at High-Risk of Developing Breast Cancer Completed NCT00999921 Phase 4
42 Pharmacokinetics of Tedizolid Phosphate in Cystic Fibrosis Recruiting NCT02444234 Phase 4
43 Aztreonam for Inhalation Solution (AZLI) for the Treatment of Exacerbations of Cystic Fibrosis Recruiting NCT02894684 Phase 4
44 EASY: Extended Access to Sollpura Over Years Recruiting NCT02823964 Phase 4
45 Standardized Treatment of Pulmonary Exacerbations II Recruiting NCT02781610 Phase 4
46 Testing the Effect of Adding Chronic Oral Azithromycin to Inhaled Tobramycin in People With CF Recruiting NCT02677701 Phase 4
47 Effects of a Partially Supervised Conditioning Program in CF Recruiting NCT01744561 Phase 4
48 A Pilot Study to Evaluate the Use of Smart Adherence Technology to Measure Lumacaftor/Ivacaftor Adherence in CF Subjects Homozygous for the F508del CFTR Mutation Recruiting NCT02823470 Phase 4
49 IV Colistin for Pulmonary Exacerbations: Improving Safety and Efficacy Recruiting NCT02918409 Phase 4
50 A Clinical Study on the Efficacy and Safety of the Treatment of Hyperplasia of Mammary Glands With Xiaoru Sanjie Capsule Recruiting NCT02929420 Phase 4

Search NIH Clinical Center for Cystic Fibrosis

Inferred drug relations via UMLS 69 / NDF-RT 48 :


Cell-based therapeutics:


LifeMap Discovery
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

Genetic Tests for Cystic Fibrosis

Genetic tests related to Cystic Fibrosis:

id Genetic test Affiliating Genes
1 Cystic Fibrosis 29 24 CFTR

Anatomical Context for Cystic Fibrosis

MalaCards organs/tissues related to Cystic Fibrosis:

39
Lung, Pancreas, Testes, Liver, Neutrophil, Colon, Bone
LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

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

Publications for Cystic Fibrosis

Articles related to Cystic Fibrosis:

