Gene ID | Gene Symbol | Description | Source |
---|---|---|---|
9382 | COG1 | component of oligomeric golgi complex 1 | |
11253 | MAN1B1 | mannosidase alpha class 1B member 1 | |
25839 | COG4 | component of oligomeric golgi complex 4 | |
64116 | SLC39A8 | solute carrier family 39 member 8 | |
84342 | COG8 | component of oligomeric golgi complex 8 | |
85365 | ALG2 | ALG2 alpha-1,3/1,6-mannosyltransferase |
UniProt ID | Protein Name | Source |
---|---|---|
Q8WTW3 | Conserved oligomeric Golgi complex subunit 1 | |
Q96MW5 | Conserved oligomeric Golgi complex subunit 8 | |
Q9C0K1 | Metal cation symporter ZIP8 | |
Q9UKM7 | Endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase |
HPO ID | HPO Term |
---|---|
HP:0002521 | Hypsarrhythmia |
HP:0000707 | Abnormality of the nervous system |
HP:0012751 | Abnormal basal ganglia MRI signal intensity |
HP:0000494 | Downslanted palpebral fissures |
HP:0011344 | Severe global developmental delay |
HP:0001928 | Abnormality of coagulation |
HP:0000286 | Epicanthus |
HP:0006808 | Cerebral hypomyelination |
HP:0001250 | Seizure |
HP:0012469 | Infantile spasms |
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Supported by JST NBDC Grant Number JPMJND2204
Partly supported by NIH Common Fund Grant #1U01GM125267-01
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Last updated: August 19, 2024