CF
MCID: CYS001
MIFTS: 103

Cystic Fibrosis (CF) malady

Gastrointestinal diseases, Reproductive diseases, Respiratory diseases, Endocrine diseases categories

Summaries for Cystic Fibrosis

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21Genetics Home Reference, 42NIH Rare Diseases, 33MedlinePlus, 63Wikipedia, 46OMIM, 32MalaCards
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MedlinePlus:33 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 problems such as repeated lung infections and lung damage. the symptoms and severity of cf vary widely. 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. although there is no cure for cf, treatments have improved greatly in recent years. until the 1980s, most deaths from cf occurred in children and teenagers. today, with improved treatments, some people who have cf are living into their forties, fifties, or older. nih: national heart, lung, and blood institute

MalaCards: Cystic Fibrosis, also known as mucoviscidosis, is related to pancreatitis and pulmonary fibrosis, and has symptoms including repeat respiratory infections, malabsorption/chronic diarrhea/steatorrhea and lung fibrosis. An important gene associated with Cystic Fibrosis is CFTR (cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)), and among its related pathways are Clathrin-dependent protein traffic and wtCFTR and deltaF508 traffic / Membrane expression (norm and CF). The drugs acetylcysteine and amiloride and the compounds calcium and nitric oxide have been mentioned in the context of this disorder. Affiliated tissues include lung, pancreas and liver, and related mouse phenotypes are homeostasis/metabolism and mortality/aging.

Genetics Home Reference:21 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:42 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

Wikipedia:63 Cystic fibrosis (CF), also known as mucoviscidosis, is an autosomal recessive genetic disorder that... more...

Description from OMIM:46 219700

Aliases & Classifications for Cystic Fibrosis

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Sources:
8Disease Ontology, 9diseasecard, 63Wikipedia, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 46OMIM, 10DISEASES, 44Novoseek, 48Orphanet, 33MedlinePlus, 30LifeMap Discovery™, 60UMLS, 56SNOMED-CT, 34MeSH, 27ICD9CM, 39NCIt, 35MESH via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet, 26ICD10 via Orphanet
See all sources

Classifications:



Characteristics (Orphanet epidemiological data):

48
cystic fibrosis:
Inheritance: Autosomal recessive; Prevalence: 1-9/100000; Age of onset: Neonatal/infancy; Age of death: Young adult


Aliases & Descriptions:

cystic fibrosis 8 9 63 42 20 22 21 46 10 44 48 33 30 60
mucoviscidosis 8 63 42 21 48
cf 8 63 42 21 48
fibrocystic disease of the pancreas 63
fibrocystic disease of pancreas 21
cystic fibrosis of pancreas 21
chronic fatigue syndrome 60


External Ids:

Disease Ontology8 DOID:1485
MeSH34 D003550
ICD9CM27 277.0
OMIM46 219700
NCIt39 C2975
MESH via Orphanet35 D003550
SNOMED-CT via Orphanet57 190905008
UMLS via Orphanet61 C0010674
ICD10 via Orphanet26 E84.0, E84.1, E84.8 E84.9, more

Related Diseases for Cystic Fibrosis

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Sources:
17GeneCards, 18GeneDecks
See all sources

