abnormal lung interstitium morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly of the connective tissue located between the respiratory (airway and alveolar) epithelium, the capillary endothelium and pleural mesothelium; it contains basement membrane composed of collagen, elastin, proteoglycans, and fibronectin; it functions in the mechanical behavior of the lung, and forms a barrier to regulate the flow of plasma constituents from the capillaries to the airway and alveolar spaces (Mammalian Phenotype Ontology, MP_0002276)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0002276
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22 gene mutations causing the abnormal lung interstitium morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
BLOC1S6 biogenesis of lysosomal organelles complex-1, subunit 6, pallidin
CAV1 caveolin 1, caveolae protein, 22kDa
CEBPA CCAAT/enhancer binding protein (C/EBP), alpha
CFTR cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)
CREBBP CREB binding protein
CXCR3 chemokine (C-X-C motif) receptor 3
CYLD cylindromatosis (turban tumor syndrome)
DKC1 dyskeratosis congenita 1, dyskerin
EGFR epidermal growth factor receptor
EGR1 early growth response 1
ERRFI1 ERBB receptor feedback inhibitor 1
FBLN1 fibulin 1
HAT1 histone acetyltransferase 1
LYZ lysozyme
PLAT plasminogen activator, tissue
PLAU plasminogen activator, urokinase
PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)
PTHLH parathyroid hormone-like hormone
SFTPC surfactant protein C
SHARPIN SHANK-associated RH domain interactor
STK40 serine/threonine kinase 40
WNT5A wingless-type MMTV integration site family, member 5A