CF
MCID: CYS001
MIFTS: 96

Cystic Fibrosis (CF) malady

Genetic diseases, Rare diseases, Gastrointestinal diseases, Reproductive diseases, Respiratory diseases, Endocrine diseases categories

Summaries for Cystic Fibrosis

About this section
Sources:
44NIH Rare Diseases, 35MedlinePlus, 66Wikipedia, 48OMIM, 34MalaCards
See all sources

Fully expand this MalaCard

Download this MalaCard
MedlinePlus:35 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 bronchiectasis, and has symptoms including hepatomegaly/liver enlargement (excluding storage disease), immunodeficiency/increased susceptibility to infections/recurrent infections and repeat respiratory infections. 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 Pancreatic secretion and Cytokine production by Th17 cells in CF. The drugs acetylcysteine and amiloride and the compounds csp-1 and sivelestat sodium hydrate have been mentioned in the context of this disorder. Affiliated tissues include lung, pancreas and liver, and related mouse phenotypes are immune system and homeostasis/metabolism.

NIH Rare Diseases:44 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:66 Cystic fibrosis (CF), also known as mucoviscidosis, is an autosomal recessive genetic disorder that... more...

Description from OMIM:48 219700

Aliases & Classifications for Cystic Fibrosis

About this section
Sources:
9Disease Ontology, 10diseasecard, 66Wikipedia, 44NIH Rare Diseases, 21GeneTests, 23GTR, 22Genetics Home Reference, 48OMIM, 11DISEASES, 46Novoseek, 50Orphanet, 35MedlinePlus, 32LifeMap Discovery™, 63UMLS, 41NCIt, 59SNOMED-CT, 36MeSH, 28ICD9CM, 37MESH via Orphanet, 60SNOMED-CT via Orphanet, 64UMLS via Orphanet, 27ICD10 via Orphanet
See all sources

Classifications:



Characteristics (Orphanet epidemiological data):

50
cystic fibrosis:
Inheritance: Autosomal recessive; Prevalence: 1-5/10000; Age of onset: Neonatal/infancy; Age of death: Young adult


Aliases & Descriptions:

cystic fibrosis 9 10 66 44 21 23 22 48 11 46 50 35 32 63
mucoviscidosis 9 66 44 22 50
cf 9 66 44 22 50
fibrocystic disease of the pancreas 66
fibrocystic disease of pancreas 22
cystic fibrosis of pancreas 22
chronic fatigue syndrome 63


External Ids:

Disease Ontology9 DOID:1485
NCIt41 C2975
OMIM48 219700
MeSH36 D003550
ICD9CM28 277.0
MESH via Orphanet37 D003550
SNOMED-CT via Orphanet60 190905008
UMLS via Orphanet64 C0010674
ICD10 via Orphanet27 E84.0, E84.1, E84.8 E84.9, more

Related Diseases for Cystic Fibrosis

About this section
Sources:
18GeneCards, 19GeneDecks
See all sources

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

(show top 50)    (show all 369)
idRelated DiseaseScoreTop Affiliating Genes
1pancreatitis31.8ELANE, TGFB1, CFTR
2bronchiectasis31.7CFTR, ELANE, IL8, MBL2
3aspergillosis31.7MBL2, ELANE
4allergic bronchopulmonary aspergillosis31.7MBL2, CFTR
5exocrine pancreatic insufficiency31.2ELANE, CFTR
6asthma31.1DEFB1, TGFB1, ELANE, IL8, DNASE1, S100A8
7sinusitis30.9CFTR
8acute pancreatitis30.9CFTR, ELANE, IL8
9steatorrhea30.9ELANE, CFTR
10influenza30.8CFTR, DNASE1, MBL2
11primary sclerosing cholangitis30.7CFTR, ELANE
12bronchitis30.7CFTR, ELANE, IL8, DNASE1, S100A9, S100A8
13arthritis30.7S100A8, S100A9, IL8, TGFB1
14pneumonia30.7DEFB1, CFTR, TGFB1, ELANE, IL8, S100A8
15cftr-related disorders30.6CFTR
16idiopathic pulmonary fibrosis30.5TGFB1, ELANE, IL8
17pulmonary fibrosis30.5TGFB1, ELANE, IL8
18osteoporosis30.5TGFB1, CFTR
19duodenal ulcer30.4DEFB1, IL8, S100A8
20alcoholic pancreatitis30.4ELANE, CFTR
21sepsis30.4DEFB1, ELANE, IL8, S100A8, MBL2
22rheumatoid arthritis30.4MBL2, S100A8, S100A9, IL8, ELANE, CFTR
23pancreatic cancer30.4CFTR, TGFB1, IL8, DNASE1
24septic shock30.2MBL2, IL8, ELANE
25bacterial vaginosis30.2IL8, MBL2
26inflammatory bowel disease30.2DEFB1, ELANE, IL8, S100A9, S100A8
27systemic lupus erythematosus30.2DNASE1, S100A9, S100A8, MBL2
28bronchopulmonary dysplasia30.2ELANE, IL8
29glomerulonephritis30.2MBL2, ELANE, TGFB1
30breast cancer30.2CFTR, TGFB1, DNASE1, S100A9, S100A8, SLC9A3R1
31atherosclerosis30.2TGFB1, ELANE, IL8, S100A9, MBL2
32leukemia30.1CFTR, TGFB1, DNASE1, S100A9, S100A8, MBL2
33prostate cancer30.0S100A8, S100A9, STX1A, TGFB1, DEFB1
34meconium ileus10.9
35ileus10.9
36stenotrophomonas maltophilia10.8
37liver disease10.7
38pulmonary function10.7
39mycobacterium abscessus10.7
40encephalomyelitis10.6
41intestinal obstruction10.6
42infertility10.6
43blindness10.6
44primary ciliary dyskinesia10.5
45hypertension10.5
46cor pulmonale10.5
47acrodermatitis10.5
48acrodermatitis enteropathica10.5
49enteropathica10.5
50glucose intolerance10.4

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



Diseases related to cystic fibrosis

Symptoms for Cystic Fibrosis

About this section
Sources:
48OMIM, 50Orphanet
See all sources


Clinical features from OMIM:

219700

Symptoms:

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

Drugs & Therapeutics for Cystic Fibrosis

About this section
Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 32LifeMap Discovery™, 63UMLS, 42NDF-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 UMLS63/NDF-RT42:

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

About this section
Sources:
21GeneTests, 23GTR
See all sources

Genetic tests related to Cystic Fibrosis:

id Genetic test Affiliating Genes
1 Cystic Fibrosis21 23

Anatomical Context for Cystic Fibrosis

About this section
Sources:
32LifeMap Discovery™, 34MalaCards
See all sources

MalaCards organs/tissues related to Cystic Fibrosis:

34
Lung, Pancreas, Liver, Testes, Colon, Bone, Heart, Monocytes, Kidney, B cells, Endothelial, Smooth muscle, T cells, Bronchial epithelium, Small intestine, Whole blood, Skeletal muscle, Thyroid, Prostate, Hypothalamus, Brain, Skin, Lymph node, Fetal lung, Cervix, Testis, Trachea, Cardiac myocytes, Myeloid, Breast, Bone marrow, Uterus, Spleen, Ovary, Spinal cord

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

About this section
Sources:
38MGI
See all sources

MGI Mouse Phenotypes related to Cystic Fibrosis:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000538710.0CFTR, TGFB1, ELANE, IL8, DNASE1, S100A9
2MP:00053769.7SLC9A3R2, ATF6, CFTR, TGFB1, ELANE, STX1A
3MP:00107689.6TGFB1, CFTR, ATF6, DEFB1, ELANE, STX1A

Publications for Cystic Fibrosis

About this section
Sources:
53PubMed
See all sources

Articles related to Cystic Fibrosis:

