UniProt | Protein Name |
---|---|
Q75T13 |
|
GO Term | Evidence Code | PMID |
---|---|---|
positive regulation of ER to Golgi vesicle-mediated transport | ||
embryonic pattern specification | ||
sensory perception of sound | ||
GPI anchor metabolic process | ||
anterior/posterior axis specification |
GO Term | Evidence Code | PMID |
---|---|---|
endoplasmic reticulum | ||
endoplasmic reticulum membrane |
|
GO Term | Evidence Code | PMID |
---|---|---|
phosphatidylinositol deacylase activity | ||
hydrolase activity, acting on ester bonds |
|
HPO ID | HPO Term |
---|---|
HP:0006297 | Enamel hypoplasia |
HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis |
HP:0006934 | Congenital nystagmus |
HP:0007020 | Progressive spastic paraplegia |
HP:0008936 | Axial hypotonia |
HP:0010864 | Intellectual disability, severe |
HP:0011463 | Childhood onset |
HP:0011471 | Gastrostomy tube feeding in infancy |
HP:0011968 | Feeding difficulties |
HP:0012447 | Abnormal myelination |
Disease ID | Disease Name |
---|---|
OMIM:615802 |
|
ORPHA:401820 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
100761032 | CRIGR24808 | ||
241062 | MGI:2443342 | MOUSE28128 | |
316400 | RGD:1303213 | RATNO42385 | |
100724070 | CAVPO22024 | ||
101577525 | OCTDE06204 | ||
100029599 | MONDO23172 | ||
100561975 | ANOCA16028 | ||
103659703 | URSMA01378 | ||
114045794 | VOMUR02975 | ||
113905745 | BOBOX37449 |
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Partly supported by NIH Common Fund Grant #1U01GM125267-01
GlyCosmos Portal v4.0.0
Last updated: August 19, 2024