Gene ID | Gene Symbol | Description | Source |
---|---|---|---|
31 | ACACA | acetyl-CoA carboxylase alpha | |
43 | ACHE | acetylcholinesterase (Yt blood group) | |
217 | ALDH2 | aldehyde dehydrogenase 2 family member | |
952 | CD38 | CD38 molecule | |
1120 | CHKB | choline kinase beta | |
1272 | CNTN1 | contactin 1 | |
2218 | FKTN | fukutin | |
2632 | GBE1 | 1,4-alpha-glucan branching enzyme 1 | |
3098 | HK1 | hexokinase 1 | |
4534 | MTM1 | myotubularin 1 |
Gene ID | Gene Symbol | Description | Source | Organism |
---|---|---|---|---|
100498555 | large1 | LARGE xylosyl- and glucuronyltransferase 1 | Xenopus tropicalis (tropical clawed frog) | |
108704366 | large1.L | LARGE xylosyl- and glucuronyltransferase 1 L homeolog | Xenopus laevis (African clawed frog) | |
108712551 | large1.S | LARGE xylosyl- and glucuronyltransferase 1 S homeolog | Xenopus laevis (African clawed frog) |
HPO ID | HPO Term |
---|---|
HP:0000028 | Cryptorchidism |
HP:0000054 | Micropenis |
HP:0000252 | Microcephaly |
HP:0000478 | Abnormality of the eye |
HP:0000486 | Strabismus |
HP:0000545 | Myopia |
HP:0000580 | Pigmentary retinopathy |
HP:0000707 | Abnormality of the nervous system |
HP:0001249 | Intellectual disability |
HP:0001263 | Global developmental delay |
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