(show top 50)    (show all 3306)
idTitleAuthorsYear
1
Neonates with cystic fibrosis have a reduced nasal liquid pH; A small pilot study. (24418186)
2014
2
Novel picolinamide-based cystic fibrosis transmembrane regulator modulators: evaluation of WO2013038373, WO2013038376, WO2013038381, WO2013038386 and WO2013038390. (24392786)
2014
3
Early acute pancreatitis in a child with compound heterozygosis a88F508/R1438W/Y1032C cystic fibrosis: a case report. (23883480)
2013
4
Complete genome sequence of the cystic fibrosis pathogen Achromobacter xylosoxidans NH44784-1996 complies with important pathogenic phenotypes. (23894309)
2013
5
One-year evaluation of a neonatal screening program for cystic fibrosis in Switzerland. (23825488)
2013
6
The cystic fibrosis F508del mutation in Crohn's disease. (21131241)
2011
7
Thermally unstable gating of the most common cystic fibrosis mutant channel (I9F508): "rescue" by suppressor mutations in nucleotide binding domain 1 and by constitutive mutations in the cytosolic loops. (21965669)
2011
8
Non-cystic fibrosis bronchiectasis: diagnosis and management in 21st century. (20709772)
2010
9
In cystic fibrosis homozygotes and heterozygotes, neutrophil apoptosis is delayed and modulated by diamide or roscovitine: evidence for an innate neutrophil disturbance. (20375556)
2010
10
Proline-Glycine-Proline (PGP) and High Mobility Group Box Protein-1 (HMGB1): Potential Mediators of Cystic Fibrosis Airway Inflammation. (20448817)
2010
11
Butyl-p-hydroxybenzoate stimulates cystic fibrosis transmembrane conductance regulator Cl- transport]. (19350818)
2009
12
Expression levels of FAS are regulated through an evolutionary conserved element in intron 2, which modulates cystic fibrosis disease severity. (18685642)
2008
13
DNA demethylation-dependent enhancement of toll-like receptor-2 gene expression in cystic fibrosis epithelial cells involves SP1-activated transcription. (18423053)
2008
14
The study of cystic fibrosis transmembrane conductance regulator gene mutations in a group of patients from Romania. (18467194)
2008
15
Oxidative stress induces extracellular signal-regulated kinase 1/2 mitogen-activated protein kinase in cystic fibrosis lung epithelial cells: Potential mechanism for excessive IL-8 expression. (17936667)
2008
16
Modulation of cystic fibrosis lung disease by variants in interleukin-8. (18563170)
2008
17
Elafin, an elastase-specific inhibitor, is cleaved by its cognate enzyme neutrophil elastase in sputum from individuals with cystic fibrosis. (18799464)
2008
18
The expression of the mitochondrial gene MT-ND4 is downregulated in cystic fibrosis. (17382898)
2007
19
Variable penetrance and expressivity of the splice altering 5T sequence in the cystic fibrosis gene. (17394391)
2007
20
The role of cystic fibrosis gene mutations in determining susceptibility to chronic pancreatitis. (15528020)
2004
21
Role of polymorphic variants of cytochrome P450 genes (CYP1A1, CYP2E1) and microsomal epoxide hydrolase (mEPHX) in pathogenesis of cystic fibrosis and chronic respiratory tract diseases]. (14593914)
2003
22
Development of a diagnostic PCR assay that targets a heat-shock protein gene (groES) for detection of Pseudomonas spp. in cystic fibrosis patients. (12909651)
2003
23
Antineutrophil cytoplasmic antibodies directed against bactericidal/permeability-increasing protein detected in children with cystic fibrosis inhibit neutrophil-mediated killing of Pseudomonas aeruginosa. (12593970)
2003
24
Characterization of disease-associated mutations affecting an exonic splicing enhancer and two cryptic splice sites in exon 13 of the cystic fibrosis transmembrane conductance regulator gene. (12913074)
2003
25
Normal function of the cystic fibrosis conductance regulator protein can be associated with homozygous (Delta)F508 mutation. (12409506)
2002
26
Mannose-binding lectin (MBL) therapy in an MBL-deficient patient with severe cystic fibrosis lung disease. (11836800)
2002
27
Erythrocyte membrane ATP binding cassette (ABC) proteins: MRP1 and CFTR as well as CD39 (ecto-apyrase) involved in RBC ATP transport and elevated blood plasma ATP of cystic fibrosis. (11358378)
2001
28
Cystic fibrosis transmembrane conductance regulator and H+ permeability in regulation of Golgi pH. (11875264)
2001
29
Role of cystic fibrosis transmembrane conductance regulator in pulmonary clearance of Pseudomonas aeruginosa in vivo. (11034402)
2000
30
Restoration of bacterial killing activity of human respiratory cystic fibrosis cells through cationic vector-mediated cystic fibrosis transmembrane conductance regulator gene transfer. (10466626)
1999
31
Effects of short-term inhaled fluticasone on oxidative burst of sputum cells in cystic fibrosis patients. (10596705)
1999
32
Immunoreactive pancreatic Reg protein in sera from cystic fibrosis patients with and without pancreatic insufficiency. (10075963)
1999
33
Detection of a cystic fibrosis modifier locus for meconium ileus on human chromosome 19q13. (10369249)
1999
34
Comparison of fecal elastase-1 determination with the secretin-cholecystokinin test in patients with cystic fibrosis. (10192202)
1999
35
Regulation of electrogenic anion secretion in normal and cystic fibrosis gallbladder mucosa. (9862842)
1999
36
Channel-lining residues in the M3 membrane-spanning segment of the cystic fibrosis transmembrane conductance regulator. (9724537)
1998
37
Cystic fibrosis transmembrane conductance regulator expression in human hypothalamus. (9592064)
1998
38
Modulation of cystic fibrosis transmembrane conductance regulator gene - expression by elevation of intracellular cyclic AMP. (9580572)
1998
39
What we know and what we do not know about cystic fibrosis transmembrane conductance regulator. (9759549)
1998
40
Subdural empyema due to Burkholderia cepacia: an unusual complication after lung transplantation for cystic fibrosis. (9204013)
1997
41
Surfactant composition in infants and young children with cystic fibrosis. (9230741)
1997
42
A cystic fibrosis transmembrane conductance regulator splice variant with partial penetrance associated with variable cystic fibrosis presentations. (9196095)
1997
43
Prevalence of allergic bronchopulmonary aspergillosis and atopy in adult patients with cystic fibrosis. (8769507)
1996
44
Two novel rare frameshift mutations (2423 del G in exon 13 and 1215 del G in exon 7) and one novel rare sequence variation (3271 + 18 C or T) identified in a patient with cystic fibrosis. (7524910)
1994
45
Increased coexpression of CFTR and S100 calcium binding proteins MRP8 and MRP14 mRNAs in cystic fibrosis human tracheal gland cells. (7517672)
1994
46
Mild pulmonary, but severe hepatic disease in a cystic fibrosis patient homozygous for a frameshift mutation in the regulatory domain of the CFTR. (7686577)
1993
47
Frequency of delta F508 and haplotype association in Austrian cystic fibrosis families. (1377659)
1992
48
Expression patterns of genes encoding elastase and controlling mucoidy: co-ordinate regulation of two virulence factors in Pseudomonas aeruginosa isolates from cystic fibrosis. (2128528)
1990
49
T cell receptor beta chain polymorphisms are associated with cystic fibrosis. (2568490)
1989
50
Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA. (2475911)
1989

Variations for Cystic Fibrosis

About this section
Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 8dbSNP
See all sources

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

65 (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

Clinvar genetic disease variations for Cystic Fibrosis:

