abnormal pulmonary interalveolar septum morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly of the tissue intervening between two adjacent pulmonary alveoli, which consists of the basement membranes of alveolar-lining epithelium (mostly type I pneumocytes) and capillary endothelium; thicker alveolar septal regions may also contain elastic fibers, collagen, interstitial cells, smooth muscle cells, mast cells, lymphocytes and monocytes (Mammalian Phenotype Ontology, MP_0010900)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0010900
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Genes

44 gene mutations causing the abnormal pulmonary interalveolar septum morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ABCA12 ATP-binding cassette, sub-family A (ABC1), member 12
ABCA3 ATP-binding cassette, sub-family A (ABC1), member 3
ADRA2B adrenoceptor alpha 2B
ATP7A ATPase, Cu++ transporting, alpha polypeptide
B4GALT1 UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1
CAV1 caveolin 1, caveolae protein, 22kDa
CAV2 caveolin 2
CRH corticotropin releasing hormone
CTSK cathepsin K
CUX1 cut-like homeobox 1
DUSP1 dual specificity phosphatase 1
EGFR epidermal growth factor receptor
EPAS1 endothelial PAS domain protein 1
ERRFI1 ERBB receptor feedback inhibitor 1
FBN1 fibrillin 1
GAK cyclin G associated kinase
HAT1 histone acetyltransferase 1
HCK HCK proto-oncogene, Src family tyrosine kinase
HOXA5 homeobox A5
KDM6B lysine (K)-specific demethylase 6B
KL klotho
KRAS Kirsten rat sarcoma viral oncogene homolog
MAN1A2 mannosidase, alpha, class 1A, member 2
MAPK8IP3 mitogen-activated protein kinase 8 interacting protein 3
MMP14 matrix metallopeptidase 14 (membrane-inserted)
NDST1 N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1
NOS3 nitric oxide synthase 3 (endothelial cell)
NPC1 Niemann-Pick disease, type C1
NPC2 Niemann-Pick disease, type C2
NR3C1 nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)
PDGFA platelet-derived growth factor alpha polypeptide
PDPN podoplanin
PKDCC protein kinase domain containing, cytoplasmic
ROBO1 roundabout, axon guidance receptor, homolog 1 (Drosophila)
SFTPC surfactant protein C
SFTPD surfactant protein D
SGPL1 sphingosine-1-phosphate lyase 1
SLC27A4 solute carrier family 27 (fatty acid transporter), member 4
TGFB3 transforming growth factor, beta 3
TIE1 tyrosine kinase with immunoglobulin-like and EGF-like domains 1
TMEM38B transmembrane protein 38B
TOMM5 translocase of outer mitochondrial membrane 5 homolog (yeast)
TRPS1 trichorhinophalangeal syndrome I
VEGFA vascular endothelial growth factor A