(show top 50) (show all 3783)
id Title Authors Year
1
Microbial Dysbiosis in Bronchiectasis and Cystic Fibrosis. ( 28069292 )
2017
2
Six-Minute Walk Test Results Predict Risk of Hospitalization for Youths with Cystic Fibrosis: A 5-Year Follow-Up Study. ( 28087053 )
2017
3
In vivo and in vitro ivacaftor response in cystic fibrosis patients with residual CFTR function: N-of-1 studies. ( 28068001 )
2017
4
End-stage cystic fibrosis lung disease is characterised by a diverse inflammatory pattern: an immunohistochemical analysis. ( 28069067 )
2017
5
sTREM-1 is elevated in cystic fibrosis and correlates with proteases. ( 28068000 )
2017
6
Does newborn screening influence the young cystic fibrosis cohort included in national registries? ( 28077474 )
2017
7
EIT based pulsatile impedance monitoring during spontaneous breathing in cystic fibrosis. ( 28530203 )
2017
8
Cysteamine re-establishes the clearance of Pseudomonas aeruginosa by macrophages bearing the cystic fibrosis-relevant F508del-CFTR mutation. ( 28079883 )
2017
9
Clostridium difficile infection in cystic fibrosis: an uncommon but life-threatening complication. ( 28078087 )
2017
10
Serum Albumin and Disease Severity of Non-Cystic Fibrosis Bronchiectasis. ( 28512120 )
2017
11
Airway Clearance Techniques for Primary Ciliary Dyskinesia; is the Cystic Fibrosis literature portable? ( 28408202 )
2017
12
Two Small Molecules Restore Stability to a Sub-population of the Cystic Fibrosis Transmembrane conductance Regulator with the Predominant Disease-causing Mutation. ( 28087700 )
2017
13
Lung function imaging methods in Cystic Fibrosis pulmonary disease. ( 28514950 )
2017
14
A mast cell-ILC2-Th9 pathway promotes lung inflammation in cystic fibrosis. ( 28090087 )
2017
15
Factors influencing the need for endoscopic sinus surgery in adult patients with cystic fibrosis. ( 28234153 )
2017
16
Distal intestinal obstruction syndrome and colonic pathologies in cystic fibrosis. ( 28067560 )
2017
17
Draft genome sequence of an aminoglycoside-resistant RmtG-producing Pseudomonas aeruginosa ST235 isolated from a cystic fibrosis patient. ( 28082143 )
2017
18
Mechanisms of intrinsic resistance and acquired susceptibility of Pseudomonas aeruginosa isolated from cystic fibrosis patients to temocillin, a revived antibiotic. ( 28091521 )
2017
19
Genomic information on multidrug-resistant livestock-associated methicillin-resistant Staphylococcus aureus ST398 isolated from a Brazilian patient with cystic fibrosis. ( 28076471 )
2017
20
Treatment decisions for MRSA in patients with cystic fibrosis (CF): when is enough, enough? ( 28077615 )
2017
21
Diagnosis of bronchiectasis and airway wall thickening in children with cystic fibrosis: Objective airway-artery quantification. ( 28523349 )
2017
22
Case series of omalizumab for allergic bronchopulmonary aspergillosis in cystic fibrosis patients. ( 27717223 )
2017
23
Body composition and lung function in children with cystic fibrosis and meconium ileus. ( 28409283 )
2017
24
Effects of treadmill exercise versus FlutterAr on respiratory flow and sputum properties in adults with cystic fibrosis: a randomised, controlled, cross-over trial. ( 28077104 )
2017
25
Early Lung Function Decline in Cystic Fibrosis: Can Registry Data Explain Divergent Phenotypes? ( 28504907 )
2017
26
Palivizumab prophylaxis in infants with cystic fibrosis does not delay first isolation of Pseudomonas aeruginosa or Staphylococcus aureus. ( 28508992 )
2017
27
Scedosporium apiospermum complex in cystic fibrosis; should we treat? ( 28504471 )
2017
28
Direct measurement of trafficking of the cystic fibrosis transmembrane conductance regulator to the cell surface and binding to a chemical chaperone. ( 28001373 )
2017
29
Investigating the feasibility of text message reminders to improve adherence to nebulized medication in children and adolescents with cystic fibrosis. ( 28507430 )
2017
30
The Vitamin D for Enhancing the Immune System in Cystic Fibrosis (DISC) trial: Rationale and design of a multi-center, double-blind, placebo-controlled trial of high dose bolus administration of vitamin D3 during acute pulmonary exacerbation of cystic fibrosis. ( 28508087 )
2017
31
Multidrug-resistant Mycobacterium abscessus threatens patients with cystic fibrosis. ( 27956215 )
2017
32
Allergic Bronchopulmonary Aspergillosis in Cystic Fibrosis: MR Imaging of Airway Mucus Contrasts as a Tool for Diagnosis. ( 28530849 )
2017
33
Aspergillus Species in Bronchiectasis: Challenges in the Cystic Fibrosis and Non-cystic Fibrosis Airways. ( 28516246 )
2017
34
Ciprofloxacin-loaded lipid-core nanocapsules as mucus penetrating drug delivery system intended for the treatment of bacterial infections in cystic fibrosis. ( 28499793 )
2017
35
Early childhood lung function is a stronger predictor of adolescent lung function in cystic fibrosis than early Pseudomonas aeruginosa infection. ( 28505188 )
2017
36
Increasing Total Serum IgE, Allergic Bronchopulmonary Aspergillosis, and Lung Function in Cystic Fibrosis. ( 28526275 )
2017
37
Real-life acute lung function changes after lumacaftor/ivacaftor first administration in pediatric patients with cystic fibrosis. ( 28529073 )
2017
38
Lung structure and function similarities between primary ciliary dyskinesia and mild cystic fibrosis: a pilot study. ( 28403885 )
2017
39
Cystic fibrosis carriership and tuberculosis: hints toward an evolutionary selective advantage based on data from the Brazilian territory. ( 28499359 )
2017
40
Acquired resistance to macrolides in Pseudomonas aeruginosa from cystic fibrosis patients. ( 28526799 )
2017
41
Role of IRE1I+/XBP-1 in Cystic Fibrosis Airway Inflammation. ( 28075361 )
2017
42
Successful outcome following pneumonectomy in a teenage boy with cystic fibrosis: a case report. ( 28086849 )
2017
43
Aspergillus fumigatus in cystic fibrosis: an update on immune interactions and molecular diagnostics in ABPA. ( 28513848 )
2017
44
Two cases of non-cystic fibrosis (CF) bronchiectasis with allergic bronchopulmonary aspergillosis. ( 28053855 )
2017
45
Body Sanctification and Sleep in Adolescents with Cystic Fibrosis: A Pilot Study. ( 28516396 )
2017
46
Cystic fibrosis transmembrane conductance regulator mediates tenogenic differentiation of tendon-derived stem cells and tendon repair: accelerating tendon injury healing by intervening in its downstream signaling. ( 28495756 )
2017
47
Blood basophil activation is a reliable biomarker of allergic bronchopulmonary aspergillosis in cystic fibrosis. ( 26585435 )
2016
48
Multidrug-Resistant Pseudomonas aeruginosa Infection in a Child with Cystic Fibrosis. ( 27664282 )
2016
49
Benign and Deleterious Cystic Fibrosis Transmembrane Conductance Regulator Mutations Identified by Sequencing in Positive Cystic Fibrosis Newborn Screen Children from California. ( 27214204 )
2016
50
Changes of CFTR functional measurements and clinical improvements in cystic fibrosis patients with non p.Gly551Asp gating mutations treated with ivacaftor. ( 27659740 )
2016

