UniProt | Protein Name |
---|---|
Q96EG1 |
|
GO Term | Evidence Code | PMID |
---|---|---|
sulfur compound metabolic process |
GO Term | Evidence Code | PMID |
---|---|---|
endoplasmic reticulum lumen |
|
|
endoplasmic reticulum | ||
extracellular space | ||
lysosome |
GO Term | Evidence Code | PMID |
---|---|---|
metal ion binding | ||
N-sulfoglucosamine-3-sulfatase activity | ||
arylsulfatase activity |
DO ID | Disease Name | Source |
---|---|---|
DOID:10581 | metachromatic leukodystrophy | |
DOID:0050439 | Usher syndrome | |
DOID:0050534 | congenital stationary night blindness | |
DOID:0050753 | cerebellar ataxia | |
DOID:0050835 | generalized dystonia | |
DOID:0050836 | focal dystonia | |
DOID:0050841 | focal hand dystonia | |
DOID:0110720 | neuronal ceroid lipofuscinosis 4 | |
DOID:0110721 | neuronal ceroid lipofuscinosis 1 | |
DOID:0110722 | neuronal ceroid lipofuscinosis 7 |
HPO ID | HPO Term |
---|---|
HP:0000007 | Autosomal recessive inheritance |
HP:0000375 | Abnormal cochlea morphology |
HP:0000407 | Sensorineural hearing impairment |
HP:0000408 | Progressive sensorineural hearing impairment |
HP:0000483 | Astigmatism |
HP:0000512 | Abnormal electroretinogram |
HP:0000518 | Cataract |
HP:0000546 | Retinal degeneration |
HP:0000572 | Visual loss |
HP:0000575 | Scotoma |
Disease ID | Disease Name |
---|---|
ORPHA:231183 |
|
OMIM:618144 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
103175517 | CALMI08194 | ||
102363561 | LATCH16270 | ||
564790 | ZFIN:ZDB-GENE-060503-154 | DANRE03873 | |
103910035 | DANRE03873 | ||
108273761 | ICTPU05096 | ||
113574855 | ELEEL17077 | ||
106589598 | SALSA100838 | ||
115201402 | SALTR100192 | ||
115531290 | GADMO23731 | ||
100711085 | ORENI73012 |
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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