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Standards Ontologies Notations
cystic fibrosis

Summary
Synonym
  • CF
  • mucoviscidosis
Definition
A syndrome that is characterized by the buildup of thick, sticky mucus that can damage many organs.
Super Class
autosomal recessive disease syndrome
Disease Ontology
DOID:1485
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
ORDO
OMIM
GARD
MGI genotype (from TogoID)
WikiPathways (from TogoID)
Related Genes
Displaying entries 11 - 20 of 72 in total
Gene ID Gene Symbol Description Source
1080 CFTR CF transmembrane conductance regulator
1179 CLCA1 chloride channel accessory 1
1181 CLCN2 chloride voltage-gated channel 2
1232 CCR3 C-C motif chemokine receptor 3
1441 CSF3R colony stimulating factor 3 receptor
1543 CYP1A1 cytochrome P450 family 1 subfamily A member 1
1906 EDN1 endothelin 1
2212 FCGR2A Fc gamma receptor IIa
2729 GCLC glutamate-cysteine ligase catalytic subunit
2833 CXCR3 C-X-C motif chemokine receptor 3
Displaying entries 71 - 78 of 78 in total
Gene ID Gene Symbol Description Source
81897 Tlr9 toll-like receptor 9
110557 H2-Q6 histocompatibility 2, Q region locus 6
171285 Havcr2 hepatitis A virus cellular receptor 2
192193 Edem1 ER degradation enhancer, mannosidase alpha-like 1
193740 Hspa1a heat shock protein 1A
238393 Serpina3f serine (or cysteine) peptidase inhibitor, clade A, member 3F
238395 Serpina3j serine (or cysteine) peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3J
271047 Serpina3b serine (or cysteine) peptidase inhibitor, clade A, member 3B
Displaying entries 1 - 10 of 43 in total
Gene ID Gene Symbol Description Source
24255 Cftr CF transmembrane conductance regulator
24296 Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1
24484 Igfbp3 insulin-like growth factor binding protein 3
24493 Il1a interleukin 1 alpha
24598 Nos1 nitric oxide synthase 1
24600 Nos3 nitric oxide synthase 3
24767 Scnn1b sodium channel epithelial 1 subunit beta
24770 Ccl2 C-C motif chemokine ligand 2
24773 Sftpa1 surfactant protein A1
24794 Serpina3c serine (or cysteine) proteinase inhibitor, clade A, member 3C
Displaying all 9 entries
Gene ID Gene Symbol Description Source
34091 Spn28Dc Serpin 28Dc
34714 Edem2 ER degradation enhancer, mannosidase alpha-like 2
36428 Mdr49 Multi drug resistance 49
38326 Pxn Peroxidasin
38726 Mdr65 Multi drug resistance 65
41549 Octbeta2R Octopamine beta2 receptor
42652 Octbeta1R Octopamine beta1 receptor
43222 Tl Toll
47905 l(2)03659 lethal (2) 03659
Displaying all 3 entries
Gene ID Gene Symbol Description Source
403139 tlr5b toll-like receptor 5b
559080 cftr CF transmembrane conductance regulator
791973 cxcr3.2 chemokine (C-X-C motif) receptor 3, tandem duplicate 2
Displaying all 2 entries
Gene ID Gene Symbol Description Source Organism
397778 tgfb1.L transforming growth factor beta 1 L homeolog Xenopus laevis (African clawed frog)
108697308 adrb1.L adrenoceptor beta 1 L homeolog Xenopus laevis (African clawed frog)
Displaying entries 1 - 10 of 11 in total
Gene ID Gene Symbol Description Source
174821 clh-1 CBS domain-containing protein
177857 C47E12.3 alpha-1,2-Mannosidase
178215 pgp-1 Multidrug resistance protein pgp-1
179197 cri-2 Putative metalloproteinase inhibitor tag-225
179991 zmp-4 Hemopexin;Peptidase metallopeptidase domain-containing protein
180351 W01F3.2 Uncharacterized protein
181101 mec-10 Degenerin mec-10
181288 pxn-2 Peroxidasin homolog pxn-2
181326 pgp-3 Multidrug resistance protein pgp-3
181728 mec-4 Degenerin mec-4
Displaying all 4 entries
Gene ID Gene Symbol Description Source
853198 YOR1 ATP-binding cassette transporter YOR1
853671 STE6 ATP-binding cassette a-factor transporter STE6
853978 NFT1 putative multidrug transporter NFT1
856611 MNL1 alpha-1,2-mannosidase MNL1
The Human Phenotype Ontology
Displaying entries 1 - 10 of 32 in total
HPO ID HPO Term
HP:0002105 Hemoptysis
HP:0100582 Nasal polyposis
HP:0001392 Abnormality of the liver
HP:0002842 Recurrent Burkholderia cepacia infections
HP:0000739 Anxiety
HP:0002570 Steatorrhea
HP:0005376 Recurrent Haemophilus influenzae infections
HP:0002020 Gastroesophageal reflux
HP:0000365 Hearing impairment
HP:0002110 Bronchiectasis
Displaying 1 entry
Gene ID Gene Symbol Description
4680 CEACAM6 CEA cell adhesion molecule 6
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Last updated: December 9, 2024