abnormal respiratory mechanics Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description anomaly in the action of the lungs, diaphragm, ribs and chest wall during respiration (Mammalian Phenotype Ontology, MP_0002314)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0002314
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58 gene mutations causing the abnormal respiratory mechanics phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ACHE acetylcholinesterase (Yt blood group)
ADORA1 adenosine A1 receptor
APOE apolipoprotein E
AQP5 aquaporin 5
ATP7A ATPase, Cu++ transporting, alpha polypeptide
BLOC1S6 biogenesis of lysosomal organelles complex-1, subunit 6, pallidin
CAV1 caveolin 1, caveolae protein, 22kDa
CBY1 chibby homolog 1 (Drosophila)
CCR4 chemokine (C-C motif) receptor 4
CFTR cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)
CHRNB2 cholinergic receptor, nicotinic, beta 2 (neuronal)
CLCA1 chloride channel accessory 1
DHCR7 7-dehydrocholesterol reductase
DRD2 dopamine receptor D2
EDN2 endothelin 2
EDNRA endothelin receptor type A
EGLN1 egl-9 family hypoxia-inducible factor 1
EPO erythropoietin
FBN1 fibrillin 1
FGF18 fibroblast growth factor 18
FUT8 fucosyltransferase 8 (alpha (1,6) fucosyltransferase)
GIT2 G protein-coupled receptor kinase interacting ArfGAP 2
HMGN5 high mobility group nucleosome binding domain 5
KL klotho
LAMC2 laminin, gamma 2
LEPR leptin receptor
LPAR2 lysophosphatidic acid receptor 2
LTBP4 latent transforming growth factor beta binding protein 4
MUC5B mucin 5B, oligomeric mucus/gel-forming
MYH11 myosin, heavy chain 11, smooth muscle
NCF1 neutrophil cytosolic factor 1
NDN necdin, melanoma antigen (MAGE) family member
NDUFS4 NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase)
NIPAL3 NIPA-like domain containing 3
NOS1 nitric oxide synthase 1 (neuronal)
NPAS3 neuronal PAS domain protein 3
NPSR1 neuropeptide S receptor 1
P2RX2 purinergic receptor P2X, ligand gated ion channel, 2
PASK PAS domain containing serine/threonine kinase
PBX3 pre-B-cell leukemia homeobox 3
PHOX2A paired-like homeobox 2a
PHOX2B paired-like homeobox 2b
PKDCC protein kinase domain containing, cytoplasmic
PLA2G4A phospholipase A2, group IVA (cytosolic, calcium-dependent)
PRX periaxin
RAB38 RAB38, member RAS oncogene family
RORA RAR-related orphan receptor A
SEPN1 selenoprotein N, 1
SFTPA1 surfactant protein A1
SFTPB surfactant protein B
SFTPC surfactant protein C
SLC5A3 solute carrier family 5 (sodium/myo-inositol cotransporter), member 3
SMPD3 sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II)
TBXA2R thromboxane A2 receptor
TLR4 toll-like receptor 4
TNFRSF1A tumor necrosis factor receptor superfamily, member 1A
TNFRSF1B tumor necrosis factor receptor superfamily, member 1B
WWTR1 WW domain containing transcription regulator 1