UniProt | Protein Name |
---|---|
Q8TEQ8 |
|
GO Term | Evidence Code | PMID |
---|---|---|
GPI anchor biosynthetic process |
GO Term | Evidence Code | PMID |
---|---|---|
mannose-ethanolamine phosphotransferase activity |
Gene Ontology |
---|
mannose-ethanolamine phosphotransferase activity |
transferase activity, transferring phosphorus-containing groups |
transferase activity |
DO ID | Disease Name | Source |
---|---|---|
DOID:0070434 | hyperphosphatasia with impaired intellectual development syndrome 2 |
HPO ID | HPO Term |
---|---|
HP:0000007 | Autosomal recessive inheritance |
HP:0000076 | Vesicoureteral reflux |
HP:0000126 | Hydronephrosis |
HP:0000175 | Cleft palate |
HP:0000193 | Bifid uvula |
HP:0000218 | High palate |
HP:0000248 | Brachycephaly |
HP:0000252 | Microcephaly |
HP:0000280 | Coarse facial features |
HP:0000286 | Epicanthus |
Disease ID | Disease Name |
---|---|
OMIM:614749 |
|
ORPHA:247262 |
|
Species | Gene ID | OrthoDB | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|---|
116836659 | CHEAB17040 | |||
116942204 | PETMA01180 | |||
117031808 | RHIFE21130 | |||
118284985 | SCOMX09288 | |||
118897338 | BALMU13487 | |||
122205632 | PANLE25729 | |||
123781005 | URSAM00926 | |||
129044644 | 9600_0:0024e2 |
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Partly supported by NIH Common Fund Grant #1U01GM125267-01
GlyCosmos Portal v4.1.0
Last updated: December 9, 2024