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

(show top 50)    (show all 395)
idRelated DiseaseScoreTop Affiliating Genes
1pancreatitis31.5MPO, CFTR, ELANE, TGFB1
2pulmonary fibrosis31.5ELANE, TGFB1, MPO, IL8
3bronchiectasis31.5MPO, IL8, CFTR, ELANE, MBL2
4aspergillosis31.4MBL2, ELANE
5allergic bronchopulmonary aspergillosis31.4CFTR, MBL2
6asthma30.9DNASE1, MBL2, ELANE, S100A8, IL8, MPO
7infertility30.8CFTR
8hypertension30.6TGFB1
9acute pancreatitis30.6ELANE, CFTR, IL8, MPO
10influenza30.6MBL2, CFTR, DNASE1
11diabetes mellitus30.6TGFB1
12cholangitis30.5CFTR
13bronchiolitis30.5IL8
14pneumonia30.4ELANE, IL8, DEFB1, TGFB1, CFTR, MBL2
15bronchitis30.4ELANE, CFTR, IL8, S100A9, S100A8, DNASE1
16arthritis30.4S100A9, TGFB1, MPO, S100A8, IL8
17adenocarcinoma30.4S100A9, S100A8, TGFB1
18alcoholic pancreatitis30.4ELANE, CFTR
19idiopathic pulmonary fibrosis30.3ELANE, IL8, TGFB1
20duodenitis30.3S100A8
21cftr-related disorders30.3CFTR
22respiratory failure30.2CFTR
23rheumatoid arthritis30.1CFTR, S100A9, S100A8, IL8, ELANE, MBL2
24duodenal ulcer30.1IL8, S100A8, DEFB1
25cholera30.1CFTR, DNASE1
26sarcoidosis30.1S100A9, DEFB1
27diarrhea30.1CFTR, STX1A
28colon cancer30.1CFTR, DNASE1
29rhinitis30.1IL8
30esophagitis30.1S100A8
31thyroiditis30.1MBL2
32allergic rhinitis30.1IL8, MPO
33ischemia30.0ATF6, SLC9A3R2, DNASE1, MPO
34leukemia29.9S100A8, S100A9, MBL2, MPO, DNASE1, TGFB1
35breast cancer29.9TGFB1, SLC9A3R1, CFTR, S100A8, DNASE1, S100A9
36atherosclerosis29.9S100A9, IL8, MBL2, MPO, TGFB1, ELANE
37systemic lupus erythematosus29.9S100A8, DNASE1, MPO, MBL2, S100A9
38prostate cancer29.9S100A9, STX1A, DEFB1, S100A8, TGFB1
39glomerulonephritis29.9ELANE, TGFB1, MPO, MBL2
40alzheimer's disease29.9ELANE, S100A9, DNASE1, STX1A
41inflammatory bowel disease29.9TGFB1, MPO, IL8
42proteinuria29.9MPO, CFTR, TGFB1
43hepatitis b29.9MBL2, DNASE1
44pancreas disease29.9ELANE, CFTR
45alpha 1-antitrypsin deficiency29.9ELANE
46peritonitis29.9MPO
47lung cancer29.9TGFB1
48lupus erythematosus29.9DNASE1
49galactosemia29.9TGFB1
50cervical cancer29.9MBL2

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



Diseases related to cystic fibrosis

Clinical Features for Cystic Fibrosis

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Sources:
46OMIM, 48Orphanet
See all sources

Clinical features from OMIM:

219700

Symptoms:

48 (show all 9)
  • repeat respiratory infections
  • malabsorption/chronic diarrhea/steatorrhea
  • lung fibrosis
  • structural anomalies of the liver and the biliary tract
  • immunodeficiency/increased susceptibility to infections/recurrent infections
  • structural anomalies of the pancreas
  • agammaglobulinemia/hypogammaglobulinemia/b-cell deficiency
  • autosomal recessive inheritance
  • hepatomegaly/liver enlargement (excluding storage disease)

Drugs & Therapeutics for Cystic Fibrosis

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 30LifeMap Discovery™, 60UMLS, 40NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Cystic Fibrosis

Drug clinical trials:

Search ClinicalTrials for Cystic Fibrosis

Search NIH Clinical Center for Cystic Fibrosis

Search CenterWatch for Cystic Fibrosis

Inferred drug relations via UMLS60/NDF-RT40:

Cell-based therapeutics:


LifeMap Discovery
The database of embryonic development, stem cell research and regenerative medicine
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

Genetic Tests for Cystic Fibrosis

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20GeneTests, 22GTR
See all sources

Genetic tests related to Cystic Fibrosis:

id Genetic test Affiliating Genes
1 Cystic Fibrosis20 22

Anatomical Context for Cystic Fibrosis

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Sources:
30LifeMap Discovery™, 32MalaCards
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MalaCards organs/tissues related to Cystic Fibrosis:

