Gene ID | Gene Symbol | Description | Source |
---|---|---|---|
1048 | CEACAM5 | CEA cell adhesion molecule 5 | |
1118 | CHIT1 | chitinase 1 | |
5290 | PIK3CA | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | |
5291 | PIK3CB | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | |
5293 | PIK3CD | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | |
5294 | PIK3CG | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | |
5973 | RENBP | renin binding protein | |
10020 | GNE | glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | |
26503 | SLC17A5 | solute carrier family 17 member 5 | |
27306 | HPGDS | hematopoietic prostaglandin D synthase |
HPO ID | HPO Term |
---|---|
HP:0001433 | Hepatosplenomegaly |
HP:0008151 | Prolonged prothrombin time |
HP:0000629 | Periorbital fullness |
HP:0002487 | Hyperkinetic movements |
HP:0000316 | Hypertelorism |
HP:0002910 | Elevated circulating hepatic transaminase concentration |
HP:0001256 | Intellectual disability, mild |
HP:0012103 | Abnormality of the mitochondrion |
HP:0001999 | Abnormal facial shape |
HP:0000280 | Coarse facial features |
GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.
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