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 | |
1605 | DAG1 | dystroglycan 1 | |
2218 | FKTN | fukutin | |
2632 | GBE1 | 1,4-alpha-glucan branching enzyme 1 | |
3098 | HK1 | hexokinase 1 |
HPO ID | HPO Term |
---|---|
HP:0007256 | Abnormal pyramidal sign |
HP:0007260 | Type II lissencephaly |
HP:0007361 | Abnormal pons morphology |
HP:0008180 | Mildly elevated creatine kinase |
HP:0008443 | Neuropathic spinal arthropathy |
HP:0008947 | Infantile muscular hypotonia |
HP:0008981 | Calf muscle hypertrophy |
HP:0010628 | Facial palsy |
HP:0010864 | Intellectual disability, severe |
HP:0011968 | Feeding difficulties |
Gene ID | Gene Symbol | Description |
---|---|---|
10585 | POMT1 | protein O-mannosyltransferase 1 |
29925 | GMPPB | GDP-mannose pyrophosphorylase B |
29954 | POMT2 | protein O-mannosyltransferase 2 |
79147 | FKRP | fukutin related protein |
9215 | LARGE1 | LARGE xylosyl- and glucuronyltransferase 1 |
55624 | POMGNT1 | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) |
84197 | POMK | protein O-mannose kinase |
2218 | FKTN | fukutin |
729920 | CRPPA | CDP-L-ribitol pyrophosphorylase A |
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