32
Lung, Pancreas, Liver, Testes, Colon, Bone, Heart, Kidney, Monocytes, B cells, Smooth muscle, T cells, Endothelial, Small intestine, Bronchial epithelium, Whole blood, Skeletal muscle, Thyroid, Brain, Skin, Hypothalamus, Prostate, Cardiac myocytes, Trachea, Fetal lung, Cervix, Placenta, Myeloid, Testis, Breast, Ovary, Spinal cord, Lymph node, Spleen, Uterus, Bone marrow

LifeMap Discovery
The database of embryonic development, stem cell research and regenerative medicine

Cells/anatomical compartments in embryo or adult related to Cystic Fibrosis:
id TissueAnatomical CompartmentCell Relevance
1 LungRespiratory BronchiolesBasal Cells Potential therapeutic candidate
2 LungRespiratory BronchiolesCilliated Cells Potential therapeutic candidate, affected by disease
3 LungSubmucosal Glands  Affected by disease

Animal Models for Cystic Fibrosis or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Cystic Fibrosis:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000537612.5TGFB1, S100A9, MBL2, STX1A, MPO, ATF6
2MP:001076812.4ATF6, MPO, STX1A, S100A8, S100A9, DEFB1
3MP:000539711.8MBL2, MPO, DNASE1, IL8, CFTR, ELANE
4MP:000538711.7S100A9, MBL2, MPO, DEFB1, DNASE1, IL8

Publications for Cystic Fibrosis

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Sources:
50PubMed
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Articles related to Cystic Fibrosis:

