asthma Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description A chronic respiratory disease manifested as difficulty breathing due to the narrowing of bronchial passageways.|Tendency of the smooth muscle of the tracheobronchial tree to contract more intensely in response to a given stimulus than it does in the response seen in normal individuals. This condition is present in virtually all symptomatic patients with asthma. The most prominent manifestation of this smooth muscle contraction is a decrease in airway caliber that can be readily measured in the pulmonary function laboratory.|A form of bronchial disorder with three distinct components: airway hyper-responsiveness (RESPIRATORY HYPERSENSITIVITY), airway INFLAMMATION, and intermittent AIRWAY OBSTRUCTION. It is characterized by spasmodic contraction of airway smooth muscle, WHEEZING, and dyspnea (DYSPNEA, PAROXYSMAL).|A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors resulting in recurring periods of wheezing (a whistling sound while breathing), chest tightness, shortness of breath, mucus production and coughing. The symptoms appear due to a variety of triggers such as allergens, irritants, respiratory infections, weather changes, excercise, stress, reflux disease, medications, foods and emotional anxiety. (Experimental Factor Ontology, EFO_0000270)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0002099
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Genes

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

Symbol Name
ADA adenosine deaminase
ALMS1 Alstrom syndrome protein 1
ARL6 ADP-ribosylation factor-like 6
ARVCF armadillo repeat gene deleted in velocardiofacial syndrome
BBS1 Bardet-Biedl syndrome 1
BBS10 Bardet-Biedl syndrome 10
BBS12 Bardet-Biedl syndrome 12
BBS2 Bardet-Biedl syndrome 2
BBS4 Bardet-Biedl syndrome 4
BBS5 Bardet-Biedl syndrome 5
BBS7 Bardet-Biedl syndrome 7
BBS9 Bardet-Biedl syndrome 9
CASP8 caspase 8, apoptosis-related cysteine peptidase
CCL11 chemokine (C-C motif) ligand 11
CDSN corneodesmosin
CEP290 centrosomal protein 290kDa
CFTR cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)
COMT catechol-O-methyltransferase
COX4I2 cytochrome c oxidase subunit IV isoform 2 (lung)
DOCK8 dedicator of cytokinesis 8
ELOVL4 ELOVL fatty acid elongase 4
ERCC2 excision repair cross-complementation group 2
ERCC3 excision repair cross-complementation group 3
FLG filaggrin
GP1BB glycoprotein Ib (platelet), beta polypeptide
GTF2H5 general transcription factor IIH, polypeptide 5
HIRA histone cell cycle regulator
IDS iduronate 2-sulfatase
IFT27 intraflagellar transport 27
LIFR leukemia inhibitory factor receptor alpha
LIG4 ligase IV, DNA, ATP-dependent
LRBA LPS-responsive vesicle trafficking, beach and anchor containing
LZTFL1 leucine zipper transcription factor-like 1
MKKS McKusick-Kaufman syndrome
MKS1 Meckel syndrome, type 1
NFKB2 nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)
NKX2-1 NK2 homeobox 1
NSUN2 NOP2/Sun RNA methyltransferase family, member 2
PEPD peptidase D
PGM3 phosphoglucomutase 3
PLCG2 phospholipase C, gamma 2 (phosphatidylinositol-specific)
SCN4A sodium channel, voltage gated, type IV alpha subunit
SHH sonic hedgehog
SPINK5 serine peptidase inhibitor, Kazal type 5
TBX1 T-box 1
TBX21 T-box 21
TRIM32 tripartite motif containing 32
TSPYL1 TSPY-like 1
TTC8 tetratricopeptide repeat domain 8
UFD1L ubiquitin fusion degradation 1 like (yeast)
WDPCP WD repeat containing planar cell polarity effector