Gene ID | Gene Symbol | Description | Source |
---|---|---|---|
1118 | CHIT1 | chitinase 1 | |
1636 | ACE | angiotensin I converting enzyme | |
2629 | GBA1 | glucosylceramidase beta 1 | |
5048 | PAFAH1B1 | platelet activating factor acetylhydrolase 1b regulatory subunit 1 | |
5660 | PSAP | prosaposin | |
7357 | UGCG | UDP-glucose ceramide glucosyltransferase | |
57733 | GBA3 | glucosylceramidase beta 3 (gene/pseudogene) |
UniProt ID | Protein Name | Source |
---|---|---|
P04062 | Lysosomal acid glucosylceramidase | |
P07602 | Prosaposin | |
P12821 | Angiotensin-converting enzyme | |
P43034 | Platelet-activating factor acetylhydrolase IB subunit beta | |
Q13231 | Chitotriosidase-1 | |
Q9H227 | Cytosolic beta-glucosidase |
HPO ID | HPO Term |
---|---|
HP:0002756 | Pathologic fracture |
HP:0002758 | Osteoarthritis |
HP:0002797 | Osteolysis |
HP:0002953 | Vertebral compression fracture |
HP:0003233 | Decreased HDL cholesterol concentration |
HP:0003281 | Increased circulating ferritin concentration |
HP:0003656 | Decreased beta-glucocerebrosidase level |
HP:0004322 | Short stature |
HP:0004975 | Erlenmeyer flask deformity of the femurs |
HP:0005230 | Biliary tract obstruction |
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Supported by JST NBDC Grant Number JPMJND2204
Partly supported by NIH Common Fund Grant #1U01GM125267-01
GlyCosmos Portal v4.0.0
Last updated: August 19, 2024