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 |
|
DO ID | Disease Name | Source |
---|---|---|
DOID:1443 | cerebral degeneration | |
DOID:1470 | major depressive disorder | |
DOID:1595 | melancholic depression | |
DOID:1596 | depressive disorder | |
DOID:1826 | epilepsy | |
DOID:2231 | factor XII deficiency | |
DOID:2234 | focal epilepsy | |
DOID:2303 | stereotypic movement disorder | |
DOID:2481 | obsolete infantile epileptic encephalopathy | |
DOID:2848 | obsolete melancholia |
HPO ID | HPO Term |
---|---|
HP:0002188 | Delayed CNS myelination |
HP:0002342 | Intellectual disability, moderate |
HP:0002355 | Difficulty walking |
HP:0002553 | Highly arched eyebrow |
HP:0003202 | Skeletal muscle atrophy |
HP:0003487 | Babinski sign |
HP:0003593 | Infantile onset |
HP:0003700 | Generalized amyotrophy |
HP:0004322 | Short stature |
HP:0005280 | Depressed nasal bridge |
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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GlyCosmos Portal v4.0.0
Last updated: August 19, 2024