Gene ID | Gene Symbol | Description | Source |
---|---|---|---|
10462 | CLEC10A | C-type lectin domain containing 10A | |
10724 | OGA | O-GlcNAcase | |
10908 | PNPLA6 | patatin like phospholipase domain containing 6 | |
23098 | SARM1 | sterile alpha and TIR motif containing 1 | |
54732 | TMED9 | transmembrane p24 trafficking protein 9 | |
57103 | TIGAR | TP53 induced glycolysis regulatory phosphatase |
UniProt ID | Protein Name | Source |
---|---|---|
O60502 | Protein O-GlcNAcase | |
P04040 | Catalase | |
P07686 | Beta-hexosaminidase subunit beta | |
P07741 | Adenine phosphoribosyltransferase | |
P21589 | 5'-nucleotidase | |
P22303 | Acetylcholinesterase | |
P52789 | Hexokinase-2 | |
P56159 | GDNF family receptor alpha-1 | |
Q13510 | Acid ceramidase | |
Q15485 | Ficolin-2 |
HPO ID | HPO Term |
---|---|
HP:0003429 | CNS hypomyelination |
HP:0003693 | Distal amyotrophy |
HP:0003701 | Proximal muscle weakness |
HP:0003722 | Neck flexor weakness |
HP:0004326 | Cachexia |
HP:0005750 | Lower-limb joint contracture |
HP:0006986 | Upper limb spasticity |
HP:0007354 | Amyotrophic lateral sclerosis |
HP:0011471 | Gastrostomy tube feeding in infancy |
HP:0012048 | Oromandibular dystonia |
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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