Variations for Cystic Fibrosis

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

66 (show top 50) (show all 133)
id 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.Asp44Gly VAR_000105 rs1800074
5 CFTR p.Trp57Gly VAR_000108 rs397508272
6 CFTR p.Pro67Leu VAR_000109 rs368505753
7 CFTR p.Arg74Trp VAR_000110 rs115545701
8 CFTR p.Gly85Glu VAR_000112 rs75961395
9 CFTR p.Phe87Leu VAR_000113 rs397508403
10 CFTR p.Gly91Arg VAR_000114 rs121908750
11 CFTR p.Glu92Lys VAR_000115 rs121908751
12 CFTR p.Gln98Arg VAR_000116 rs397508464
13 CFTR p.Ile105Ser VAR_000117
14 CFTR p.Tyr109Cys VAR_000118 rs121909031
15 CFTR p.Asp110His VAR_000119 rs113993958
16 CFTR p.Arg117Cys VAR_000121 rs77834169
17 CFTR p.Arg117His VAR_000122 rs78655421
18 CFTR p.Arg117Leu VAR_000123 rs78655421
19 CFTR p.Arg117Pro VAR_000124 rs78655421
20 CFTR p.Ala120Thr VAR_000125 rs201958172
21 CFTR p.His139Arg VAR_000126 rs76371115
22 CFTR p.Ala141Asp VAR_000127 rs397508700
23 CFTR p.Ile148Thr VAR_000128 rs35516286
24 CFTR p.Gly178Arg VAR_000130 rs80282562
25 CFTR p.Glu193Lys VAR_000132 rs397508759
26 CFTR p.His199Gln VAR_000133 rs397508765
27 CFTR p.His199Tyr VAR_000134 rs121908802
28 CFTR p.Pro205Ser VAR_000135 rs121908803
29 CFTR p.Leu206Trp VAR_000136 rs121908752
30 CFTR p.Cys225Arg VAR_000137 rs397508780
31 CFTR p.Asn287Tyr VAR_000140 rs397508804
32 CFTR p.Arg297Gln VAR_000141 rs143486492
33 CFTR p.Tyr301Cys VAR_000142 rs150691494
34 CFTR p.Ser307Asn VAR_000143 rs397508817
35 CFTR p.Phe311Leu VAR_000144 rs121909016
36 CFTR p.Gly314Glu VAR_000146 rs75763344
37 CFTR p.Gly314Arg VAR_000147 rs397508819
38 CFTR p.Arg334Trp VAR_000148 rs121909011
39 CFTR p.Ile336Lys VAR_000150 rs397508139
40 CFTR p.Thr338Ile VAR_000151 rs77409459
41 CFTR p.Leu346Pro VAR_000152 rs397508146
42 CFTR p.Arg347His VAR_000153 rs77932196
43 CFTR p.Arg347Leu VAR_000154 rs77932196
44 CFTR p.Arg347Pro VAR_000155 rs77932196
45 CFTR p.Arg352Gln VAR_000156 rs121908753
46 CFTR p.Gln359Lys VAR_000157 rs76879328
47 CFTR p.Ala455Glu VAR_000160 rs74551128
48 CFTR p.Val456Phe VAR_000161 rs397508195
49 CFTR p.Gly458Val VAR_000162 rs121909009
50 CFTR p.Gly480Cys VAR_000165 rs79282516

ClinVar genetic disease variations for Cystic Fibrosis:

