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:0060284 | paroxysmal nocturnal hemoglobinuria | |
DOID:0060308 | autosomal recessive intellectual developmental disorder | |
DOID:0060810 | syndromic X-linked intellectual disability type 10 | |
DOID:0060823 | syndromic X-linked intellectual disability 94 | |
DOID:0110881 | holoprosencephaly 1 | |
DOID:1059 | intellectual disability | |
DOID:10907 | microcephaly | |
DOID:11832 | visual epilepsy | |
DOID:12139 | dysthymic disorder | |
DOID:12859 | choreatic disease |
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 |
---|---|---|---|
100964587 | OTOGA06631 | ||
101076937 | TAKRU26411 | ||
102025426 | CHILA00434 | ||
105718373 | AOTNA26680 | ||
101043843 | SAIBB09736 | ||
111218622 | SERDU02339 | ||
101603372 | JACJA04921 | ||
102428321 | MYOLU00868 | ||
117026012 | RHIFE14454 | ||
100227199 | TAEGU28443 |
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GlyCosmos Portal v4.0.0
Last updated: August 19, 2024