decreased type ii pneumocyte number Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description reduced number of the granular and roughly cuboidal cells typically found at the alveolar-septal junction that modulate the fluid surrounding the alveolar epithelium by secreting and recycling surfactants, and also contribute to tissue repair and can differentiate after injury into a type I pneumocyte; type II cells cover a much smaller surface area than type I cells (less than 5 percent), but are much more numerous and contain lamellar bodies on the apical surface where surfactant is stored (Mammalian Phenotype Ontology, MP_0010811)
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6 gene mutations causing the decreased type ii pneumocyte number phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
EPAS1 endothelial PAS domain protein 1
LYZ lysozyme
NKX2-1 NK2 homeobox 1
PTGES3 prostaglandin E synthase 3 (cytosolic)
TCF21 transcription factor 21
TGFB3 transforming growth factor, beta 3