1 (show all 231)
id Gene Name Type Significance SNP ID Assembly Location
1CFTRNM_000492.3(CFTR): c.1397C> G (p.Ser466Ter)single nucleotide variantPathogenicrs121908805GRCh37Chr 7, 117199522: 117199522
2CFTRNM_000492.3(CFTR): c.1400T> C (p.Leu467Pro)single nucleotide variantLikely pathogenic, Pathogenicrs139573311GRCh37Chr 7, 117199525: 117199525
3CFTRNM_000492.3(CFTR): c.1585-8G> Asingle nucleotide variantPathogenicrs193922503GRCh37Chr 7, 117227785: 117227785
4CFTRNM_000492.3(CFTR): c.1865G> A (p.Gly622Asp)single nucleotide variantLikely pathogenic, Pathogenicrs121908759GRCh37Chr 7, 117232086: 117232086
5CFTRNM_000492.3(CFTR): c.1911delG (p.Gln637Hisfs)deletionPathogenicrs121908778GRCh37Chr 7, 117232132: 117232132
6CFTRNM_000492.3(CFTR): c.2012delT (p.Leu671Terfs)deletionPathogenicrs121908812GRCh37Chr 7, 117232233: 117232233
7CFTRNM_000492.3(CFTR): c.2051_2052delAAinsG (p.Lys684Serfs)indelPathogenicrs121908799GRCh37Chr 7, 117232272: 117232273
8CFTRNM_000492.3(CFTR): c.2052dupA (p.Gln685Thrfs)duplicationPathogenicrs121908786GRCh37Chr 7, 117232273: 117232274
9CFTRNM_000492.3(CFTR): c.224G> A (p.Arg75Gln)single nucleotide variantBenign, Likely benign, Pathogenic, Uncertain significancers1800076GRCh37Chr 7, 117149147: 117149147
10CFTRNM_000492.3(CFTR): c.273+3A> Csingle nucleotide variantLikely pathogenic, Pathogenicrs74467662GRCh37Chr 7, 117149199: 117149199
11CFTRNM_000492.3(CFTR): c.2988G> A (p.Gln996=)single nucleotide variantPathogenic, Uncertain significancers121908797GRCh37Chr 7, 117246807: 117246807
12CFTRNM_000492.3(CFTR): c.3140-26A> Gsingle nucleotide variantPathogenicrs76151804GRCh37Chr 7, 117251609: 117251609
13CFTRNM_000492.3(CFTR): c.3209G> A (p.Arg1070Gln)single nucleotide variantPathogenicrs78769542GRCh37Chr 7, 117251704: 117251704
14CFTRNM_000492.3(CFTR): c.3454G> C (p.Asp1152His)single nucleotide variantPathogenicrs75541969GRCh37Chr 7, 117254753: 117254753
15CFTRNM_000492.3(CFTR): c.3528delC (p.Lys1177Serfs)deletionPathogenicrs121908747GRCh37Chr 7, 117267635: 117267635
16CFTRNM_000492.3(CFTR): c.4046G> A (p.Gly1349Asp)single nucleotide variantPathogenicrs193922525GRCh37Chr 7, 117304824: 117304824
17CFTRNM_000492.3(CFTR): c.3067_3072delATAGTG (p.Ile1023_Val1024del)deletionPathogenicrs121908767GRCh37Chr 7, 117250651: 117250656
18CFTRNM_000492.3(CFTR): c.2052delA (p.Lys684Asnfs)deletionPathogenicrs121908746GRCh37Chr 7, 117232273: 117232273
19CFTRNM_000492.3(CFTR): c.579+1G> Tsingle nucleotide variantPathogenicrs77188391GRCh37Chr 7, 117174420: 117174420
20CFTRNM_000492.3(CFTR): c.2657+5G> Asingle nucleotide variantPathogenicrs80224560GRCh37Chr 7, 117242922: 117242922
21CFTRNM_000492.3(CFTR): c.3773dupT (p.Leu1258Phefs)duplicationPathogenicrs121908789GRCh37Chr 7, 117282547: 117282547
22CFTRNM_000492.3(CFTR): c.3276C> A (p.Tyr1092Ter)single nucleotide variantPathogenicrs121908761GRCh37Chr 7, 117251771: 117251771
23CFTRNM_000492.3(CFTR): c.178G> T (p.Glu60Ter)single nucleotide variantPathogenicrs77284892GRCh37Chr 7, 117149101: 117149101
24CFTRNM_000492.3(CFTR): c.1645A> C (p.Ser549Arg)single nucleotide variantPathogenicrs121908757GRCh37Chr 7, 117227853: 117227853
25CFTRNM_000492.3(CFTR): c.1923_1931delCTCAAAACTinsA (p.Ser641Argfs)indelPathogenicrs121908779GRCh37Chr 7, 117232144: 117232152
26CFTRNM_000492.3(CFTR): c.489+1G> Tsingle nucleotide variantPathogenicrs78756941GRCh37Chr 7, 117171169: 117171169
27CFTRNM_000492.3(CFTR): c.366T> A (p.Tyr122Ter)single nucleotide variantPathogenicrs79660178GRCh37Chr 7, 117171045: 117171045
28CFTRNM_000492.3(CFTR): c.3302T> A (p.Met1101Lys)single nucleotide variantPathogenicrs36210737GRCh37Chr 7, 117251797: 117251797
29CFTRNM_000492.3(CFTR): c.3276C> G (p.Tyr1092Ter)single nucleotide variantPathogenicrs121908761GRCh37Chr 7, 117251771: 117251771
30CFTRNM_000492.3(CFTR): c.1647T> G (p.Ser549Arg)single nucleotide variantPathogenicrs121909005GRCh37Chr 7, 117227855: 117227855
31CFTRNM_000492.3(CFTR): c.1075C> A (p.Gln359Lys)single nucleotide variantPathogenicrs76879328GRCh37Chr 7, 117180359: 117180359
32CFTRNM_000492.3(CFTR): c.223C> T (p.Arg75Ter)single nucleotide variantPathogenicrs121908749GRCh37Chr 7, 117149146: 117149146
33CFTRNM_000492.3(CFTR): c.3587C> G (p.Ser1196Ter)single nucleotide variantPathogenicrs121908763GRCh37Chr 7, 117267694: 117267694
34CFTRNM_000492.3(CFTR): c.274-1G> Asingle nucleotide variantPathogenicrs121908792GRCh37Chr 7, 117170952: 117170952
35CFTRNM_000492.3(CFTR): c.1680-1G> Asingle nucleotide variantPathogenicrs121908794GRCh37Chr 7, 117230406: 117230406
36CFTRNM_000492.3(CFTR): c.313delA (p.Ile105Serfs)deletionPathogenicrs121908801GRCh37Chr 7, 117170992: 117170992
37CFTRNM_000492.3(CFTR): c.1766+5G> Tsingle nucleotide variantPathogenicrs121908796GRCh37Chr 7, 117230498: 117230498
38CFTRNM_000492.3(CFTR): c.349C> T (p.Arg117Cys)single nucleotide variantPathogenicrs77834169GRCh37Chr 7, 117171028: 117171028
39CFTRNM_000492.3(CFTR): c.532G> A (p.Gly178Arg)single nucleotide variantPathogenicrs80282562GRCh37Chr 7, 117174372: 117174372
40CFTRNM_000492.3(CFTR): c.803delA (p.Asn268Ilefs)deletionPathogenicrs121908772GRCh37Chr 7, 117176661: 117176661
41CFTRNM_000492.3(CFTR): c.935_937delTCT (p.Phe312del)deletionPathogenicrs121908768GRCh37Chr 7, 117180219: 117180221
42CFTRNM_000492.3(CFTR): c.988G> T (p.Gly330Ter)single nucleotide variantPathogenicrs79031340GRCh37Chr 7, 117180272: 117180272
43CFTRNM_000492.3(CFTR): c.1090T> C (p.Ser364Pro)single nucleotide variantPathogenicrs78909279GRCh37Chr 7, 117180374: 117180374
44CFTRNM_000492.3(CFTR): c.1007T> A (p.Ile336Lys)single nucleotide variantPathogenicrs397508139GRCh37Chr 7, 117180291: 117180291
45CFTRNM_000492.3(CFTR): c.1021T> C (p.Ser341Pro)single nucleotide variantPathogenicrs397508144GRCh37Chr 7, 117180305: 117180305
