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: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 |
---|---|---|---|
113148522 | ANATE30618 | ||
114606302 | PODMU10135 | ||
107555520 | SINGR70011 | ||
107567449 | SINGR91058 | ||
111573551 | AMPOC23226 | ||
106846996 | EQUAS27730 | ||
116836659 | CHEAB17040 | ||
109530181 | HIPCM12337 | ||
105306448 | PTEVA11256 | ||
115052134 | ECHNA50991 |
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Partly supported by NIH Common Fund Grant #1U01GM125267-01
GlyCosmos Portal v4.0.0
Last updated: August 19, 2024