rimmed vacuoles Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Presence of abnormal vacuoles (membrane-bound organelles) in the sarcolemma. On histological staining with hematoxylin and eosin, rimmed vacuoles are popcorn-like clear vacuoles with a densely blue rim. The vacuoles are often associated with cytoplasmic and occasionally intranuclear eosinophilic inclusions. (Human Phenotype Ontology, HP_0003805)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0003805
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11 genes associated with the rimmed vacuoles phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
DNAJB6 DnaJ (Hsp40) homolog, subfamily B, member 6
DPM3 dolichyl-phosphate mannosyltransferase polypeptide 3
FHL1 four and a half LIM domains 1
GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
MATR3 matrin 3
MYOT myotilin
TCAP titin-cap
TIA1 TIA1 cytotoxic granule-associated RNA binding protein
TNPO3 transportin 3
TTN titin
VCP valosin containing protein