46CFTRNM_000492.3(CFTR): c.1022_1023insTC (p.Phe342Hisfs)insertionPathogenicrs387906360GRCh37Chr 7, 117180306: 117180307
47CFTRNM_000492.3(CFTR): c.1116+1G> Asingle nucleotide variantPathogenicrs397508158GRCh37Chr 7, 117180401: 117180401
48CFTRNM_000492.3(CFTR): c.1128dupA (p.Gln378Alafs)duplicationPathogenicrs397508163GRCh37Chr 7, 117182080: 117182081
49CFTRNM_000492.3(CFTR): c.115C> T (p.Gln39Ter)single nucleotide variantPathogenicrs397508168GRCh37Chr 7, 117144368: 117144368
50CFTRNM_000492.3(CFTR): c.1202G> A (p.Trp401Ter)single nucleotide variantPathogenicrs397508174GRCh37Chr 7, 117182155: 117182155
51CFTRNM_000492.3(CFTR): c.1203G> A (p.Trp401Ter)single nucleotide variantPathogenicrs397508175GRCh37Chr 7, 117182156: 117182156
52CFTRNM_000492.3(CFTR): c.1209+1G> Asingle nucleotide variantPathogenicrs397508176GRCh37Chr 7, 117182163: 117182163
53CFTRNM_000492.3(CFTR): c.1327G> T (p.Asp443Tyr)single nucleotide variantPathogenicrs147422190GRCh37Chr 7, 117188812: 117188812
54CFTRNM_000492.3(CFTR): c.1329_1330insAGAT (p.Ile444Argfs)insertionPathogenicrs397508189GRCh37Chr 7, 117188814: 117188815
55CFTRNM_000492.3(CFTR): c.1393-1G> Asingle nucleotide variantPathogenicrs397508200GRCh37Chr 7, 117199517: 117199517
56CFTRNM_000492.3(CFTR): c.1397C> A (p.Ser466Ter)single nucleotide variantPathogenicrs121908805GRCh37Chr 7, 117199522: 117199522
57CFTRNM_000492.3(CFTR): c.1466C> A (p.Ser489Ter)single nucleotide variantPathogenicrs397508211GRCh37Chr 7, 117199591: 117199591
58CFTRNM_000492.3(CFTR): c.1753G> T (p.Glu585Ter)single nucleotide variantPathogenicrs397508296GRCh37Chr 7, 117230480: 117230480
59CFTRNM_000492.3(CFTR): c.1766+3A> Gsingle nucleotide variantPathogenicrs397508298GRCh37Chr 7, 117230496: 117230496
60CFTRNM_000492.3(CFTR): c.1853T> C (p.Ile618Thr)single nucleotide variantPathogenicrs139468767GRCh37Chr 7, 117232074: 117232074
61CFTRNM_000492.3(CFTR): c.1A> G (p.Met1Val)single nucleotide variantPathogenicrs397508328GRCh37Chr 7, 117120149: 117120149
62CFTRNM_000492.3(CFTR): c.200C> T (p.Pro67Leu)single nucleotide variantPathogenicrs368505753GRCh37Chr 7, 117149123: 117149123
63CFTRNM_000492.3(CFTR): c.2125C> T (p.Arg709Ter)single nucleotide variantPathogenicrs121908760GRCh37Chr 7, 117232346: 117232346
64CFTRNM_000492.3(CFTR): c.2195T> G (p.Leu732Ter)single nucleotide variantPathogenicrs397508350GRCh37Chr 7, 117232416: 117232416
65CFTRNM_000492.3(CFTR): c.2215delG (p.Val739Tyrfs)deletionPathogenicrs397508353GRCh37Chr 7, 117232436: 117232436
66CFTRNM_000492.3(CFTR): c.2290C> T (p.Arg764Ter)single nucleotide variantPathogenicrs121908810GRCh37Chr 7, 117232511: 117232511
67CFTRNM_000492.3(CFTR): c.2464G> T (p.Glu822Ter)single nucleotide variantPathogenicrs397508378GRCh37Chr 7, 117232685: 117232685
68CFTRNM_000492.3(CFTR): c.2491G> T (p.Glu831Ter)single nucleotide variantPathogenicrs397508387GRCh37Chr 7, 117234984: 117234984
69CFTRNM_000492.3(CFTR): c.2537G> A (p.Trp846Ter)single nucleotide variantPathogenicrs397508393GRCh37Chr 7, 117235030: 117235030
70CFTRNM_000492.3(CFTR): c.2583delT (p.Phe861Leufs)deletionPathogenicrs397508399GRCh37Chr 7, 117235076: 117235076
71CFTRNM_000492.3(CFTR): c.2657+2_2657+3insAinsertionPathogenicrs397508414GRCh37Chr 7, 117242919: 117242920
72CFTRNM_000492.3(CFTR): c.273+1G> Asingle nucleotide variantPathogenicrs121908791GRCh37Chr 7, 117149197: 117149197
73CFTRNM_000492.3(CFTR): c.2780T> C (p.Leu927Pro)single nucleotide variantPathogenicrs397508435GRCh37Chr 7, 117243708: 117243708
74CFTRNM_000492.3(CFTR): c.2834C> T (p.Ser945Leu)single nucleotide variantPathogenicrs397508442GRCh37Chr 7, 117243762: 117243762
75CFTRNM_000492.3(CFTR): c.2875delG (p.Ala959Hisfs)deletionPathogenicrs397508447GRCh37Chr 7, 117243803: 117243803
76CFTRNM_000492.3(CFTR): c.2908G> C (p.Gly970Arg)single nucleotide variantPathogenicrs397508453GRCh37Chr 7, 117243836: 117243836
77CFTRNM_000492.3(CFTR): c.292C> T (p.Gln98Ter)single nucleotide variantPathogenicrs397508461GRCh37Chr 7, 117170971: 117170971
78CFTRNM_000492.3(CFTR): c.2989-1G> Asingle nucleotide variantPathogenicrs397508470GRCh37Chr 7, 117250572: 117250572
79CFTRNM_000492.3(CFTR): c.3230T> C (p.Leu1077Pro)single nucleotide variantPathogenicrs139304906GRCh37Chr 7, 117251725: 117251725
80CFTRNM_000492.3(CFTR): c.325_327delTATinsG (p.Tyr109Glyfs)indelPathogenicrs121908798GRCh37Chr 7, 117171004: 117171006
81CFTRNM_000492.3(CFTR): c.3310G> T (p.Glu1104Ter)single nucleotide variantPathogenicrs397508538GRCh37Chr 7, 117251805: 117251805
82CFTRNM_000492.3(CFTR): c.3612G> A (p.Trp1204Ter)single nucleotide variantPathogenicrs121908765GRCh37Chr 7, 117267719: 117267719
83CFTRNM_000492.3(CFTR): c.3731G> A (p.Gly1244Glu)single nucleotide variantPathogenicrs267606723GRCh37Chr 7, 117282505: 117282505
84CFTRNM_000492.3(CFTR): c.3731G> T (p.Gly1244Val)single nucleotide variantPathogenicrs267606723GRCh37Chr 7, 117282505: 117282505
85CFTRNM_000492.3(CFTR): c.3885dupT (p.Ser1297Phefs)duplicationPathogenicrs121908808GRCh37Chr 7, 117292906: 117292907
86CFTRNM_000492.3(CFTR): c.4077_4080delTGTTinsAA (p.Val1360Thrfs)indelPathogenicrs397508668GRCh37Chr 7, 117304855: 117304858
87CFTRNM_000492.3(CFTR): c.4251delA (p.Glu1418Argfs)deletionPathogenicrs397508706GRCh37Chr 7, 117306970: 117306970
88CFTRNM_000492.3(CFTR): c.4426C> T (p.Gln1476Ter)single nucleotide variantPathogenicrs374705585GRCh37Chr 7, 117307145: 117307145
89CFTRNM_000492.3(CFTR): c.442delA (p.Ile148Leufs)deletionPathogenicrs121908770GRCh37Chr 7, 117171121: 117171121
90CFTRNM_000492.3(CFTR): c.531delT (p.Ile177Metfs)deletionPathogenicrs121908771GRCh37Chr 7, 117174371: 117174371
91CFTRNM_000492.3(CFTR): c.577G> T (p.Glu193Ter)single nucleotide variantPathogenicrs397508759GRCh37Chr 7, 117174417: 117174417
92CFTRNM_000492.3(CFTR): c.579+3A> Gsingle nucleotide variantPathogenicrs397508761GRCh37Chr 7, 117174422: 117174422
