GO Term | Evidence Code | PMID |
---|---|---|
positive regulation of astrocyte differentiation | ||
central nervous system myelin formation | ||
negative regulation of axon extension | ||
negative regulation of neuron differentiation | ||
transmission of nerve impulse |
GO Term | Evidence Code | PMID |
---|---|---|
compact myelin | ||
Schmidt-Lanterman incisure | ||
plasma membrane | ||
myelin sheath | ||
paranode region of axon |
GO Term | Evidence Code | PMID |
---|---|---|
protein homodimerization activity | ||
ganglioside GT1b binding | ||
signaling receptor binding | ||
protein kinase binding | ||
sialic acid binding |
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
DO ID | Disease Name | Source |
---|---|---|
DOID:0050539 | Charcot-Marie-Tooth disease type 2 | |
DOID:0050541 | Charcot-Marie-Tooth disease type 4 | |
DOID:0050635 | alternating hemiplegia of childhood | |
DOID:0050753 | cerebellar ataxia | |
DOID:0050886 | Troyer syndrome | |
DOID:0060245 | Mast syndrome | |
DOID:0060246 | MASA syndrome | |
DOID:0060491 | SPOAN syndrome | |
DOID:0060551 | poikiloderma with neutropenia | |
DOID:0060600 | obsolete hereditary motor and sensory neuropathy with agenesis of the corpus callosum |
HPO ID | HPO Term |
---|---|
HP:0000007 | Autosomal recessive inheritance |
HP:0000483 | Astigmatism |
HP:0000501 | Glaucoma |
HP:0000540 | Hypermetropia |
HP:0000639 | Nystagmus |
HP:0000648 | Optic atrophy |
HP:0001249 | Intellectual disability |
HP:0001252 | Hypotonia |
HP:0001257 | Spasticity |
HP:0001258 | Spastic paraplegia |
Disease ID | Disease Name |
---|---|
ORPHA:459056 |
|
OMIM:616680 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
102361491 | LATCH02196 | ||
474346 | ZFIN:ZDB-GENE-041217-24 | DANRE09035 | |
108277883 | ICTPU10227 | ||
113587128 | ELEEL39003 | ||
106582469 | SALSA105023 | ||
115177062 | SALTR84508 | ||
115177436 | SALTR45620 | ||
115554112 | GADMO05705 | ||
101159465 | ORYLA06016 | ||
115567169 | SPAAU60348 |
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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