(show top 50)    (show all 3347)
idTitleAuthorsYear
1
The Cystic Fibrosis V232D Mutation Inhibits CFTR Maturation by Disrupting a Hydrophobic Pocket Rather than Formation of Aberrant Interhelical Hydrogen Bonds. (24412276)
2014
2
Effect of general anesthesia on pulmonary function and clinical status on children with cystic fibrosis. (24004189)
2014
3
Estimating peak oxygen uptake in adolescents with cystic fibrosis. (23894083)
2014
4
Clinical presentation of mild cystic fibrosis in a Serbian patient homozygous for the CFTR mutation c.1393-1G>A. (23933162)
2014
5
NICE guidance on colistimethate sodium and tobramycin for pseudomonas lung infection in cystic fibrosis. (24429083)
2013
6
Surgical management of chronic rhinosinusitis in cystic fibrosis: a systematic review. (23839953)
2013
7
Non-genomic estrogen regulation of ion transport and airway surface liquid dynamics in cystic fibrosis bronchial epithelium. (24223826)
2013
8
Poly-L-Lysine compacts DNA, kills bacteria, and improves protease inhibition in cystic fibrosis sputum. (23947381)
2013
9
Application of a microsystem-based project to improve the inpatient care of adults with cystic fibrosis. (23802815)
2013
10
Understanding the relationship between sweat chloride and lung function in cystic fibrosis. (24081360)
2013
11
Human heat shock protein 105/110 kDa (Hsp105/110) regulates biogenesis and quality control of misfolded cystic fibrosis transmembrane conductance regulator at multiple levels. (22505710)
2012
12
Pulmonary function in individuals who underwent liver transplantation: from the US cystic fibrosis foundation registry. (22271602)
2012
13
Cystic fibrosis mutations for p.F508del compound heterozygotes predict sweat chloride levels and pancreatic sufficiency. (22035343)
2012
14
Inhaled gentamicin in non-cystic fibrosis bronchiectasis: effects of long-term therapy. (21470074)
2011
15
In cystic fibrosis homozygotes and heterozygotes, neutrophil apoptosis is delayed and modulated by diamide or roscovitine: evidence for an innate neutrophil disturbance. (20375556)
2010
16
17Beta-estradiol inhibits IL-8 in cystic fibrosis by up-regulating secretory leucoprotease inhibitor. (20378727)
2010
17
Novel CFTR mutations in a Korean infant with cystic fibrosis and pancreatic insufficiency. (20052365)
2010
18
Clinical and genetic characteristics of meconium ileus in newborns with and without cystic fibrosis. (20386322)
2010
19
Should the bronchiectasis treatment given to cystic fibrosis patients be extrapolated to those with bronchiectasis from other causes? (20835588)
2010
20
Modifier genes in Mendelian disorders: the example of cystic fibrosis. (21175684)
2010
21
Functional properties of mixed cystic fibrosis and normal bronchial epithelial cell cultures. (19011164)
2009
22
alpha1-Antitrypsin inhalation reduces airway inflammation in cystic fibrosis patients. (17050563)
2007
23
Pancreatic phenotype in infants with cystic fibrosis identified by mutation screening. (17449517)
2007
24
Mucus structure and properties in cystic fibrosis. (17419972)
2007
25
Relationships between cystic fibrosis transmembrane conductance regulator, extracellular nucleotides and cystic fibrosis. (16828872)
2006
26
Interplay between cystic fibrosis transmembrane regulator and gap junction channels made of connexins 45, 40, 32 and 50 expressed in oocytes. (17546509)
2006
27
Genotype and phenotype of gastrointestinal symptoms analysis in children with cystic fibrosis]. (17877132)
2005
28
Location of a common inhibitor binding site in the cytoplasmic vestibule of the cystic fibrosis transmembrane conductance regulator chloride channel pore. (15634668)
2005
29
Phenotypic expression of genotype-phenotype correlation in cystic fibrosis patients carrying the 852del22 mutation. (15633186)
2005
30
Serum concentrations of GM-CSF and G-CSF correlate with the Th1/Th2 cytokine response in cystic fibrosis patients with chronic Pseudomonas aeruginosa lung infection. (15996157)
2005
31
Characterization of cystic fibrosis conductance transmembrane regulator gene mutations and IVS8 poly(T) variants in Portuguese patients with congenital absence of the vas deferens. (15333598)
2004
32
Giardiasis aggravates malabsorption in cystic fibrosis. (15223689)
2004
33
Antineutrophil cytoplasmic antibodies directed against bactericidal/permeability-increasing protein detected in children with cystic fibrosis inhibit neutrophil-mediated killing of Pseudomonas aeruginosa. (12593970)
2003
34
A novel way to diagnose cystic fibrosis in the neonate with a bowel obstruction and possible meconium ileus. (14629510)
2003
35
Bak Foong Pills stimulate anion secretion across normal and cystic fibrosis pancreatic duct epithelia. (12468376)
2002
36
An alpha1-antitrypsin enhancer polymorphism is a genetic modifier of pulmonary outcome in cystic fibrosis. (11313771)
2001
37
Effects of cystic fibrosis and congenital bilateral absence of the vas deferens-associated mutations on cystic fibrosis transmembrane conductance regulator-mediated regulation of separate channels. (10762539)
2000
38
Triple A syndrome mimicking cystic fibrosis. (10714761)
2000
39
Cytokine dysregulation in activated cystic fibrosis (CF) peripheral lymphocytes. (10844532)
2000
40
An intrasylvian "fibroma" in a child with cystic fibrosis: case report. (10719873)
2000
41
Restoration of bacterial killing activity of human respiratory cystic fibrosis cells through cationic vector-mediated cystic fibrosis transmembrane conductance regulator gene transfer. (10466626)
1999
42
Variation in the composition and pore function of major outer membrane pore protein P2 of Haemophilus influenzae from cystic fibrosis patients. (9925510)
1999
43
Pancreatitis and cystic fibrosis gene mutations. (10503135)
1999
44
Aerosolized dornase alfa in cystic fibrosis: is there a role in the management of patients with early obstructive lung disease? (9292913)
1997
45
The molecular basis of partial penetrance of splicing mutations in cystic fibrosis. (8981951)
1997
46
Secretory leukocyte protease inhibitor in cystic fibrosis. (8102834)
1993
47
The experience with the foetal diagnosis of the cystic fibrosis in the second and first trimester. (2130672)
1990
48
Recombinant human DNase I reduces the viscosity of cystic fibrosis sputum. (2251263)
1990
49
Cystic fibrosis with and without meconium ileus. (2563077)
1989
50
Vitamin A deficiency with xerophthalmia and night blindness in cystic fibrosis. (5303293)
1968