93CFTRNM_000492.3(CFTR): c.579+5G> Asingle nucleotide variantPathogenicrs78440224GRCh37Chr 7, 117174424: 117174424
94CFTRNM_000492.3(CFTR): c.580-1G> Tsingle nucleotide variantPathogenicrs121908793GRCh37Chr 7, 117175301: 117175301
95CFTRNM_000492.3(CFTR): c.595C> T (p.His199Tyr)single nucleotide variantPathogenicrs121908802GRCh37Chr 7, 117175317: 117175317
96CFTRNM_000492.3(CFTR): c.613C> T (p.Pro205Ser)single nucleotide variantPathogenicrs121908803GRCh37Chr 7, 117175335: 117175335
97CFTRNM_000492.3(CFTR): c.658C> T (p.Gln220Ter)single nucleotide variantPathogenicrs397508778GRCh37Chr 7, 117175380: 117175380
98CFTRNM_000492.3(CFTR): c.1647T> G (p.Ser549Arg)single nucleotide variantPathogenicrs121909005GRCh37Chr 7, 117227855: 117227855
99CFTRNM_000492.3: c.1679+1.6kbA> Gundetermined variantPathogenic
100CFTRNM_000492.3(CFTR): c.2453delT (p.Leu818Trpfs)deletionPathogenicrs397515498GRCh37Chr 7, 117232674: 117232674
101CFTRNM_000492.3(CFTR): c.3964-78_4242+577deldeletionPathogenicGRCh38Chr 7, 117664610: 117666141
102CFTRNM_000492.3: c.54-5940_273+10250del21kbdeletionPathogenic
103CFTRNM_000492.3(CFTR): c.1521_1523delCTT (p.Phe508delPhe)deletionPathogenic, risk factorrs113993960GRCh37Chr 7, 117199646: 117199648
104CFTRNM_000492.3(CFTR): c.1519_1521delATC (p.Ile507del)deletionPathogenicrs121908745GRCh37Chr 7, 117199644: 117199646
105CFTRNM_000492.3(CFTR): c.1477C> T (p.Gln493Ter)single nucleotide variantPathogenicrs77101217GRCh37Chr 7, 117199602: 117199602
106CFTRNM_000492.3(CFTR): c.328G> C (p.Asp110His)single nucleotide variantPathogenicrs113993958GRCh37Chr 7, 117171007: 117171007
107CFTRNM_000492.3(CFTR): c.350G> A (p.Arg117His)single nucleotide variantLikely pathogenic, Pathogenicrs78655421GRCh37Chr 7, 117171029: 117171029
108CFTRNM_000492.3(CFTR): c.1040G> C (p.Arg347Pro)single nucleotide variantPathogenicrs77932196GRCh37Chr 7, 117180324: 117180324
109CFTRNM_000492.3(CFTR): c.1364C> A (p.Ala455Glu)single nucleotide variantPathogenicrs74551128GRCh37Chr 7, 117188849: 117188849
110CFTRNM_000492.3(CFTR): c.1585-1G> Asingle nucleotide variantPathogenicrs76713772GRCh37Chr 7, 117227792: 117227792
111CFTRNM_000492.3(CFTR): c.1679G> C (p.Arg560Thr)single nucleotide variantPathogenicrs80055610GRCh37Chr 7, 117227887: 117227887
112CFTRNM_000492.3(CFTR): c.1687T> A (p.Tyr563Asn)single nucleotide variantPathogenicrs121909006GRCh37Chr 7, 117230414: 117230414
113CFTRNM_000492.3(CFTR): c.1624G> T (p.Gly542Ter)single nucleotide variantPathogenicrs113993959GRCh37Chr 7, 117227832: 117227832
114CFTRNM_000492.3(CFTR): c.1646G> A (p.Ser549Asn)single nucleotide variantPathogenicrs121908755GRCh37Chr 7, 117227854: 117227854
115CFTRNM_000492.3(CFTR): c.1646G> T (p.Ser549Ile)single nucleotide variantPathogenicrs121908755GRCh37Chr 7, 117227854: 117227854
116CFTRNM_000492.3(CFTR): c.1721C> A (p.Pro574His)single nucleotide variantPathogenicrs121908758GRCh37Chr 7, 117230448: 117230448
117CFTRNM_000492.3(CFTR): c.1652G> A (p.Gly551Asp)single nucleotide variantPathogenicrs75527207GRCh37Chr 7, 117227860: 117227860
118CFTRNM_000492.3(CFTR): c.2421_2422dupAT (p.Ser809Ilefs)duplicationPathogenicrs387906359GRCh37Chr 7, 117232643: 117232644
119CFTRNM_000492.3(CFTR): c.1657C> T (p.Arg553Ter)single nucleotide variantPathogenicrs74597325GRCh37Chr 7, 117227865: 117227865
120CFTRNM_000492.3(CFTR): c.1675G> A (p.Ala559Thr)single nucleotide variantPathogenicrs75549581GRCh37Chr 7, 117227883: 117227883
121CFTRNM_000492.3(CFTR): c.3659delC (p.Thr1220Lysfs)deletionPathogenicrs121908811GRCh37Chr 7, 117267766: 117267766
122CFTRNM_000492.3(CFTR): c.3764C> A (p.Ser1255Ter)single nucleotide variantPathogenicrs76649725GRCh37Chr 7, 117282538: 117282538
123CFTRNM_000492.3(CFTR): c.2538G> A (p.Trp846Ter)single nucleotide variantPathogenicrs267606722GRCh37Chr 7, 117235031: 117235031
124CFTRNM_000492.3(CFTR): c.2738A> G (p.Tyr913Cys)single nucleotide variantPathogenicrs121909008GRCh37Chr 7, 117243666: 117243666
125CFTRNM_000492.3(CFTR): c.3846G> A (p.Trp1282Ter)single nucleotide variantPathogenicrs77010898GRCh37Chr 7, 117282620: 117282620
126CFTRNM_000492.3(CFTR): c.1373G> T (p.Gly458Val)single nucleotide variantPathogenicrs121909009GRCh37Chr 7, 117188858: 117188858
127CFTRNM_000492.3(CFTR): c.3947G> A (p.Trp1316Ter)single nucleotide variantPathogenicrs121909010GRCh37Chr 7, 117292969: 117292969
128CFTRNM_000492.3(CFTR): c.1021_1022dupTC (p.Phe342Hisfs)duplicationPathogenicrs387906360GRCh37Chr 7, 117180306: 117180307
129CFTRNM_000492.3(CFTR): c.1081delT (p.Trp361Glyfs)deletionPathogenicrs387906361GRCh37Chr 7, 117180365: 117180365
130CFTRNM_000492.3(CFTR): c.3909C> G (p.Asn1303Lys)single nucleotide variantPathogenicrs80034486GRCh37Chr 7, 117292931: 117292931
131CFTRNM_000492.3(CFTR): c.3484C> T (p.Arg1162Ter)single nucleotide variantPathogenicrs74767530GRCh37Chr 7, 117267591: 117267591
132CFTRNM_000492.3(CFTR): c.3717+4A> Gsingle nucleotide variantPathogenicrs387906362GRCh37Chr 7, 117267828: 117267828
133CFTRNM_000492.3(CFTR): c.1000C> T (p.Arg334Trp)single nucleotide variantPathogenicrs121909011GRCh37Chr 7, 117180284: 117180284
134CFTRNM_000492.3(CFTR): c.1545_1546delTA (p.Tyr515Terfs)deletionPathogenicrs121908776GRCh37Chr 7, 117199670: 117199671
135CFTRNM_000492.3(CFTR): c.2551C> T (p.Arg851Ter)single nucleotide variantPathogenicrs121909012GRCh37Chr 7, 117235044: 117235044
136CFTRNM_000492.3(CFTR): c.1651G> A (p.Gly551Ser)single nucleotide variantPathogenicrs121909013GRCh37Chr 7, 117227859: 117227859
137CFTRNM_000492.3(CFTR): c.254G> A (p.Gly85Glu)single nucleotide variantPathogenicrs75961395GRCh37Chr 7, 117149177: 117149177
138CFTRNM_000492.3(CFTR): c.3472C> T (p.Arg1158Ter)single nucleotide variantPathogenicrs79850223GRCh37Chr 7, 117267579: 117267579
