Gene ID | Gene Symbol | Description | Source |
---|---|---|---|
10558 | SPTLC1 | serine palmitoyltransferase long chain base subunit 1 | |
10715 | CERS1 | ceramide synthase 1 | |
10858 | CYP46A1 | cytochrome P450 family 46 subfamily A member 1 | |
11343 | MGLL | monoglyceride lipase | |
22933 | SIRT2 | sirtuin 2 | |
23205 | ACSBG1 | acyl-CoA synthetase bubblegum family member 1 | |
23475 | QPRT | quinolinate phosphoribosyltransferase | |
23583 | SMUG1 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | |
26033 | ATRNL1 | attractin like 1 | |
27036 | SIGLEC7 | sialic acid binding Ig like lectin 7 |
UniProt ID | Protein Name | Source |
---|---|---|
Q9Y6A2 | Cholesterol 24-hydroxylase |
HPO ID | HPO Term |
---|---|
HP:0000746 | Delusion |
HP:0000750 | Delayed speech and language development |
HP:0001250 | Seizure |
HP:0001260 | Dysarthria |
HP:0001272 | Cerebellar atrophy |
HP:0001288 | Gait disturbance |
HP:0001290 | Generalized hypotonia |
HP:0001310 | Dysmetria |
HP:0001350 | Slurred speech |
HP:0001824 | Weight loss |
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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