Genetic Variations for Cystic Fibrosis

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Cystic Fibrosis:

62 (show all 133)
id Symbol AA change Variation ID SNP ID
1CFTRp.Ser13PheVAR_000101
2CFTRp.Arg31LeuVAR_000103
3CFTRp.Ser42PheVAR_000104
4CFTRp.Asp44GlyVAR_000105
5CFTRp.Trp57GlyVAR_000108
6CFTRp.Pro67LeuVAR_000109
7CFTRp.Arg74TrpVAR_000110rs115545701
8CFTRp.Gly85GluVAR_000112
9CFTRp.Phe87LeuVAR_000113
10CFTRp.Gly91ArgVAR_000114
11CFTRp.Glu92LysVAR_000115
12CFTRp.Gln98ArgVAR_000116
13CFTRp.Ile105SerVAR_000117
14CFTRp.Tyr109CysVAR_000118
15CFTRp.Asp110HisVAR_000119
16CFTRp.Arg117CysVAR_000121
17CFTRp.Arg117HisVAR_000122
18CFTRp.Arg117LeuVAR_000123
19CFTRp.Arg117ProVAR_000124
20CFTRp.Ala120ThrVAR_000125
21CFTRp.His139ArgVAR_000126
22CFTRp.Ala141AspVAR_000127
23CFTRp.Ile148ThrVAR_000128rs35516286
24CFTRp.Gly178ArgVAR_000130
25CFTRp.Glu193LysVAR_000132
26CFTRp.His199GlnVAR_000133
27CFTRp.His199TyrVAR_000134
28CFTRp.Pro205SerVAR_000135
29CFTRp.Leu206TrpVAR_000136
30CFTRp.Cys225ArgVAR_000137
31CFTRp.Asn287TyrVAR_000140
32CFTRp.Arg297GlnVAR_000141
33CFTRp.Tyr301CysVAR_000142rs150691494
34CFTRp.Ser307AsnVAR_000143
35CFTRp.Phe311LeuVAR_000144
36CFTRp.Gly314GluVAR_000146
37CFTRp.Gly314ArgVAR_000147
38CFTRp.Arg334TrpVAR_000148rs121909011
39CFTRp.Ile336LysVAR_000150
40CFTRp.Thr338IleVAR_000151
41CFTRp.Leu346ProVAR_000152
42CFTRp.Arg347HisVAR_000153
43CFTRp.Arg347LeuVAR_000154
44CFTRp.Arg347ProVAR_000155
45CFTRp.Arg352GlnVAR_000156
46CFTRp.Gln359LysVAR_000157
47CFTRp.Ala455GluVAR_000160
48CFTRp.Val456PheVAR_000161
49CFTRp.Gly458ValVAR_000162
50CFTRp.Gly480CysVAR_000165
51CFTRp.Ser492PheVAR_000166
52CFTRp.Glu504GlnVAR_000167
53CFTRp.Val520PheVAR_000174rs77646904
54CFTRp.Ser549AsnVAR_000176
55CFTRp.Ser549IleVAR_000177
56CFTRp.Ser549ArgVAR_000178
57CFTRp.Gly551AspVAR_000179
58CFTRp.Gly551SerVAR_000180
59CFTRp.Arg553GlnVAR_000181
60CFTRp.Leu558SerVAR_000182
61CFTRp.Ala559ThrVAR_000183
62CFTRp.Arg560LysVAR_000184
63CFTRp.Arg560SerVAR_000185
64CFTRp.Arg560ThrVAR_000186
65CFTRp.Val562LeuVAR_000188rs1800097
66CFTRp.Tyr563AsnVAR_000189
67CFTRp.Tyr569CysVAR_000190
68CFTRp.Tyr569AspVAR_000191
69CFTRp.Tyr569HisVAR_000192