139CFTRNM_000492.3(CFTR): c.720_741del22 (p.Gly241Glufs)deletionPathogenicrs121908804GRCh37Chr 7, 117175442: 117175463
140CFTRNM_000492.3(CFTR): c.424delA (p.Ile142Phefs)deletionPathogenicrs387906363GRCh37Chr 7, 117171103: 117171103
141CFTRNM_000492.3(CFTR): c.429delT (p.Phe143Leufs)deletionPathogenicrs387906364GRCh37Chr 7, 117171108: 117171108
142CFTRNM_000492.3(CFTR): c.1817_1900del84 (p.Met607_Gln634del)deletionPathogenicrs121908777GRCh37Chr 7, 117232038: 117232121
143CFTRNM_000492.3(CFTR): c.2737_2738insG (p.Tyr913Terfs)insertionPathogenicrs121908788GRCh37Chr 7, 117243665: 117243666
144CFTRNM_000492.3(CFTR): c.1558G> T (p.Val520Phe)single nucleotide variantPathogenicrs77646904GRCh37Chr 7, 117199683: 117199683
145CFTRNM_000492.3(CFTR): c.1572C> A (p.Cys524Ter)single nucleotide variantPathogenicrs121908754GRCh37Chr 7, 117199697: 117199697
146CFTRNM_000492.3(CFTR): c.3873G> C (p.Gln1291His)single nucleotide variantPathogenicrs121909015GRCh37Chr 7, 117282647: 117282647
147CFTRNM_000492.3(CFTR): c.933C> G (p.Phe311Leu)single nucleotide variantPathogenicrs121909016GRCh37Chr 7, 117180217: 117180217
148CFTRNM_000492.3(CFTR): c.1093_1094delCT (p.Leu365Trpfs)deletionPathogenicrs387906365GRCh37Chr 7, 117180377: 117180378
149CFTRNM_000492.3(CFTR): c.1475C> T (p.Ser492Phe)single nucleotide variantPathogenicrs121909017GRCh37Chr 7, 117199600: 117199600
150CFTRNM_000492.3(CFTR): c.1679G> A (p.Arg560Lys)single nucleotide variantPathogenicrs80055610GRCh37Chr 7, 117227887: 117227887
151CFTRNM_000492.3(CFTR): c.2479G> T (p.Glu827Ter)single nucleotide variantPathogenicrs121909018GRCh37Chr 7, 117232700: 117232700
152CFTRNM_000492.3(CFTR): c.3197G> A (p.Arg1066His)single nucleotide variantPathogenicrs121909019GRCh37Chr 7, 117251692: 117251692
153CFTRNM_000492.3(CFTR): c.3199G> A (p.Ala1067Thr)single nucleotide variantPathogenic, Uncertain significancers121909020GRCh37Chr 7, 117251694: 117251694
154CFTRNM_000492.3(CFTR): c.3873+1G> Asingle nucleotide variantPathogenicrs143570767GRCh37Chr 7, 117282648: 117282648
155CFTRNM_000492.3(CFTR): c.3184_3188dupCTATG (p.Trp1063Cysfs)duplicationPathogenicrs387906366GRCh37Chr 7, 117251679: 117251683
156CFTRNM_000492.3(CFTR): c.3196C> T (p.Arg1066Cys)single nucleotide variantPathogenicrs78194216GRCh37Chr 7, 117251691: 117251691
157CFTRNM_000492.3(CFTR): c.948delT (p.Phe316Leufs)deletionPathogenicrs121908744GRCh37Chr 7, 117180232: 117180232
158CFTRNM_000492.3(CFTR): c.3808G> A (p.Asp1270Asn)single nucleotide variantPathogenicrs11971167GRCh37Chr 7, 117282582: 117282582
159CFTRNM_000492.3(CFTR): c.1727G> C (p.Gly576Ala)single nucleotide variantPathogenic, Uncertain significancers1800098GRCh37Chr 7, 117230454: 117230454
160CFTRNM_000492.3(CFTR): c.3717+12191C> Tsingle nucleotide variantPathogenicrs75039782GRCh37Chr 7, 117280015: 117280015
161CFTRNM_000492.3(CFTR): c.3848G> T (p.Arg1283Met)single nucleotide variantPathogenicrs77902683GRCh37Chr 7, 117282622: 117282622
162CFTRNM_000492.3(CFTR): c.1766+1G> Asingle nucleotide variantPathogenicrs121908748GRCh37Chr 7, 117230494: 117230494
163CFTRNM_000492.3(CFTR): c.744-14_744-3delTGATTGATTTACdeletionPathogenicrs387906367GRCh37Chr 7, 117176588: 117176599
164CFTRNM_000492.3(CFTR): c.1040G> T (p.Arg347Leu)single nucleotide variantPathogenicrs77932196GRCh37Chr 7, 117180324: 117180324
165CFTRNM_000492.3(CFTR): c.1046C> T (p.Ala349Val)single nucleotide variantPathogenicrs121909021GRCh37Chr 7, 117180330: 117180330
166CFTRNM_000492.3(CFTR): c.1601C> A (p.Ala534Glu)single nucleotide variantPathogenicrs387906368GRCh37Chr 7, 117227809: 117227809
167CFTRNM_000492.3(CFTR): c.2146A> T (p.Lys716Ter)single nucleotide variantPathogenicrs121909023GRCh37Chr 7, 117232367: 117232367
168CFTRNM_000492.3(CFTR): c.2490+1G> Asingle nucleotide variantPathogenicrs141158996GRCh37Chr 7, 117232712: 117232712
169CFTRNM_000492.3(CFTR): c.3712C> T (p.Gln1238Ter)single nucleotide variantPathogenicrs121908766GRCh37Chr 7, 117267819: 117267819
170CFTRNM_000492.3(CFTR): c.3718-1G> Asingle nucleotide variantPathogenicrs387906369GRCh37Chr 7, 117282491: 117282491
171CFTRNM_000492.3(CFTR): c.3767dupC (p.Leu1258Phefs)duplicationPathogenicrs387906370GRCh37Chr 7, 117282542: 117282542
172CFTRNM_000492.3(CFTR): c.171G> A (p.Trp57Ter)single nucleotide variantPathogenicrs121909025GRCh37Chr 7, 117149094: 117149094
173CFTRNM_000492.3(CFTR): c.3937C> T (p.Gln1313Ter)single nucleotide variantPathogenicrs121909026GRCh37Chr 7, 117292959: 117292959
174CFTRNM_000492.3(CFTR): c.274G> A (p.Glu92Lys)single nucleotide variantPathogenicrs121908751GRCh37Chr 7, 117170953: 117170953
175CFTRNM_000492.3(CFTR): c.1040G> A (p.Arg347His)single nucleotide variantPathogenicrs77932196GRCh37Chr 7, 117180324: 117180324
176CFTRNM_000492.3(CFTR): c.271G> A (p.Gly91Arg)single nucleotide variantPathogenicrs121908750GRCh37Chr 7, 117149194: 117149194
177CFTRNM_000492.3(CFTR): c.3857T> C (p.Phe1286Ser)single nucleotide variantPathogenicrs121909028GRCh37Chr 7, 117282631: 117282631
178CFTRNM_000492.3(CFTR): c.2175dupA (p.Glu726Argfs)duplicationPathogenicrs121908787GRCh37Chr 7, 117232396: 117232397
179CFTRNM_000492.3(CFTR): c.274G> T (p.Glu92Ter)single nucleotide variantPathogenicrs121908751GRCh37Chr 7, 117170953: 117170953
180CFTRNM_000492.3(CFTR): c.1438G> T (p.Gly480Cys)single nucleotide variantPathogenicrs79282516GRCh37Chr 7, 117199563: 117199563
181CFTRNM_000492.3(CFTR): c.459_476del18 (p.Ala155_Ile160del)deletionPathogenicrs387906371GRCh37Chr 7, 117171138: 117171155
182CFTRNM_000492.3(CFTR): c.617T> G (p.Leu206Trp)single nucleotide variantPathogenicrs121908752GRCh37Chr 7, 117175339: 117175339
183CFTRCFTR, GLN524HISsingle nucleotide variantPathogenic
184CFTRNM_000492.3(CFTR): c.3763T> C (p.Ser1255Pro)single nucleotide variantPathogenicrs121909041GRCh37Chr 7, 117282537: 117282537
