UniProt | Protein Name |
---|---|
Q9NUD9 |
|
GO Term | Evidence Code | PMID |
---|---|---|
GPI anchor biosynthetic process | ||
preassembly of GPI anchor in ER membrane |
GO Term | Evidence Code | PMID |
---|---|---|
endoplasmic reticulum membrane | ||
membrane | ||
mannosyltransferase complex |
GO Term | Evidence Code | PMID |
---|---|---|
glycolipid mannosyltransferase activity | ||
alpha-1,6-mannosyltransferase activity | ||
mannosyltransferase activity | ||
protein binding |
DO ID | Disease Name | Source |
---|---|---|
DOID:0050841 | focal hand dystonia | |
DOID:0060216 | Cogan syndrome | |
DOID:0060249 | scoliosis | |
DOID:0060823 | syndromic X-linked intellectual disability 94 | |
DOID:0070433 | hyperphosphatasia with impaired intellectual development syndrome 1 | |
DOID:10003 | sensorineural hearing loss | |
DOID:10293 | monocular esotropia | |
DOID:10487 | Hirschsprung's disease | |
DOID:1059 | intellectual disability | |
DOID:11014 | anorectal stricture |
HPO ID | HPO Term |
---|---|
HP:0000007 | Autosomal recessive inheritance |
HP:0000126 | Hydronephrosis |
HP:0000175 | Cleft palate |
HP:0000193 | Bifid uvula |
HP:0000204 | Cleft upper lip |
HP:0000218 | High palate |
HP:0000219 | Thin upper lip vermilion |
HP:0000238 | Hydrocephalus |
HP:0000248 | Brachycephaly |
HP:0000272 | Malar flattening |
Disease ID | Disease Name |
---|---|
OMIM:239300 |
|
ORPHA:247262 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
115396743 | SALFA31180 | ||
113488393 | ATHCN21711 | ||
105811729 | PROCO21959 | ||
852289 | SGD:S000000208 | ||
103737120 | NANGA22694 | ||
116455015 | CORMO11379 | ||
103267530 | CARSF27595 | ||
115616198 | STRHB12638 |
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Partly supported by NIH Common Fund Grant #1U01GM125267-01
GlyCosmos Portal v4.0.0
Last updated: August 19, 2024