Gene ID | Gene Symbol | Description | Source |
---|---|---|---|
9517 | SPTLC2 | serine palmitoyltransferase long chain base subunit 2 | |
9896 | FIG4 | FIG4 phosphoinositide 5-phosphatase | |
10558 | SPTLC1 | serine palmitoyltransferase long chain base subunit 1 | |
10855 | HPSE | heparanase | |
23175 | LPIN1 | lipin 1 | |
23600 | AMACR | alpha-methylacyl-CoA racemase | |
27036 | SIGLEC7 | sialic acid binding Ig like lectin 7 | |
51196 | PLCE1 | phospholipase C epsilon 1 | |
84649 | DGAT2 | diacylglycerol O-acyltransferase 2 |
UniProt ID | Protein Name | Source |
---|---|---|
Q9Y286 | Sialic acid-binding Ig-like lectin 7 |
HPO ID | HPO Term |
---|---|
HP:0001265 | Hyporeflexia |
HP:0005684 | Distal arthrogryposis |
HP:0002359 | Frequent falls |
HP:0007182 | Peripheral hypomyelination |
HP:0002936 | Distal sensory impairment |
HP:0001284 | Areflexia |
HP:0003676 | Progressive |
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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