abnormal lung saccule morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly of the transient dilations of the developing alveolar (or transient) ducts, which transform into a transitory alveolar duct as soon as it develops further branches; the last transitory saccule formed on each pathway is a terminal saccule that develops into an alveolar sac after birth (Mammalian Phenotype Ontology, MP_0010825)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0010825
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26 gene mutations causing the abnormal lung saccule morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ABCA3 ATP-binding cassette, sub-family A (ABC1), member 3
ADAM17 ADAM metallopeptidase domain 17
BMPER BMP binding endothelial regulator
CELSR1 cadherin, EGF LAG seven-pass G-type receptor 1
CTGF connective tissue growth factor
DHCR7 7-dehydrocholesterol reductase
FGF18 fibroblast growth factor 18
FOXF1 forkhead box F1
GATA4 GATA binding protein 4
GLI2 GLI family zinc finger 2
HOXA5 homeobox A5
ITGA8 integrin, alpha 8
LAMC1 laminin, gamma 1 (formerly LAMB2)
MAPK6 mitogen-activated protein kinase 6
MAPK8IP3 mitogen-activated protein kinase 8 interacting protein 3
NFIB nuclear factor I/B
NKX2-1 NK2 homeobox 1
PTHLH parathyroid hormone-like hormone
RASSF9 Ras association (RalGDS/AF-6) domain family (N-terminal) member 9
SHH sonic hedgehog
STK40 serine/threonine kinase 40
TGFB3 transforming growth factor, beta 3
TMEM38B transmembrane protein 38B
TRIP11 thyroid hormone receptor interactor 11
VANGL2 VANGL planar cell polarity protein 2
ZNF148 zinc finger protein 148