185CFTRNM_000492.3(CFTR): c.1013C> T (p.Thr338Ile)single nucleotide variantPathogenicrs77409459GRCh37Chr 7, 117180297: 117180297
186CFTRNM_000492.3(CFTR): c.3266G> A (p.Trp1089Ter)single nucleotide variantPathogenicrs78802634GRCh37Chr 7, 117251761: 117251761
187CFTRNM_000492.3(CFTR): c.3878_3881delTATT (p.Ile1295Phefs)deletionPathogenicrs387906373GRCh37Chr 7, 117292900: 117292903
188CFTRNM_000492.3(CFTR): c.1666A> G (p.Ile556Val)single nucleotide variantLikely pathogenic, Pathogenicrs75789129GRCh37Chr 7, 117227874: 117227874
189CFTRNM_000492.3(CFTR): c.326A> G (p.Tyr109Cys)single nucleotide variantPathogenicrs121909031GRCh37Chr 7, 117171005: 117171005
190CFTRNM_000492.3(CFTR): c.1055G> A (p.Arg352Gln)single nucleotide variantPathogenicrs121908753GRCh37Chr 7, 117180339: 117180339
191CFTRNM_000492.3(CFTR): c.273+4A> Gsingle nucleotide variantPathogenicrs387906374GRCh37Chr 7, 117149200: 117149200
192CFTRNM_000492.3(CFTR): c.1654C> T (p.Gln552Ter)single nucleotide variantPathogenicrs76554633GRCh37Chr 7, 117227862: 117227862
193CFTRNM_000492.3(CFTR): c.1943A> T (p.Asp648Val)single nucleotide variantPathogenicrs121909033GRCh37Chr 7, 117232164: 117232164
194CFTRNM_000492.3(CFTR): c.2128A> T (p.Lys710Ter)single nucleotide variantPathogenicrs75115087GRCh37Chr 7, 117232349: 117232349
195CFTRNM_000492.3(CFTR): c.2668C> T (p.Gln890Ter)single nucleotide variantPathogenicrs79633941GRCh37Chr 7, 117243596: 117243596
196CFTRNM_000492.3(CFTR): c.2735C> T (p.Ser912Leu)single nucleotide variantBenign, Pathogenicrs121909034GRCh37Chr 7, 117243663: 117243663
197CFTRNM_000492.3(CFTR): c.805_806delAT (p.Ile269Profs)deletionPathogenicrs121908773GRCh37Chr 7, 117176663: 117176664
198CFTRNM_000492.3(CFTR): c.2845C> T (p.His949Tyr)single nucleotide variantPathogenicrs121909035GRCh37Chr 7, 117243773: 117243773
199CFTRNM_000492.3(CFTR): c.3194T> C (p.Leu1065Pro)single nucleotide variantPathogenicrs121909036GRCh37Chr 7, 117251689: 117251689
200CFTRNM_000492.3(CFTR): c.3212A> C (p.Gln1071Pro)single nucleotide variantPathogenicrs121909037GRCh37Chr 7, 117251707: 117251707
201CFTRNM_000492.3(CFTR): c.3254A> G (p.His1085Arg)single nucleotide variantPathogenicrs79635528GRCh37Chr 7, 117251749: 117251749
202CFTRNM_000492.3(CFTR): c.3276C> G (p.Tyr1092Ter)single nucleotide variantPathogenicrs121908761GRCh37Chr 7, 117251771: 117251771
203CFTRNM_000492.3(CFTR): c.3611G> A (p.Trp1204Ter)single nucleotide variantPathogenicrs121908764GRCh37Chr 7, 117267718: 117267718
204CFTRNM_000492.3(CFTR): c.1083delG (p.Trp361Cysfs)deletionPathogenicrs387906375GRCh37Chr 7, 117180367: 117180367
205CFTRNM_000492.3(CFTR): c.3659C> T (p.Thr1220Ile)single nucleotide variantPathogenicrs1800123GRCh37Chr 7, 117267766: 117267766
206CFTRNM_000492.3(CFTR): c.3700A> G (p.Ile1234Val)single nucleotide variantPathogenicrs75389940GRCh37Chr 7, 117267807: 117267807
207CFTRNM_000492.3(CFTR): c.3746G> A (p.Gly1249Glu)single nucleotide variantPathogenicrs121909040GRCh37Chr 7, 117282520: 117282520
208CFTRNM_000492.3(CFTR): c.3752G> A (p.Ser1251Asn)single nucleotide variantPathogenicrs74503330GRCh37Chr 7, 117282526: 117282526
209CFTRNM_000492.3(CFTR): c.3907A> C (p.Asn1303His)single nucleotide variantPathogenicrs121909042GRCh37Chr 7, 117292929: 117292929
210CFTRNM_000492.3(CFTR): c.1477_1478delCA (p.Gln493Valfs)deletionPathogenicrs121908775GRCh37Chr 7, 117199602: 117199603
211CFTRNM_000492.3(CFTR): c.2291delG (p.Arg764Glnfs)deletionPathogenicrs387906376GRCh37Chr 7, 117232512: 117232512
212CFTRNM_000492.3(CFTR): c.3161delA (p.His1054Leufs)deletionPathogenicrs387906377GRCh37Chr 7, 117251656: 117251656
213CFTRNM_000492.3(CFTR): c.3535_3536insTCAA (p.Thr1179Ilefs)insertionPathogenicrs387906378GRCh37Chr 7, 117267642: 117267643
214CFTRNM_000492.3(CFTR): c.4364C> G (p.Ser1455Ter)single nucleotide variantPathogenicrs121909043GRCh37Chr 7, 117307083: 117307083
215CFTRNM_000492.3(CFTR): c.2988+1G> Asingle nucleotide variantPathogenicrs75096551GRCh37Chr 7, 117246808: 117246808
216CFTRNM_000492.3(CFTR): c.1658G> A (p.Arg553Gln)single nucleotide variantPathogenicrs121909044GRCh37Chr 7, 117227866: 117227866
217CFTRNM_000492.3(CFTR): c.-102A=single nucleotide variantPathogenicGRCh37Chr 7, 117120047: 117120047
218CFTRNG_016465.3: g.(37526_37529)_(58606_58609)deletionPathogenicGRCh37Chr 7, 117138363: 117159446
219CFTRNM_000492.3(CFTR): c.3469-20T> Csingle nucleotide variantPathogenicrs373002889GRCh37Chr 7, 117267556: 117267556
220CFTRNM_000492.3(CFTR): c.2991G> C (p.Leu997Phe)single nucleotide variantPathogenic, risk factorrs1800111GRCh37Chr 7, 117250575: 117250575
221CFTRNM_000492.3(CFTR): c.3492dupT (p.Lys1165Terfs)duplicationPathogenicrs387906379GRCh37Chr 7, 117267599: 117267600
222CFTRNM_000492.3(CFTR): c.3744delA (p.Lys1250Argfs)deletionPathogenicrs121908784GRCh37Chr 7, 117282518: 117282518
223CFTRNM_000492.3(CFTR): c.262_263delTT (p.Leu88Ilefs)deletionPathogenicrs121908769GRCh37Chr 7, 117149185: 117149186
224CFTRCFTR, HIS1282TERundetermined variantPathogenic
225CFTRCFTR, ALA445GLUundetermined variantPathogenic
226CFTRNM_000492.3(CFTR): c.19G> T (p.Glu7Ter)single nucleotide variantPathogenicrs121909045GRCh37Chr 7, 117120167: 117120167
227CFTRNM_000492.3(CFTR): c.860dupA (p.Asn287Lysfs)duplicationPathogenicrs387906380GRCh37Chr 7, 117176718: 117176719
228CFTRNM_000492.3(CFTR): c.4056G> C (p.Gln1352His)single nucleotide variantPathogenicrs113857788GRCh37Chr 7, 117304834: 117304834
229CFTRNM_000492.3(CFTR): c.650A> G (p.Glu217Gly)single nucleotide variantPathogenicrs121909046GRCh37Chr 7, 117175372: 117175372
230CFTRNM_000492.3(CFTR): c.2735C> T (p.Ser912Leu)single nucleotide variantBenign, Pathogenicrs121909034GRCh37Chr 7, 117243663: 117243663
231CFTRNM_000492.3(CFTR): c.1682C> A (p.Ala561Glu)single nucleotide variantPathogenicrs121909047GRCh37Chr 7, 117230409: 117230409

