abnormal surfactant composition Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description anomaly in the chemical constituents of surfactant, a phospholipid present in the lungs that controls surface tension in the alveoli (Mammalian Phenotype Ontology, MP_0004781)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0004781
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Genes

7 gene mutations causing the abnormal surfactant composition phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ABCA3 ATP-binding cassette, sub-family A (ABC1), member 3
CRH corticotropin releasing hormone
NPC1 Niemann-Pick disease, type C1
NPC2 Niemann-Pick disease, type C2
SFTPB surfactant protein B
SFTPD surfactant protein D
TMEM38B transmembrane protein 38B