UniProt | Protein Name |
---|---|
Q8TEQ8 |
|
GO Term | Evidence Code | PMID |
---|---|---|
GPI anchor biosynthetic process |
GO Term | Evidence Code | PMID |
---|---|---|
mannose-ethanolamine phosphotransferase activity |
DO ID | Disease Name | Source |
---|---|---|
DOID:10293 | monocular esotropia | |
DOID:10487 | Hirschsprung's disease | |
DOID:10488 | imperforate anus | |
DOID:1059 | intellectual disability | |
DOID:11111 | hydronephrosis | |
DOID:11832 | visual epilepsy | |
DOID:12215 | oligohydramnios | |
DOID:1270 | hereditary hemorrhagic telangiectasia | |
DOID:1271 | capillary disease | |
DOID:1272 | telangiectasis |
HPO ID | HPO Term |
---|---|
HP:0000289 | Broad philtrum |
HP:0000303 | Mandibular prognathia |
HP:0000311 | Round face |
HP:0000316 | Hypertelorism |
HP:0000322 | Short philtrum |
HP:0000347 | Micrognathia |
HP:0000365 | Hearing impairment |
HP:0000378 | Cupped ear |
HP:0000391 | Thickened helices |
HP:0000414 | Bulbous nose |
Disease ID | Disease Name |
---|---|
OMIM:614749 |
|
ORPHA:247262 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
100728242 | CAVPO12743 | ||
101570653 | OCTDE10435 | ||
101879056 | MELUD17223 | ||
100028427 | MONDO30549 | ||
107094680 | CYPVA19431 | ||
103667065 | URSMA19428 | ||
114028818 | VOMUR31899 | ||
113897156 | BOBOX32075 | ||
105874326 | MICMU06671 | ||
100951615 | OTOGA03191 |
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Partly supported by NIH Common Fund Grant #1U01GM125267-01
GlyCosmos Portal v4.0.0
Last updated: August 19, 2024