small alveolar lamellar bodies Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description decreased size 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_0010889)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0010889
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Genes

4 gene mutations causing the small alveolar lamellar bodies phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
CTGF connective tissue growth factor
HSD11B1 hydroxysteroid (11-beta) dehydrogenase 1
NPC2 Niemann-Pick disease, type C2
TMEM38B transmembrane protein 38B