bronchiectasis Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description A bronchial disease that is a chronic inflammatory condition of one or more bronchi or bronchioles marked by dilatation and loss of elasticity of the walls resulting from damage to the airway wall leading to the formation of small sacs on the bronchial wall and impairment of cilia mobility in the lung. Inflammation of the bronchial wall increases mucus secretion which serves as a breeding ground for bacteria. Bronchiectasis is caused by repeated respiratory infections, immune deficiency disorders, hereditary disorders (cystic fibrosis or primary ciliary dyskinesia), mechanical factors (inhaled object or a lung tumor) or inhaling toxic substances. (Human Disease Ontology, DOID_9563)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0002110
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Genes

43 genes associated with the bronchiectasis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ARMC4 armadillo repeat containing 4
ATM ATM serine/threonine kinase
BLM Bloom syndrome, RecQ helicase-like
C21ORF59 chromosome 21 open reading frame 59
CCDC103 coiled-coil domain containing 103
CCDC114 coiled-coil domain containing 114
CCDC39 coiled-coil domain containing 39
CCDC40 coiled-coil domain containing 40
CCDC65 coiled-coil domain containing 65
CCNO cyclin O
CD8A CD8a molecule
CFTR cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)
DNAAF1 dynein, axonemal, assembly factor 1
DNAAF3 dynein, axonemal, assembly factor 3
DNAH11 dynein, axonemal, heavy chain 11
DNAI1 dynein, axonemal, intermediate chain 1
DNAI2 dynein, axonemal, intermediate chain 2
DNAL1 dynein, axonemal, light chain 1
DNMT3B DNA (cytosine-5-)-methyltransferase 3 beta
DRC1 dynein regulatory complex subunit 1
DYX1C1 dyslexia susceptibility 1 candidate 1
HYDIN HYDIN, axonemal central pair apparatus protein
ICOS inducible T-cell co-stimulator
IGHM immunoglobulin heavy constant mu
IL21R interleukin 21 receptor
LRBA LPS-responsive vesicle trafficking, beach and anchor containing
LRRC6 leucine rich repeat containing 6
NBN nibrin
PGM3 phosphoglucomutase 3
PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta
RIN2 Ras and Rab interactor 2
RSPH1 radial spoke head 1 homolog (Chlamydomonas)
RSPH4A radial spoke head 4 homolog A (Chlamydomonas)
RSPH9 radial spoke head 9 homolog (Chlamydomonas)
SCNN1A sodium channel, non voltage gated 1 alpha subunit
SCNN1B sodium channel, non voltage gated 1 beta subunit
SCNN1G sodium channel, non voltage gated 1 gamma subunit
SPAG1 sperm associated antigen 1
TAP1 transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)
TAP2 transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)
TAPBP TAP binding protein (tapasin)
TNFRSF13B tumor necrosis factor receptor superfamily, member 13B
ZMYND10 zinc finger, MYND-type containing 10