70CFTRp.Leu571SerVAR_000193
71CFTRp.Asp572AsnVAR_000194
72CFTRp.Pro574HisVAR_000195
73CFTRp.Asp579GlyVAR_000197
74CFTRp.Ile601PheVAR_000198
75CFTRp.Leu610SerVAR_000199
76CFTRp.Ala613ThrVAR_000200rs201978662
77CFTRp.Asp614GlyVAR_000201rs201124247
78CFTRp.Ile618ThrVAR_000202
79CFTRp.Leu619SerVAR_000203
80CFTRp.His620ProVAR_000204
81CFTRp.His620GlnVAR_000205
82CFTRp.Gly628ArgVAR_000207
83CFTRp.Leu633ProVAR_000208
84CFTRp.Asp648ValVAR_000209
85CFTRp.Asp651AsnVAR_000210
86CFTRp.Thr665SerVAR_000211
87CFTRp.Val754MetVAR_000214rs150157202
88CFTRp.Glu822LysVAR_000219
89CFTRp.Cys866TyrVAR_000221
90CFTRp.Tyr913CysVAR_000223
91CFTRp.Tyr917CysVAR_000224
92CFTRp.His949TyrVAR_000225
93CFTRp.Met952IleVAR_000226
94CFTRp.Leu997PheVAR_000227rs1800111
95CFTRp.Ile1005ArgVAR_000228
96CFTRp.Ala1006GluVAR_000229
97CFTRp.Pro1013LeuVAR_000230
98CFTRp.Met1028IleVAR_000231
99CFTRp.Phe1052ValVAR_000232
100CFTRp.Gly1061ArgVAR_000233rs142394380
101CFTRp.Leu1065ProVAR_000234
102CFTRp.Leu1065ArgVAR_000235
103CFTRp.Arg1066CysVAR_000236
104CFTRp.Arg1066HisVAR_000237
105CFTRp.Arg1066LeuVAR_000238
106CFTRp.Ala1067ThrVAR_000239
107CFTRp.Arg1070GlnVAR_000241
108CFTRp.Arg1070ProVAR_000242
109CFTRp.Gln1071ProVAR_000243
110CFTRp.Pro1072LeuVAR_000244
111CFTRp.Leu1077ProVAR_000245
112CFTRp.His1085ArgVAR_000246
113CFTRp.Trp1098ArgVAR_000247
114CFTRp.Met1101LysVAR_000248rs36210737
115CFTRp.Met1137ValVAR_000249
116CFTRp.Asp1152HisVAR_000251
117CFTRp.Ile1234ValVAR_000254
118CFTRp.Ser1235ArgVAR_000255rs34911792
119CFTRp.Gly1244GluVAR_000256
120CFTRp.Gly1249GluVAR_000257
121CFTRp.Ser1251AsnVAR_000258
122CFTRp.Ser1255ProVAR_000259
123CFTRp.Asp1270AsnVAR_000260rs11971167
124CFTRp.Trp1282ArgVAR_000261
125CFTRp.Arg1283MetVAR_000262
126CFTRp.Phe1286SerVAR_000263
127CFTRp.Gln1291HisVAR_000264
128CFTRp.Gln1291ArgVAR_000265
129CFTRp.Asn1303HisVAR_000266
130CFTRp.Asn1303LysVAR_000267rs80034486
131CFTRp.Gly1349AspVAR_000268
132CFTRp.Val1397GluVAR_000270
133CFTRp.Met1101ArgVAR_011565

Expression for genes affiliated with Cystic Fibrosis

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Cystic Fibrosis

Search GEO for disease gene expression data for Cystic Fibrosis.

