Gene ID | Gene Symbol | Description | Source |
---|---|---|---|
189 | AGXT | alanine--glyoxylate aminotransferase | |
2619 | GAS1 | growth arrest specific 1 | |
4051 | CYP4F3 | cytochrome P450 family 4 subfamily F member 3 | |
9517 | SPTLC2 | serine palmitoyltransferase long chain base subunit 2 | |
10558 | SPTLC1 | serine palmitoyltransferase long chain base subunit 1 |
UniProt ID | Protein Name | Source |
---|---|---|
P54826 | Growth arrest-specific protein 1 |
HPO ID | HPO Term |
---|---|
HP:0001265 | Hyporeflexia |
HP:0006121 | Acral ulceration |
HP:0000407 | Sensorineural hearing impairment |
HP:0003431 | Decreased motor nerve conduction velocity |
HP:0002359 | Frequent falls |
HP:0001308 | Tongue fasciculations |
HP:0000006 | Autosomal dominant inheritance |
HP:0003409 | Distal sensory impairment of all modalities |
HP:0001886 | Foot osteomyelitis |
HP:0006858 | Impaired distal proprioception |
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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