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: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 | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
103390341 | CYNSE08804 | ||
105819958 | PROCO15363 | ||
850628 | SGD:S000003954 | ||
103741553 | NANGA14350 | ||
116438609 | CORMO28345 | ||
103256917 | CARSF22726 | ||
115619739 | STRHB08712 |
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Partly supported by NIH Common Fund Grant #1U01GM125267-01
GlyCosmos Portal v4.0.0
Last updated: August 19, 2024