abnormal lung volume Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description anomaly in the amount of air that the lungs contain at various points of the respiratory cycle (Mammalian Phenotype Ontology, MP_0001942)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0001942
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Genes

31 gene mutations causing the abnormal lung volume phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ACHE acetylcholinesterase (Yt blood group)
APOE apolipoprotein E
ATP7A ATPase, Cu++ transporting, alpha polypeptide
BLOC1S6 biogenesis of lysosomal organelles complex-1, subunit 6, pallidin
CFTR cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)
CHRNB2 cholinergic receptor, nicotinic, beta 2 (neuronal)
CISD2 CDGSH iron sulfur domain 2
COL2A1 collagen, type II, alpha 1
DERL2 derlin 2
DRD2 dopamine receptor D2
EDN2 endothelin 2
EGLN1 egl-9 family hypoxia-inducible factor 1
EYA3 EYA transcriptional coactivator and phosphatase 3
FBN1 fibrillin 1
FUT8 fucosyltransferase 8 (alpha (1,6) fucosyltransferase)
HIF1AN hypoxia inducible factor 1, alpha subunit inhibitor
HMGN5 high mobility group nucleosome binding domain 5
HMOX2 heme oxygenase 2
HOPX HOP homeobox
KL klotho
LEPR leptin receptor
NIPAL3 NIPA-like domain containing 3
NOS1 nitric oxide synthase 1 (neuronal)
PHOX2A paired-like homeobox 2a
PHOX2B paired-like homeobox 2b
PITX3 paired-like homeodomain 3
RAB38 RAB38, member RAS oncogene family
RUNX2 runt-related transcription factor 2
SEPN1 selenoprotein N, 1
SFTPB surfactant protein B
SFTPD surfactant protein D