GO Term | Evidence Code | PMID |
---|---|---|
regulation of epithelial cell migration | ||
response to nutrient | ||
lysosomal transport |
|
|
lysosome organization |
|
|
positive regulation of neuron projection development |
GO Term | Evidence Code | PMID |
---|---|---|
endoplasmic reticulum lumen |
|
|
extracellular region |
|
|
cell surface | ||
lysosomal lumen |
|
|
ficolin-1-rich granule lumen |
|
GO Term | Evidence Code | PMID |
---|---|---|
N-acetylgalactosamine-4-sulfatase activity | ||
metal ion binding | ||
arylsulfatase activity |
|
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
DO ID | Disease Name | Source |
---|---|---|
DOID:11328 | schizophreniform disorder | |
DOID:11984 | hypertrophic cardiomyopathy | |
DOID:12798 | mucopolysaccharidosis | |
DOID:12799 | mucopolysaccharidosis II | |
DOID:12800 | mucopolysaccharidosis VI | |
DOID:12801 | mucopolysaccharidosis III | |
DOID:12802 | mucopolysaccharidosis I | |
DOID:12804 | mucopolysaccharidosis IV | |
DOID:12932 | endomyocardial fibrosis | |
DOID:14159 | obstructive hydrocephalus |
HPO ID | HPO Term |
---|---|
HP:0000007 | Autosomal recessive inheritance |
HP:0000023 | Inguinal hernia |
HP:0000158 | Macroglossia |
HP:0000238 | Hydrocephalus |
HP:0000256 | Macrocephaly |
HP:0000268 | Dolichocephaly |
HP:0000280 | Coarse facial features |
HP:0000365 | Hearing impairment |
HP:0000501 | Glaucoma |
HP:0000670 | Carious teeth |
Disease ID | Disease Name |
---|---|
OMIM:253200 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
113590451 | ELEEL44822 | ||
105015172 | ESOLU42906 | ||
100380367 | SALSA15487 | ||
115203930 | SALTR77198 | ||
115541993 | GADMO46578 | ||
103473308 | POERE04721 | ||
102227522 | XIPMA33963 | ||
100697368 | ORENI65116 | ||
102312527 | HAPBU14656 | ||
113025439 | ASTCA36248 |
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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