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:0001257 | Spasticity |
HP:0001263 | Global developmental delay |
HP:0001270 | Motor delay |
HP:0001274 | Agenesis of corpus callosum |
HP:0001276 | Hypertonia |
HP:0001319 | Neonatal hypotonia |
HP:0001320 | Cerebellar vermis hypoplasia |
HP:0001344 | Absent speech |
HP:0001347 | Hyperreflexia |
HP:0001508 | Failure to thrive |
Disease ID | Disease Name |
---|---|
OMIM:615802 |
|
ORPHA:401820 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
101807207 | FICAL03802 | ||
103217575 | CHLSB01487 | ||
108527826 | RHIBE07747 | ||
104676740 | RHIRO12961 | ||
100603465 | NOMLE21673 | ||
115061912 | ECHNA12383 | ||
850519 | SGD:S000001869 | ||
109095948 | CYPCA51477 | ||
116446432 | CORMO24214 | ||
115608075 | STRHB03321 |
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Partly supported by NIH Common Fund Grant #1U01GM125267-01
GlyCosmos Portal v4.0.0
Last updated: August 19, 2024