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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
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 41 - 50 of 102 in total
Gene ID Gene Symbol Description Source
4153 MBL2 mannose binding lectin 2
4351 MPI mannose phosphate isomerase
4680 CEACAM6 CEA cell adhesion molecule 6
5105 PCK1 phosphoenolpyruvate carboxykinase 1
5226 PGD phosphogluconate dehydrogenase
5238 PGM3 phosphoglucomutase 3
5290 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha
5291 PIK3CB phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta
5293 PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta
5294 PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma
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 31 - 32 of 32 in total
HPO ID HPO Term
HP:0004401 Meconium ileus
HP:0001738 Exocrine pancreatic insufficiency
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