Pathways for genes affiliated with Cystic Fibrosis

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Sources:
12EMD Millipore, 29KEGG, 53Reactome
See all sources

Pathways related to Cystic Fibrosis according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
111.1STX1A, CFTR, SLC9A3R1, SLC9A3R2
2
wtCFTR and deltaF508 traffic / Membrane expression (norm and CF)
11.1SLC9A3R2, SLC9A3R1, CFTR, STX1A
311.0CFTR, CLCA2, CLCA4
4
Cytokine production by Th17 cells in CF (Mouse model)
11.0IL8, CFTR, TGFB1
5
CFTR-dependent regulation of ion channels in Airway Epithelium (norm and CF)
11.0SLC9A3R1, CFTR, CLCA2
6
Regulation of degradation of wt-CFTR
11.0CFTR, DNAJC5, DERL1
7
Hide members
10.8TGFB1, ELANE

Compounds for genes affiliated with Cystic Fibrosis

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Sources:
44Novoseek, 49PharmGKB, 11DrugBank, 24HMDB, 28IUPHAR, 59Tocris Bioscience, 2BitterDB
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Compounds related to Cystic Fibrosis according to GeneCards/GeneDecks:

(show top 50)    (show all 78)
idCompoundScoreTop Affiliating Genes
1calcium44 49 11 2415.9MPO, STX1A, MBL2, S100A8, S100A9, ATF6
2nitric oxide44 11 2414.2S100A9, S100A8, MBL2, STX1A, MPO, IL8
3retinoic acid44 2413.2S100A9, S100A8, MPO, DEFB1, DNASE1, CFTR
4cysteine4412.0S100A8, MBL2, STX1A, DNAJC5, IL8, CFTR
5dmso4411.9TGFB1, CFTR, DNASE1, MPO, S100A8, S100A9
6paraffin4411.9S100A8, MBL2, MPO, DNASE1, CFTR, TGFB1
7dexamethasone44 49 28 1114.7S100A8, DEFB1, DNASE1, CFTR, TGFB1
8chlorine44 2412.7MPO, CLCA4, CLCA2, CFTR, ELANE
9cytochalasin d44 5912.7DNASE1, IL8, CFTR, SLC9A3R1, TGFB1
10chloride4411.7SLC9A3R1, CFTR, CLCA2, MPO, STX1A
11vitamin d4411.7MBL2, DNASE1, CFTR, ELANE, TGFB1
12cyclosporin a44 28 5913.6DNASE1, IL8, CFTR, ELANE, TGFB1
13amiloride44 28 1113.6MPO, CFTR, SLC9A3R2, TGFB1
14serine4411.5S100A8, MPO, IL8, TGFB1
15h2o24411.5S100A9, MPO, DNASE1, CFTR
16hyaluronic acid44 2412.5TGFB1, ELANE, IL8, DNASE1
17formaldehyde44 2412.5TGFB1, CFTR, DNASE1, MPO
18fmlp4411.5S100A9, MPO, IL8, ELANE
19lactate4411.4MPO, DNASE1, IL8, ELANE, TGFB1
20monosodium urate4411.4S100A9, S100A8, IL8
21cilomilast4411.4MPO, IL8, ELANE
22ulinastatin4411.4MPO, IL8, ELANE
23pirfenidone44 5912.4S100A9, S100A8, TGFB1
24rantes4411.4TGFB1, MBL2, S100A8
25zymosan4411.4ELANE, MPO, MBL2
26iodoacetamide4411.4MPO, DNASE1, ELANE
27polymyxin b4411.4IL8, DEFB1, MBL2
28anaphylatoxin4411.3MPO, IL8, ELANE
29fluticasone propionate44 49 59 1114.3MPO, IL8, ELANE
30alginate4411.3DNASE1, ELANE, TGFB1
31cytochalasin b4411.2ELANE, MPO, S100A9
32csp-14411.2STX1A, DNAJC5
331-hydroxyphenazine4411.2MPO, ELANE
34sivelestat sodium hydrate4411.2IL8, ELANE
35methacholine44 1112.2MPO, IL8, TGFB1
36diphenyleneiodonium4411.1TGFB1, IL8, MPO
37curosurf4411.1IL8, ELANE
38endotoxin4411.1S100A8, S100A9
39dcpib5911.1CLCA2, CFTR
40cftrinh 1725911.1CLCA2, CFTR
41survanta4411.1IL8, ELANE
42sivelestat4411.1IL8, ELANE
43valine4411.1CFTR, ELANE
44n-formylmethionyl-leucylphenylalanine4411.0MPO, IL8, ELANE
45luminol4411.0MPO, S100A8
46superoxide44 2411.9ELANE, MBL2
47pge24410.9TGFB1
48rebamipide4410.8IL8, MPO
49erythromycin44 49 2 1113.5TGFB1
50pentoxifylline44 1111.5ELANE, MPO

