UniProt | Protein Name |
---|---|
Q9H3S5 |
|
GO Term | Evidence Code | PMID |
---|---|---|
GPI anchor biosynthetic process |
GO Term | Evidence Code | PMID |
---|---|---|
glycosylphosphatidylinositol-mannosyltransferase I complex | ||
endoplasmic reticulum membrane |
GO Term | Evidence Code | PMID |
---|---|---|
glycolipid mannosyltransferase activity | ||
mannosyltransferase activity | ||
alpha-1,4-mannosyltransferase activity |
DO ID | Disease Name | Source |
---|---|---|
DOID:0060284 | paroxysmal nocturnal hemoglobinuria | |
DOID:10762 | portal hypertension | |
DOID:11512 | Budd-Chiari syndrome | |
DOID:11695 | portal vein thrombosis | |
DOID:11832 | visual epilepsy | |
DOID:1826 | epilepsy | |
DOID:2234 | focal epilepsy | |
DOID:2452 | thrombophilia | |
DOID:3327 | partial motor epilepsy |
HPO ID | HPO Term |
---|---|
HP:0000007 | Autosomal recessive inheritance |
HP:0000750 | Delayed speech and language development |
HP:0001409 | Portal hypertension |
HP:0001744 | Splenomegaly |
HP:0002121 | Generalized non-motor (absence) seizure |
HP:0002240 | Hepatomegaly |
HP:0003593 | Infantile onset |
HP:0004936 | Venous thrombosis |
HP:0005561 | Abnormal bone marrow cell morphology |
HP:0010819 | Atonic seizure |
Disease ID | Disease Name |
---|---|
OMIM:610293 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
174736 | WB:WBGene00007189 | ||
37470 | FB:FBgn0034649 | ||
103176236 | CALMI09958 | ||
102349293 | LATCH10922 | ||
393361 | ZFIN:ZDB-GENE-040426-1393 | DANRE26657 | |
103027410 | ASTMX16215 | ||
108256601 | ICTPU18343 | ||
113571943 | ELEEL09934 | ||
115195651 | SALTR95334 | ||
101166013 | ORYLA08934 |
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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