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:0070309 | absence epilepsy | |
DOID:0050428 | nonepidermolytic palmoplantar keratoderma | |
DOID:0050841 | focal hand dystonia | |
DOID:0060216 | Cogan syndrome | |
DOID:0060249 | scoliosis | |
DOID:0060823 | syndromic X-linked intellectual disability 94 | |
DOID:0070434 | hyperphosphatasia with impaired intellectual development syndrome 2 | |
DOID:0080199 | colorectal carcinoma | |
DOID:0110213 | isolated cleft palate | |
DOID:10003 | sensorineural hearing loss |
HPO ID | HPO Term |
---|---|
HP:0001804 | Hypoplastic fingernail |
HP:0001999 | Abnormal facial shape |
HP:0002023 | Anal atresia |
HP:0002025 | Anal stenosis |
HP:0002069 | Bilateral tonic-clonic seizure |
HP:0002119 | Ventriculomegaly |
HP:0002251 | Aganglionic megacolon |
HP:0002342 | Intellectual disability, moderate |
HP:0002392 | EEG with polyspike wave complexes |
HP:0002553 | Highly arched eyebrow |
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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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