GO Terms for genes affiliated with Cystic Fibrosis

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Sources:
16Gene Ontology
See all sources

Cellular components related to Cystic Fibrosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1extracellular regionGO:00557612.4TGFB1, S100A9, S100A8, MBL2, STX1A, DEFB1
2extracellular spaceGO:00561511.5TGFB1, IL8, MPO, MBL2, S100A8, S100A9
3microvillusGO:00590211.0CFTR, SLC9A3R1, TGFB1
4secretory granuleGO:03014110.9ELANE, MPO, STX1A
5apical plasma membraneGO:01632410.8CLCA4, CFTR, SLC9A3R1, SLC9A3R2

Biological processes related to Cystic Fibrosis according to GeneCards/GeneDecks:

(show all 17)
idNameGO IDScoreTop Affiliating Genes
1defense response to bacteriumGO:04274211.4DEFB1, MBL2, S100A8, S100A9
2negative regulation of growth of symbiont in hostGO:04413011.3ELANE, MPO, MBL2
3defense response to fungusGO:05083211.3S100A9, S100A8, MPO
4positive regulation of intrinsic apoptotic signaling pathwayGO:200124411.3S100A9, S100A8, SLC9A3R1
5neutrophil chemotaxisGO:03059311.2S100A9, S100A8, IL8
6inflammatory responseGO:00695411.1S100A9, S100A8, IL8, TGFB1
7endoplasmic reticulum unfolded protein responseGO:03096811.1ATF6, DERL1, IL8
8chemokine productionGO:03260211.1S100A8, S100A9
9neutrophil aggregationGO:07048811.1S100A8, S100A9
10sequestering of zinc ionGO:03211911.0S100A9, S100A8
11response to yeastGO:00187811.0MPO, ELANE
12leukocyte migration involved in inflammatory responseGO:00252311.0S100A8, S100A9
13positive regulation of NF-kappaB transcription factor activityGO:05109211.0TGFB1, S100A8, S100A9
14chronic inflammatory responseGO:00254411.0S100A8, S100A9
15negative regulation of phosphatidylinositol 3-kinase cascadeGO:01406710.9SLC9A3R2, SLC9A3R1
16acute inflammatory responseGO:00252610.7DEFB1, S100A8
17regulation of cytoskeleton organizationGO:05149310.5S100A8, S100A9

Molecular functions related to Cystic Fibrosis according to GeneCards/GeneDecks:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1protein bindingGO:00551512.6S100A9, S100A8, MBL2, STX1A, ATF6, DERL1
2chloride channel activityGO:00525411.1CFTR, CLCA2, CLCA4
3protein N-terminus bindingGO:04748511.0TGFB1, DCTN4, STX1A
4Toll-like receptor 4 bindingGO:03566211.0S100A8, S100A9
5arachidonic acid bindingGO:05054410.9S100A9, S100A8
6ATP-dependent protein bindingGO:04300810.7STX1A, DNAJC5
7RAGE receptor bindingGO:05078610.5S100A8, S100A9

Products for genes affiliated with Cystic Fibrosis

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Cystic Fibrosis

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet