pulmonary alveolar proteinosis Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description A lung disease that is characterized by abnormal accumulation of surfactant occurs within the alveoli, interfering with gas exchange. (Human Disease Ontology, DOID_12120)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0010998
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Genes

5 gene mutations causing the pulmonary alveolar proteinosis phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ADGRF5 adhesion G protein-coupled receptor F5
CSF2 colony stimulating factor 2 (granulocyte-macrophage)
CSF2RB colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)
NPC1 Niemann-Pick disease, type C1
NPC2 Niemann-Pick disease, type C2