6 (show top 50) (show all 393)
id Gene Variation Type Significance SNP ID Assembly Location
1 CFTR NM_000492.3(CFTR): c.1521_1523delCTT (p.Phe508delPhe) deletion Pathogenic rs113993960 GRCh37 Chromosome 7, 117199646: 117199648
2 CFTR NM_000492.3(CFTR): c.1519_1521delATC (p.Ile507del) deletion Pathogenic rs121908745 GRCh37 Chromosome 7, 117199644: 117199646
3 CFTR NM_000492.3(CFTR): c.1477C> T (p.Gln493Ter) single nucleotide variant Pathogenic rs77101217 GRCh37 Chromosome 7, 117199602: 117199602
4 CFTR NM_000492.3(CFTR): c.328G> C (p.Asp110His) single nucleotide variant Pathogenic rs113993958 GRCh37 Chromosome 7, 117171007: 117171007
5 CFTR NM_000492.3(CFTR): c.350G> A (p.Arg117His) single nucleotide variant Pathogenic rs78655421 GRCh37 Chromosome 7, 117171029: 117171029
6 CFTR NM_000492.3(CFTR): c.3764C> A (p.Ser1255Ter) single nucleotide variant Pathogenic rs76649725 GRCh38 Chromosome 7, 117642484: 117642484
7 CFTR NM_000492.3(CFTR): c.1040G> C (p.Arg347Pro) single nucleotide variant Pathogenic rs77932196 GRCh37 Chromosome 7, 117180324: 117180324
8 CFTR NM_000492.3(CFTR): c.1364C> A (p.Ala455Glu) single nucleotide variant Pathogenic rs74551128 GRCh37 Chromosome 7, 117188849: 117188849
9 CFTR NM_000492.3(CFTR): c.1585-1G> A single nucleotide variant Pathogenic rs76713772 GRCh37 Chromosome 7, 117227792: 117227792
10 CFTR NM_000492.3(CFTR): c.1679G> C (p.Arg560Thr) single nucleotide variant Pathogenic rs80055610 GRCh37 Chromosome 7, 117227887: 117227887
11 CFTR NM_000492.3(CFTR): c.1687T> A (p.Tyr563Asn) single nucleotide variant Pathogenic rs121909006 GRCh37 Chromosome 7, 117230414: 117230414
12 CFTR NM_000492.3(CFTR): c.1624G> T (p.Gly542Ter) single nucleotide variant Pathogenic rs113993959 GRCh37 Chromosome 7, 117227832: 117227832
13 CFTR NM_000492.3(CFTR): c.1646G> A (p.Ser549Asn) single nucleotide variant Pathogenic,drug response rs121908755 GRCh37 Chromosome 7, 117227854: 117227854
14 CFTR NM_000492.3(CFTR): c.1646G> T (p.Ser549Ile) single nucleotide variant Pathogenic rs121908755 GRCh37 Chromosome 7, 117227854: 117227854
15 CFTR NM_000492.3(CFTR): c.1647T> G (p.Ser549Arg) single nucleotide variant Pathogenic,drug response rs121909005 GRCh37 Chromosome 7, 117227855: 117227855
16 CFTR NM_000492.3(CFTR): c.1721C> A (p.Pro574His) single nucleotide variant Pathogenic/Likely pathogenic rs121908758 GRCh37 Chromosome 7, 117230448: 117230448
17 CFTR NM_000492.3(CFTR): c.1652G> A (p.Gly551Asp) single nucleotide variant Pathogenic rs75527207 GRCh37 Chromosome 7, 117227860: 117227860
18 CFTR NM_000492.3(CFTR): c.1657C> T (p.Arg553Ter) single nucleotide variant Pathogenic rs74597325 GRCh37 Chromosome 7, 117227865: 117227865
19 CFTR NM_000492.3(CFTR): c.1675G> A (p.Ala559Thr) single nucleotide variant Pathogenic rs75549581 GRCh37 Chromosome 7, 117227883: 117227883
20 CFTR NM_000492.3(CFTR): c.3659delC (p.Thr1220Lysfs) deletion Pathogenic rs121908811 GRCh37 Chromosome 7, 117267766: 117267766
21 CFTR NM_000492.3(CFTR): c.2538G> A (p.Trp846Ter) single nucleotide variant Pathogenic rs267606722 GRCh37 Chromosome 7, 117235031: 117235031
22 CFTR NM_000492.3(CFTR): c.2738A> G (p.Tyr913Cys) single nucleotide variant Pathogenic rs121909008 GRCh37 Chromosome 7, 117243666: 117243666
23 CFTR NM_000492.3(CFTR): c.3846G> A (p.Trp1282Ter) single nucleotide variant Pathogenic rs77010898 GRCh37 Chromosome 7, 117282620: 117282620
24 CFTR NM_000492.3(CFTR): c.1373G> T (p.Gly458Val) single nucleotide variant Pathogenic rs121909009 GRCh37 Chromosome 7, 117188858: 117188858
