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 |
UniProt ID | Protein Name | Source |
---|---|---|
Q12860 | Contactin-1 | |
Q13085 | Acetyl-CoA carboxylase 1 | |
Q14118 | Dystroglycan 1 | |
Q8NCE2 | Myotubularin-related protein 14 | |
Q9H9S5 | Ribitol 5-phosphate transferase FKRP | |
Q9Y259 | Choline/ethanolamine kinase | |
Q9Y6A1 | Protein O-mannosyl-transferase 1 |
HPO ID | HPO Term |
---|---|
HP:0000028 | Cryptorchidism |
HP:0000054 | Micropenis |
HP:0000158 | Macroglossia |
HP:0000238 | Hydrocephalus |
HP:0000252 | Microcephaly |
HP:0000478 | Abnormality of the eye |
HP:0000485 | Megalocornea |
HP:0000486 | Strabismus |
HP:0000518 | Cataract |
HP:0000525 | Abnormality iris morphology |
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 |
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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