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:3327 | partial motor epilepsy | |
DOID:4090 | agnosia | |
DOID:4480 | achondroplasia | |
DOID:4621 | holoprosencephaly | |
DOID:4964 | neurotic disorder | |
DOID:5212 | congenital disorder of glycosylation | |
DOID:543 | dystonia | |
DOID:8501 | fundus dystrophy | |
DOID:8584 | Burkitt lymphoma | |
DOID:8927 | learning disability |
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 |
---|---|---|---|
101145385 | GORGO26440 | ||
100979650 | PANPA26324 | ||
745391 | PANTR29419 | ||
612828 | CANLF14080 | ||
112922906 | VULVU16194 | ||
123798162 | URSAM10829 | ||
100478076 | AILME11992 | ||
101681493 | MUSPF04934 | ||
101083194 | FELCA18362 | ||
122226431 | PANLE10861 |
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GlyCosmos Portal v4.0.0
Last updated: August 19, 2024