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
The Human Phenotype Ontology
Displaying entries 11 - 20 of 32 in total
HPO ID HPO Term
HP:0003251 Male infertility
HP:0001508 Failure to thrive
HP:0012236 Elevated sweat chloride
HP:0002035 Rectal prolapse
HP:0000938 Osteopenia
HP:0002726 Recurrent Staphylococcus aureus infections
HP:0000246 Sinusitis
HP:0002107 Pneumothorax
HP:0002910 Elevated circulating hepatic transaminase concentration
HP:0001394 Cirrhosis
Displaying 1 entry
Gene ID Gene Symbol Description
4680 CEACAM6 CEA cell adhesion molecule 6

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024