asthma Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description 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. The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing. The symptoms appear due to a variety of triggers such as allergens, irritants, respiratory infections, weather changes, exercise, stress, reflux disease, medications, foods and emotional anxiety. (Human Disease Ontology, DOID_2841)
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