Expression for genes affiliated with Cystic Fibrosis

About this section
Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
See all sources
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

About this section
Sources:
51PathCards, 31KEGG, 61Thomson Reuters, 56Reactome, 13EMD Millipore
See all sources

Compounds for genes affiliated with Cystic Fibrosis

About this section
Sources:
46Novoseek, 62Tocris Bioscience, 30IUPHAR, 25HMDB, 12DrugBank, 52PharmGKB, 3BitterDB
See all sources

Compounds related to Cystic Fibrosis according to GeneCards/GeneDecks:

(show top 50)    (show all 77)
idCompoundScoreTop Affiliating Genes
1csp-14610.8DNAJC5, STX1A
2sivelestat sodium hydrate4610.8IL8, ELANE
3curosurf4610.7IL8, ELANE
4dcpib6210.7CFTR, CLCA2
5cftrinh 1726210.7CFTR, CLCA2
6gm-csf46 3011.7IL8, ELANE, TGFB1
7pirfenidone46 6211.7TGFB1, S100A9, S100A8
8sivelestat4610.7ELANE, IL8
9alginate4610.7DNASE1, ELANE, TGFB1
10monosodium urate4610.7S100A8, S100A9, IL8
11survanta4610.7ELANE, IL8
12polymyxin b4610.7DEFB1, IL8, MBL2
13chlorine46 2511.7CFTR, CLCA4, CLCA2, ELANE
14chromanol 293b62 46 3012.7CFTR, CLCA2
15hyaluronic acid46 2511.7TGFB1, ELANE, IL8, DNASE1
16cytochalasin d46 6211.7CFTR, TGFB1, IL8, DNASE1, SLC9A3R1
17tlck4610.7ELANE, IL8
18amiloride46 30 1212.7CFTR, TGFB1, SLC9A3R2
19lonidamine62 4611.7CFTR, CLCA2
20cilomilast4610.7IL8, ELANE
21chloride4610.6CFTR, CLCA2, STX1A, SLC9A3R1
22vitamin d4610.6CFTR, TGFB1, ELANE, DNASE1, MBL2
23dmso4610.6CFTR, TGFB1, DNASE1, S100A9, S100A8
24neopterin4610.6MBL2, IL8, ELANE
25cyclosporin a46 30 6212.6CFTR, TGFB1, ELANE, IL8, DNASE1
26nonidet p404610.6DNASE1, ELANE
27rantes4610.6MBL2, S100A8, IL8, TGFB1, DEFB1
28paraffin4610.6CFTR, TGFB1, DNASE1, S100A8, MBL2
29endotoxin4610.6ELANE, IL8, S100A9, S100A8
30scca14610.6S100A9, S100A8
31sodium46 2511.6CFTR, STX1A, MBL2, SLC9A3R1, SLC9A3R2
32gabexate mesilate4610.6IL8, ELANE
33ulinastatin4610.5ELANE, IL8
34retinoic acid46 2511.5DEFB1, CFTR, TGFB1, ELANE, DNASE1, S100A9
35hbd24610.5DEFB1, IL8
36cysteine4610.5CFTR, ELANE, STX1A, IL8, DNAJC5, S100A8
37estrogen4610.5CFTR, TGFB1, ELANE, DNASE1, MBL2, SLC9A3R1
38h2o24610.5S100A9, DNASE1, IL8, ELANE, CFTR
39actinomycin d4610.5CFTR, TGFB1, IL8, DNASE1
40nitric oxide46 25 1212.5STX1A, IL8, S100A9, S100A8, MBL2, SLC9A3R1
41dexamethasone46 52 30 1213.4MBL2, DEFB1, CFTR, TGFB1, IL8, DNASE1
42serine4610.4CFTR, TGFB1, ELANE, IL8, DNASE1, S100A8
434-ipp6210.4S100A9, S100A8
44git 276210.4S100A9, S100A8
45actinomycin4610.4TGFB1, DNASE1
46lipid4610.3STX1A, S100A9, S100A8, MBL2, SLC9A3R1, SLC9A3R2
47azithromycin46 1211.3CFTR, IL8
48calcium46 52 25 1213.3ATF6, CLCA4, CLCA2, STX1A, DNAJC5, DNASE1
49glutamate4610.2ELANE, STX1A, DNASE1, S100A8, CFTR
50caffeine46 30 3 52 25 1215.0DNASE1, ELANE, CFTR

GO Terms for genes affiliated with Cystic Fibrosis

About this section
Sources:
17Gene Ontology
See all sources

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

idNameGO IDScoreTop Affiliating Genes
1cell surfaceGO:00998610.3MBL2, ELANE, TGFB1, CFTR
2microvillusGO:00590210.2CFTR, TGFB1, SLC9A3R1
3apical plasma membraneGO:01632410.0SLC9A3R2, SLC9A3R1, CLCA4, CFTR
4extracellular regionGO:0055769.8MBL2, DEFB1, TGFB1, CLCA4, CLCA2, ELANE

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

(show all 20)
idNameGO IDScoreTop Affiliating Genes
1neutrophil aggregationGO:07048810.7S100A9, S100A8
2chemokine productionGO:03260210.7S100A9, S100A8
3chloride transmembrane transportGO:190247610.6CLCA2, CLCA4, CFTR
4sequestering of zinc ionGO:03211910.6S100A8, S100A9
5leukocyte migration involved in inflammatory responseGO:00252310.6S100A9, S100A8
6positive regulation of intrinsic apoptotic signaling pathwayGO:200124410.6SLC9A3R1, S100A8, S100A9
7chronic inflammatory responseGO:00254410.6S100A9, S100A8
8neutrophil chemotaxisGO:03059310.6IL8, S100A9, S100A8
9negative regulation of phosphatidylinositol 3-kinase signalingGO:01406710.6SLC9A3R1, SLC9A3R2
10acute inflammatory responseGO:00252610.5S100A8, DEFB1
11endoplasmic reticulum unfolded protein responseGO:03096810.5IL8, ATF6, DERL1
12negative regulation of growth of symbiont in hostGO:04413010.5MBL2, ELANE
13defense response to bacteriumGO:04274210.5MBL2, S100A8, S100A9, ELANE, DEFB1
14inflammatory responseGO:00695410.4S100A8, S100A9, IL8, TGFB1
15regulation of cytoskeleton organizationGO:05149310.4S100A8, S100A9
16response to lipopolysaccharideGO:03249610.4ELANE, S100A9, S100A8
17response to zinc ionGO:01004310.3S100A8, S100A9
18positive regulation of NF-kappaB transcription factor activityGO:05109210.3S100A8, S100A9, TGFB1
19defense response to fungusGO:05083210.2S100A9, S100A8
20cytokine productionGO:00181610.0S100A8, S100A9

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1Toll-like receptor 4 bindingGO:03566210.4S100A9, S100A8
2chloride channel activityGO:00525410.4CLCA2, CLCA4, CFTR
3arachidonic acid bindingGO:05054410.3S100A8, S100A9
4RAGE receptor bindingGO:05078610.3S100A8, S100A9
5ATP-dependent protein bindingGO:04300810.3STX1A, DNAJC5
6protein N-terminus bindingGO:04748510.0STX1A, TGFB1, DCTN4
7protein bindingGO:0055159.8SLC9A3R2, DERL1, ATF6, CFTR, TGFB1, ELANE

Products for genes affiliated with Cystic Fibrosis

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Cystic Fibrosis

About this section
4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet