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 1 - 10 of 102 in total
Gene ID Gene Symbol Description Source
28 ABO ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase
43 ACHE acetylcholinesterase (Yt blood group)
50 ACO2 aconitase 2
155 ADRB3 adrenoceptor beta 3
308 ANXA5 annexin A5
353 APRT adenine phosphoribosyltransferase
411 ARSB arylsulfatase B
412 STS steroid sulfatase
427 ASAH1 N-acylsphingosine amidohydrolase 1
811 CALR calreticulin
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 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: August 19, 2024