abnormal pulmonary elastic fiber morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly of a slender connective tissue fiber in pulmonary tissue characterized by great elasticity (Mammalian Phenotype Ontology, MP_0003209)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0003209
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Genes

16 gene mutations causing the abnormal pulmonary elastic fiber morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
CAV1 caveolin 1, caveolae protein, 22kDa
CTSA cathepsin A
EFEMP2 EGF containing fibulin-like extracellular matrix protein 2
FGF10 fibroblast growth factor 10
FUT8 fucosyltransferase 8 (alpha (1,6) fucosyltransferase)
HOXA5 homeobox A5
ITGA8 integrin, alpha 8
LOX lysyl oxidase
LTBP4 latent transforming growth factor beta binding protein 4
MMP14 matrix metallopeptidase 14 (membrane-inserted)
PDGFA platelet-derived growth factor alpha polypeptide
SFTPC surfactant protein C
SFTPD surfactant protein D
SLC2A10 solute carrier family 2 (facilitated glucose transporter), member 10
TGFB3 transforming growth factor, beta 3
TLR4 toll-like receptor 4