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 |
---|---|---|---|
101807207 | FICAL03802 | ||
103217575 | CHLSB01487 | ||
108527826 | RHIBE07747 | ||
104676740 | RHIRO12961 | ||
100603465 | NOMLE21673 | ||
115061912 | ECHNA12383 | ||
850519 | SGD:S000001869 | ||
109095948 | CYPCA51477 | ||
116446432 | CORMO24214 | ||
115608075 | STRHB03321 |
GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.
Supported by JST NBDC Grant Number JPMJND2204
Partly supported by NIH Common Fund Grant #1U01GM125267-01
GlyCosmos Portal v4.0.0
Last updated: August 19, 2024