25 CFTR NM_000492.3(CFTR): c.3947G> A (p.Trp1316Ter) single nucleotide variant Pathogenic rs121909010 GRCh37 Chromosome 7, 117292969: 117292969
26 CFTR NM_000492.3(CFTR): c.1021_1022dupTC (p.Phe342Hisfs) duplication Pathogenic rs387906360 GRCh37 Chromosome 7, 117180305: 117180306
27 CFTR NM_000492.3(CFTR): c.1081delT (p.Trp361Glyfs) deletion Pathogenic rs387906361 GRCh37 Chromosome 7, 117180365: 117180365
28 CFTR NM_000492.3(CFTR): c.3909C> G (p.Asn1303Lys) single nucleotide variant Pathogenic rs80034486 GRCh37 Chromosome 7, 117292931: 117292931
29 CFTR NM_000492.3(CFTR): c.3484C> T (p.Arg1162Ter) single nucleotide variant Pathogenic rs74767530 GRCh37 Chromosome 7, 117267591: 117267591
30 CFTR NM_000492.3(CFTR): c.3717+4A> G single nucleotide variant Pathogenic rs387906362 GRCh37 Chromosome 7, 117267828: 117267828
31 CFTR NM_000492.3(CFTR): c.1000C> T (p.Arg334Trp) single nucleotide variant Pathogenic rs121909011 GRCh37 Chromosome 7, 117180284: 117180284
32 CFTR NM_000492.3(CFTR): c.1545_1546delTA (p.Tyr515Terfs) deletion Pathogenic rs121908776 GRCh37 Chromosome 7, 117199670: 117199671
33 CFTR NM_000492.3(CFTR): c.2551C> T (p.Arg851Ter) single nucleotide variant Pathogenic rs121909012 GRCh37 Chromosome 7, 117235044: 117235044
34 CFTR NM_000492.3(CFTR): c.1651G> A (p.Gly551Ser) single nucleotide variant Pathogenic/Likely pathogenic,drug response rs121909013 GRCh37 Chromosome 7, 117227859: 117227859
35 CFTR NM_000492.3(CFTR): c.3767dupC (p.Leu1258Phefs) duplication Pathogenic rs387906370 GRCh38 Chromosome 7, 117642487: 117642487
36 CFTR NM_000492.3(CFTR): c.254G> A (p.Gly85Glu) single nucleotide variant Pathogenic rs75961395 GRCh37 Chromosome 7, 117149177: 117149177
37 CFTR NM_000492.3(CFTR): c.3472C> T (p.Arg1158Ter) single nucleotide variant Pathogenic rs79850223 GRCh37 Chromosome 7, 117267579: 117267579
38 CFTR NM_000492.3(CFTR): c.720_741del22 (p.Gly241Glufs) deletion Pathogenic rs121908804 GRCh37 Chromosome 7, 117175442: 117175463
39 CFTR NM_000492.3(CFTR): c.424delA (p.Ile142Phefs) deletion Pathogenic rs387906363 GRCh37 Chromosome 7, 117171103: 117171103
40 CFTR NM_000492.3(CFTR): c.429delT (p.Phe143Leufs) deletion Pathogenic rs387906364 GRCh37 Chromosome 7, 117171108: 117171108
41 CFTR NM_000492.3(CFTR): c.2737_2738insG (p.Tyr913Terfs) insertion Pathogenic rs121908788 GRCh37 Chromosome 7, 117243665: 117243666
42 CFTR NM_000492.3(CFTR): c.1558G> T (p.Val520Phe) single nucleotide variant Pathogenic rs77646904 GRCh37 Chromosome 7, 117199683: 117199683
43 CFTR NM_000492.3(CFTR): c.1572C> A (p.Cys524Ter) single nucleotide variant Pathogenic rs121908754 GRCh37 Chromosome 7, 117199697: 117199697
44 CFTR NM_000492.3(CFTR): c.3873G> C (p.Gln1291His) single nucleotide variant Pathogenic rs121909015 GRCh37 Chromosome 7, 117282647: 117282647
45 CFTR NM_000492.3(CFTR): c.933C> G (p.Phe311Leu) single nucleotide variant Pathogenic rs121909016 GRCh37 Chromosome 7, 117180217: 117180217
46 CFTR NM_000492.3(CFTR): c.1093_1094delCT (p.Leu365Trpfs) deletion Pathogenic rs387906365 GRCh37 Chromosome 7, 117180377: 117180378
47 CFTR NM_000492.3(CFTR): c.1475C> T (p.Ser492Phe) single nucleotide variant Pathogenic rs121909017 GRCh37 Chromosome 7, 117199600: 117199600
48 CFTR NM_000492.3(CFTR): c.1679G> A (p.Arg560Lys) single nucleotide variant Pathogenic rs80055610 GRCh37 Chromosome 7, 117227887: 117227887
49 CFTR NM_000492.3(CFTR): c.2479G> T (p.Glu827Ter) single nucleotide variant Pathogenic rs121909018 GRCh37 Chromosome 7, 117232700: 117232700
50 CFTR NM_000492.3(CFTR): c.3197G> A (p.Arg1066His) single nucleotide variant Pathogenic rs121909019 GRCh37 Chromosome 7, 117251692: 117251692

