UniProt | Protein Name |
---|---|
P57054 |
|
GO Term | Evidence Code | PMID |
---|---|---|
endoplasmic reticulum | ||
endoplasmic reticulum membrane | ||
glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex |
GO Term | Evidence Code | PMID |
---|---|---|
phosphatidylinositol N-acetylglucosaminyltransferase activity | ||
protein binding |
DO ID | Disease Name | Source |
---|---|---|
DOID:0110096 | short-rib thoracic dysplasia 14 with polydactyly | |
DOID:0110213 | isolated cleft palate | |
DOID:10283 | prostate cancer | |
DOID:10286 | prostate carcinoma | |
DOID:1059 | intellectual disability | |
DOID:10907 | microcephaly | |
DOID:11832 | visual epilepsy | |
DOID:13515 | tuberous sclerosis | |
DOID:14250 | Down syndrome | |
DOID:14323 | Marfan syndrome |
HPO ID | HPO Term |
---|---|
HP:0000007 | Autosomal recessive inheritance |
HP:0000054 | Micropenis |
HP:0000070 | Ureterocele |
HP:0000110 | Renal dysplasia |
HP:0000175 | Cleft palate |
HP:0000252 | Microcephaly |
HP:0000340 | Sloping forehead |
HP:0000463 | Anteverted nares |
HP:0000486 | Strabismus |
HP:0000729 | Autistic behavior |
Disease ID | Disease Name |
---|---|
ORPHA:1934 |
|
OMIM:617599 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
36805057 | WB:WBGene00303002 | ||
43168 | FB:FBgn0039405 | ||
103171880 | CALMI46258 | ||
102345315 | LATCH11850 | ||
325316 | ZFIN:ZDB-GENE-030131-4041 | DANRE00893 | |
103021711 | ASTMX03735 | ||
108276905 | ICTPU09004 | ||
113581656 | ELEEL27893 | ||
105023992 | ESOLU21302 | ||
100196862 | SALSA27404 |
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Partly supported by NIH Common Fund Grant #1U01GM125267-01
GlyCosmos Portal v4.0.0
Last updated: August 19, 2024