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
External Links
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 21 - 30 of 102 in total
Gene ID Gene Symbol Description Source
1576 CYP3A4 cytochrome P450 family 3 subfamily A member 4
1634 DCN decorin
1636 ACE angiotensin I converting enzyme
1946 EFNA5 ephrin A5
2215 FCGR3B Fc gamma receptor IIIb
2219 FCN1 ficolin 1
2523 FUT1 fucosyltransferase 1 (H blood group)
2524 FUT2 fucosyltransferase 2 (H blood group)
2525 FUT3 fucosyltransferase 3 (Lewis blood group)
2526 FUT4 fucosyltransferase 4
Displaying all 7 entries
Gene ID Gene Symbol Description Source
11554 Adrb1 adrenergic receptor, beta 1
14629 Gclc glutamate-cysteine ligase, catalytic subunit
16846 Lep leptin
19013 Ppara peroxisome proliferator activated receptor alpha
21898 Tlr4 toll-like receptor 4
21926 Tnf tumor necrosis factor
192193 Edem1 ER degradation enhancer, mannosidase alpha-like 1
Displaying all 6 entries
Gene ID Gene Symbol Description Source
24835 Tnf tumor necrosis factor
24925 Adrb1 adrenoceptor beta 1
25283 Gclc glutamate-cysteine ligase, catalytic subunit
25608 Lep leptin
25747 Ppara peroxisome proliferator activated receptor alpha
29260 Tlr4 toll-like receptor 4
Displaying all 2 entries
Gene ID Gene Symbol Description Source
34714 Edem2 ER degradation enhancer, mannosidase alpha-like 2
43222 Tl Toll
Displaying 1 entry
Gene ID Gene Symbol Description Source
856611 MNL1 alpha-1,2-mannosidase MNL1
Related Glycoprotein
Displaying entry 81 - 81 of 81 in total
UniProt ID Protein Name Source
Q9NR71 Neutral ceramidase
The Human Phenotype Ontology
Displaying entries 21 - 30 of 32 in total
HPO ID HPO Term
HP:0006536 Airway obstruction
HP:0002024 Malabsorption
HP:0000787 Nephrolithiasis
HP:0002724 Recurrent Aspergillus infections
HP:0012873 Absent vas deferens
HP:0002099 Asthma
HP:0000939 Osteoporosis
HP:0002783 Recurrent lower respiratory tract infections
HP:0000716 Depression
HP:0002205 Recurrent respiratory infections
Displaying 1 entry
Gene ID Gene Symbol Description
4680 CEACAM6 CEA cell adhesion molecule 6

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Last updated: August 19, 2024