UniProt | Protein Name |
---|---|
Q7Z7B1 |
|
GO Term | Evidence Code | PMID |
---|---|---|
protein localization to plasma membrane | ||
GPI anchor biosynthetic process | ||
GPI anchor metabolic process | ||
preassembly of GPI anchor in ER membrane |
|
GO Term | Evidence Code | PMID |
---|---|---|
endoplasmic reticulum membrane |
|
GO Term | Evidence Code | PMID |
---|---|---|
glucosaminyl-phosphatidylinositol O-acyltransferase activity | ||
O-acyltransferase activity |
|
DO ID | Disease Name | Source |
---|---|---|
DOID:0050562 | West syndrome | |
DOID:0050635 | alternating hemiplegia of childhood | |
DOID:0050841 | focal hand dystonia | |
DOID:0060216 | Cogan syndrome | |
DOID:0060249 | scoliosis | |
DOID:0060823 | syndromic X-linked intellectual disability 94 | |
DOID:0070432 | hyperphosphatasia with impaired intellectual development syndrome 5 | |
DOID:10293 | monocular esotropia | |
DOID:10487 | Hirschsprung's disease | |
DOID:1059 | intellectual disability |
HPO ID | HPO Term |
---|---|
HP:0000007 | Autosomal recessive inheritance |
HP:0000023 | Inguinal hernia |
HP:0000126 | Hydronephrosis |
HP:0000158 | Macroglossia |
HP:0000193 | Bifid uvula |
HP:0000218 | High palate |
HP:0000248 | Brachycephaly |
HP:0000280 | Coarse facial features |
HP:0000286 | Epicanthus |
HP:0000289 | Broad philtrum |
Disease ID | Disease Name |
---|---|
OMIM:616025 |
|
ORPHA:247262 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
190940 | WB:WBGene00022447 | ||
33425 | FB:FBgn0031422 | ||
38220 | FB:FBgn0035265 | ||
103180633 | CALMI20883 | ||
102360961 | LATCH19794 | ||
100136853 | ZFIN:ZDB-GENE-080204-94 | DANRE36465 | |
103043659 | ASTMX09639 | ||
108259696 | ICTPU23177 | ||
113577563 | ELEEL19637 | ||
106603973 | SALSA28363 |
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GlyCosmos Portal v4.0.0
Last updated: August 19, 2024