abnormal endoplasmic reticulum morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly of irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells (Mammalian Phenotype Ontology, MP_0009378)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0009378
Similar Terms
Downloads & Tools


10 gene mutations causing the abnormal endoplasmic reticulum morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ATP2C1 ATPase, Ca++ transporting, type 2C, member 1
COL1A1 collagen, type I, alpha 1
COL4A3BP collagen, type IV, alpha 3 (Goodpasture antigen) binding protein
COL8A2 collagen, type VIII, alpha 2
LMAN1 lectin, mannose-binding, 1
MUC2 mucin 2, oligomeric mucus/gel-forming
TLR2 toll-like receptor 2
TRIP11 thyroid hormone receptor interactor 11
UMOD uromodulin
USE1 unconventional SNARE in the ER 1 homolog (S. cerevisiae)