Gene ID | Gene Symbol | Description | Source |
---|---|---|---|
178 | AGL | amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase | |
523 | ATP6V1A | ATPase H+ transporting V1 subunit A | |
952 | CD38 | CD38 molecule | |
1650 | DDOST | dolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit | |
2218 | FKTN | fukutin | |
2517 | FUCA1 | alpha-L-fucosidase 1 | |
2719 | GPC3 | glypican 3 | |
4023 | LPL | lipoprotein lipase | |
5105 | PCK1 | phosphoenolpyruvate carboxykinase 1 | |
5130 | PCYT1A | phosphate cytidylyltransferase 1A, choline |
HPO ID | HPO Term |
---|---|
HP:0001263 | Global developmental delay |
HP:0008887 | Adipose tissue loss |
HP:0000842 | Hyperinsulinemia |
HP:0002155 | Hypertriglyceridemia |
HP:0000294 | Low anterior hairline |
HP:0003247 | Overgrowth of external genitalia |
HP:0000998 | Hypertrichosis |
HP:0012062 | Bone cyst |
HP:0001635 | Congestive heart failure |
HP:0000147 | Polycystic ovaries |
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
This work is licensed under Creative Commons Attribution 4.0 International
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Last updated: August 19, 2024