Gene ID | Gene Symbol | Description | Source |
---|---|---|---|
4051 | CYP4F3 | cytochrome P450 family 4 subfamily F member 3 | |
4099 | MAG | myelin associated glycoprotein | |
4534 | MTM1 | myotubularin 1 | |
5230 | PGK1 | phosphoglycerate kinase 1 | |
5236 | PGM1 | phosphoglucomutase 1 | |
5332 | PLCB4 | phospholipase C beta 4 | |
5621 | PRNP | prion protein (Kanno blood group) | |
5631 | PRPS1 | phosphoribosyl pyrophosphate synthetase 1 | |
5743 | PTGS2 | prostaglandin-endoperoxide synthase 2 | |
8898 | MTMR2 | myotubularin related protein 2 |
HPO ID | HPO Term |
---|---|
HP:0003701 | Proximal muscle weakness |
HP:0002495 | Impaired vibratory sensation |
HP:0009129 | Upper limb amyotrophy |
HP:0001761 | Pes cavus |
HP:0007328 | Impaired pain sensation |
HP:0003409 | Distal sensory impairment of all modalities |
HP:0001284 | Areflexia |
HP:0003477 | Peripheral axonal neuropathy |
HP:0008959 | Distal upper limb muscle weakness |
HP:0002141 | Gait imbalance |
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