Copy number variations for Cystic Fibrosis from CNVD:

7
id 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

Expression for Cystic Fibrosis

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

Pathways for Cystic Fibrosis

GO Terms for Cystic Fibrosis

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

id Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.91 CLCA1 CXCL8 DEFB1 ELANE PRSS1 S100A8
2 extracellular exosome GO:0070062 9.73 CFTR CLCA4 DEFB1 DNAJC5 DNASE1 ELANE
3 microvillus GO:0005902 9.5 CLCA1 SLC9A3R1 TGFB1
4 secretory granule GO:0030141 9.46 CLCA1 ELANE STX1A TGFB1
5 extracellular region GO:0005576 9.4 CLCA1 CLCA4 CXCL8 DEFB1 DNASE1 ELANE
6 sperm midpiece GO:0097225 9.37 DEFB1 SLC9A3R1

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

(show all 17)
id Name GO ID Score Top Affiliating Genes
1 neutrophil degranulation GO:0043312 9.92 DNAJC5 ELANE FCGR2A S100A8 S100A9
2 defense response to bacterium GO:0042742 9.81 DEFB1 ELANE S100A8 S100A9
3 chemotaxis GO:0006935 9.78 CXCL8 DEFB1 S100A8 S100A9
4 chloride transmembrane transport GO:1902476 9.72 CFTR CLCA1 CLCA4
5 chloride transport GO:0006821 9.71 CFTR CLCA1 CLCA4
6 neutrophil chemotaxis GO:0030593 9.67 CXCL8 S100A8 S100A9
7 astrocyte development GO:0014002 9.57 S100A8 S100A9
8 acute inflammatory response GO:0002526 9.56 DEFB1 S100A8
9 positive regulation of intrinsic apoptotic signaling pathway GO:2001244 9.5 S100A8 S100A9 SLC9A3R1
10 peptidyl-cysteine S-nitrosylation GO:0018119 9.46 S100A8 S100A9
11 positive regulation of peptide secretion GO:0002793 9.43 S100A8 S100A9
12 defense response to fungus GO:0050832 9.43 ELANE S100A8 S100A9
13 sequestering of zinc ion GO:0032119 9.4 S100A8 S100A9
14 chemokine production GO:0032602 9.37 S100A8 S100A9
15 antimicrobial humoral response GO:0019730 9.26 DEFB1 ELANE S100A8 S100A9
16 neutrophil aggregation GO:0070488 9.16 S100A8 S100A9
17 leukocyte migration involved in inflammatory response GO:0002523 8.8 ELANE S100A8 S100A9

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

id 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 9.58 CFTR CLCA1 CLCA4
3 intracellular calcium activated chloride channel activity GO:0005229 9.46 CLCA1 CLCA4
4 RAGE receptor binding GO:0050786 9.43 S100A8 S100A9
5 chloride channel regulator activity GO:0017081 9.37 CFTR SLC9A3R1
6 glycoprotein binding GO:0001948 9.33 DNAJC5 STX1A TGFB1
7 chloride channel inhibitor activity GO:0019869 9.32 CFTR STX1A
8 ATP-dependent protein binding GO:0043008 9.26 DNAJC5 STX1A
9 arachidonic acid binding GO:0050544 8.96 S100A8 S100A9
10 Toll-like receptor 4 binding GO:0035662 8.62 S100A8 S100A9

Sources for Cystic Fibrosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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