enlarged alveolar lamellar bodies Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description increased 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_0010815)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0010815
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Genes

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

Symbol Name
HPS1 Hermansky-Pudlak syndrome 1
LYST lysosomal trafficking regulator
NPC1 Niemann-Pick disease, type C1
RAB38 RAB38, member RAS oncogene family
SFTPD surfactant protein D