abnormal alveolar lamellar body morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly 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_0010813)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0010813
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Genes

24 gene mutations causing the abnormal alveolar lamellar body morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ABCA12 ATP-binding cassette, sub-family A (ABC1), member 12
ABCA3 ATP-binding cassette, sub-family A (ABC1), member 3
ADGRF5 adhesion G protein-coupled receptor F5
CBY1 chibby homolog 1 (Drosophila)
CITED2 Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2
CTGF connective tissue growth factor
EGFR epidermal growth factor receptor
EPAS1 endothelial PAS domain protein 1
FSTL1 follistatin-like 1
HPS1 Hermansky-Pudlak syndrome 1
HSD11B1 hydroxysteroid (11-beta) dehydrogenase 1
HSPA5 heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)
LHX4 LIM homeobox 4
LYST lysosomal trafficking regulator
NDST1 N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1
NOS3 nitric oxide synthase 3 (endothelial cell)
NPC1 Niemann-Pick disease, type C1
NPC2 Niemann-Pick disease, type C2
PTHLH parathyroid hormone-like hormone
RAB38 RAB38, member RAS oncogene family
SFTPB surfactant protein B
SFTPC surfactant protein C
SFTPD surfactant protein D
TMEM38B transmembrane protein 38B