abnormal surfactant physiology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description anomaly in the production, composition or function of surfactant, a phospholipid present in the lungs that controls surface tension in the alveoli (Mammalian Phenotype Ontology, MP_0004782)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0004782
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Genes

37 gene mutations causing the abnormal surfactant physiology 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
ABCG1 ATP-binding cassette, sub-family G (WHITE), member 1
ADGRF5 adhesion G protein-coupled receptor F5
CEBPA CCAAT/enhancer binding protein (C/EBP), alpha
CITED2 Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2
CRH corticotropin releasing hormone
CTSH cathepsin H
CYP1A2 cytochrome P450, family 1, subfamily A, polypeptide 2
EPAS1 endothelial PAS domain protein 1
ESR2 estrogen receptor 2 (ER beta)
FOXF1 forkhead box F1
FSTL1 follistatin-like 1
GAK cyclin G associated kinase
HOPX HOP homeobox
HOXA5 homeobox A5
HSD11B1 hydroxysteroid (11-beta) dehydrogenase 1
HSPA5 heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)
LPCAT1 lysophosphatidylcholine acyltransferase 1
LYZ lysozyme
NDST1 N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1
NKX2-1 NK2 homeobox 1
NOS2 nitric oxide synthase 2, inducible
NOS3 nitric oxide synthase 3 (endothelial cell)
NPC1 Niemann-Pick disease, type C1
NPC2 Niemann-Pick disease, type C2
NR3C1 nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)
PROP1 PROP paired-like homeobox 1
PTGES3 prostaglandin E synthase 3 (cytosolic)
PTHLH parathyroid hormone-like hormone
RAB38 RAB38, member RAS oncogene family
SERPINB1 serpin peptidase inhibitor, clade B (ovalbumin), member 1
SFTPA1 surfactant protein A1
SFTPB surfactant protein B
SFTPC surfactant protein C
SFTPD surfactant protein D
TMEM38B transmembrane protein 38B