decreased alveolar lamellar body number Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description reduced number of the specialized secretory organelles found in the cytoplasm of type II pneumocytes and involved in the synthesis, secretion, and reutilization of pulmonary surfactant (Mammalian Phenotype Ontology, MP_0010890)
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8 gene mutations causing the decreased alveolar lamellar body number phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ABCA3 ATP-binding cassette, sub-family A (ABC1), member 3
EGFR epidermal growth factor receptor
FSTL1 follistatin-like 1
HSD11B1 hydroxysteroid (11-beta) dehydrogenase 1
LHX4 LIM homeobox 4
NDST1 N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1
PTHLH parathyroid hormone-like hormone
TMEM38B transmembrane protein 38B