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 |
---|---|---|---|
101331305 | TURTR16061 | ||
118898419 | BALMU00550 | ||
100666144 | LOXAF18837 | ||
100070459 | HORSE13538 | ||
100620753 | PIGXX09715 | ||
504677 | BOVIN24493 | ||
102170473 | CAPHI20586 | ||
101120808 | SHEEP09616 | ||
100348476 | RABIT11878 | ||
105995540 | DIPOR00392 |
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Partly supported by NIH Common Fund Grant #1U01GM125267-01
GlyCosmos Portal v4.0.0
Last updated: August 19, 2024