Gene ID | Gene Symbol | Description | Source |
---|---|---|---|
43 | ACHE | acetylcholinesterase (Yt blood group) | |
353 | APRT | adenine phosphoribosyltransferase | |
1581 | CYP7A1 | cytochrome P450 family 7 subfamily A member 1 | |
2538 | G6PC1 | glucose-6-phosphatase catalytic subunit 1 | |
2542 | SLC37A4 | solute carrier family 37 member 4 | |
2632 | GBE1 | 1,4-alpha-glucan branching enzyme 1 | |
2992 | GYG1 | glycogenin 1 | |
2998 | GYS2 | glycogen synthase 2 | |
4190 | MDH1 | malate dehydrogenase 1 | |
5621 | PRNP | prion protein (Kanno blood group) |
UniProt ID | Protein Name | Source |
---|---|---|
P54840 | Glycogen [starch] synthase, liver | |
Q04446 | 1,4-alpha-glucan-branching enzyme |
HPO ID | HPO Term |
---|---|
HP:0002066 | Gait ataxia |
HP:0001284 | Areflexia |
HP:0007340 | Lower limb muscle weakness |
HP:0001260 | Dysarthria |
HP:0002360 | Sleep abnormality |
HP:0012534 | Dysesthesia |
HP:0001317 | Abnormal cerebellum morphology |
HP:0000726 | Dementia |
HP:0002071 | Abnormality of extrapyramidal motor function |
HP:0011730 | Abnormal central sensory function |
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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