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 |
HPO ID | HPO Term |
---|---|
HP:0005280 | Depressed nasal bridge |
HP:0006480 | Premature loss of teeth |
HP:0006961 | Jerky head movements |
HP:0008676 | Congenital megaureter |
HP:0009824 | Upper limb undergrowth |
HP:0010536 | Central sleep apnea |
HP:0010804 | Tented upper lip vermilion |
HP:0010818 | Generalized tonic seizure |
HP:0010841 | Multifocal epileptiform discharges |
HP:0010850 | EEG with spike-wave complexes |
Disease ID | Disease Name |
---|---|
OMIM:615398 |
|
ORPHA:369837 |
|
OMIM:615399 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
103669872 | URSMA14596 | ||
114035550 | VOMUR11192 | ||
105879785 | MICMU02971 | ||
100962465 | OTOGA13769 | ||
101061476 | TAKRU36220 | ||
102793327 | NEOBR05529 | ||
102005645 | CHILA11869 | ||
108236710 | KRYMA11529 | ||
105727457 | AOTNA07552 | ||
110206579 | PHACI34217 |
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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