UniProt | Protein Name |
---|---|
Q969N2 |
|
GO Term | Evidence Code | PMID |
---|---|---|
neuron differentiation | ||
neuron apoptotic process | ||
attachment of GPI anchor to protein |
GO Term | Evidence Code | PMID |
---|---|---|
endoplasmic reticulum membrane | ||
membrane | ||
GPI-anchor transamidase complex | ||
cytoplasmic vesicle |
GO Term | Evidence Code | PMID |
---|---|---|
protein binding |
DO ID | Disease Name | Source |
---|---|---|
DOID:12679 | nephrocalcinosis | |
DOID:13174 | dissociated nystagmus | |
DOID:13515 | tuberous sclerosis | |
DOID:13832 | patent ductus arteriosus | |
DOID:14213 | hypophosphatasia | |
DOID:1432 | blindness | |
DOID:14323 | Marfan syndrome | |
DOID:1443 | cerebral degeneration | |
DOID:1555 | urticaria | |
DOID:1558 | angioedema |
HPO ID | HPO Term |
---|---|
HP:0010864 | Intellectual disability, severe |
HP:0011199 | EEG with generalized sharp slow waves |
HP:0011330 | Metopic synostosis |
HP:0011448 | Ankle clonus |
HP:0011470 | Nasogastric tube feeding in infancy |
HP:0011842 | Abnormal skeletal morphology |
HP:0012373 | Abnormal eye physiology |
HP:0012378 | Fatigue |
HP:0012718 | Abnormal gastrointestinal tract morphology |
HP:0100704 | Cerebral visual impairment |
Disease ID | Disease Name |
---|---|
OMIM:615398 |
|
ORPHA:369837 |
|
OMIM:615399 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
101049096 | SAIBB26801 | ||
111219025 | SERDU11114 | ||
108438210 | PYGNA22658 | ||
101975594 | ICTTR02690 | ||
103138938 | POEFO06567 | ||
102426182 | MYOLU06549 | ||
117016050 | RHIFE23975 | ||
100230623 | TAEGU12543 | ||
103245365 | CHLSB07647 | ||
108533355 | RHIBE04113 |
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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