GO Term | Evidence Code | PMID |
---|---|---|
protein complex oligomerization | ||
lysosomal transport | ||
heparan sulfate proteoglycan catabolic process |
GO Term | Evidence Code | PMID |
---|---|---|
plasma membrane |
|
|
lysosomal membrane | ||
lysosomal lumen | ||
specific granule membrane |
|
|
tertiary granule membrane |
|
GO Term | Evidence Code | PMID |
---|---|---|
heparan-alpha-glucosaminide N-acetyltransferase activity |
|
|
acyltransferase activity |
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
DO ID | Disease Name | Source |
---|---|---|
DOID:0050534 | congenital stationary night blindness | |
DOID:0050572 | cone-rod dystrophy | |
DOID:0050782 | Zollinger-Ellison syndrome | |
DOID:0060249 | scoliosis | |
DOID:0110307 | hypertrophic cardiomyopathy 1 | |
DOID:0110389 | retinitis pigmentosa 73 | |
DOID:0110870 | congenital stationary night blindness 1A | |
DOID:0111390 | mucopolysaccharidosis Ih | |
DOID:0111393 | mucopolysaccharidosis type IIIC | |
DOID:0111394 | mucopolysaccharidosis type IIIB |
HPO ID | HPO Term |
---|---|
HP:0000007 | Autosomal recessive inheritance |
HP:0000035 | Abnormal testis morphology |
HP:0000135 | Hypogonadism |
HP:0000232 | Everted lower lip vermilion |
HP:0000250 | Dense calvaria |
HP:0000268 | Dolichocephaly |
HP:0000280 | Coarse facial features |
HP:0000365 | Hearing impairment |
HP:0000405 | Conductive hearing impairment |
HP:0000407 | Sensorineural hearing impairment |
Disease ID | Disease Name |
---|---|
OMIM:616544 |
|
ORPHA:791 |
|
OMIM:252930 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
31423 | FB:FBgn0029737 | ||
103180601 | CALMI20785 | ||
100329505 | ZFIN:ZDB-GENE-140106-144 | ||
103035691 | ASTMX19008 | ||
113591477 | ELEEL46554 | ||
106590768 | SALSA00987 | ||
106610562 | SALSA00987 | ||
123739017 | SALSA00987 | ||
115187357 | SALTR46917 | ||
115539827 | GADMO43620 |
GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.
Supported by JST NBDC Grant Number JPMJND2204
Partly supported by NIH Common Fund Grant #1U01GM125267-01
This work is licensed under Creative Commons Attribution 4.0 International
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Last updated: August 19, 2024