Gene ID | Gene Symbol | Description | Source |
---|---|---|---|
2876 | GPX1 | glutathione peroxidase 1 | |
2923 | PDIA3 | protein disulfide isomerase family A member 3 | |
3037 | HAS2 | hyaluronan synthase 2 | |
3073 | HEXA | hexosaminidase subunit alpha | |
3098 | HK1 | hexokinase 1 | |
3099 | HK2 | hexokinase 2 | |
3383 | ICAM1 | intercellular adhesion molecule 1 | |
3425 | IDUA | alpha-L-iduronidase | |
3482 | IGF2R | insulin like growth factor 2 receptor | |
3897 | L1CAM | L1 cell adhesion molecule |
UniProt ID | Protein Name | Source |
---|---|---|
P29401 | Transketolase | |
P30101 | Protein disulfide-isomerase A3 | |
P32004 | Neural cell adhesion molecule L1 | |
P34059 | N-acetylgalactosamine-6-sulfatase | |
P34897 | Serine hydroxymethyltransferase, mitochondrial | |
P34913 | Bifunctional epoxide hydrolase 2 | |
P35354 | Prostaglandin G/H synthase 2 | |
P35475 | Alpha-L-iduronidase | |
P35610 | Sterol O-acyltransferase 1 | |
P36222 | Chitinase-3-like protein 1 |
HPO ID | HPO Term |
---|---|
HP:0002322 | Resting tremor |
HP:0002362 | Shuffling gait |
HP:0002425 | Anarthria |
HP:0002540 | Inability to walk |
HP:0002578 | Gastroparesis |
HP:0002650 | Scoliosis |
HP:0003394 | Muscle spasm |
HP:0004305 | Involuntary movements |
HP:0004409 | Hyposmia |
HP:0007164 | Slowed slurred speech |
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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