UniProt | Protein Name |
---|---|
Q9UPQ8 |
|
A0A0S2Z597 |
|
GO Term | Evidence Code | PMID |
---|---|---|
dolichyl monophosphate biosynthetic process | ||
dolichyl diphosphate biosynthetic process |
|
GO Term | Evidence Code | PMID |
---|---|---|
endoplasmic reticulum membrane |
DO ID | Disease Name | Source |
---|---|---|
DOID:0050428 | nonepidermolytic palmoplantar keratoderma | |
DOID:0050570 | congenital disorder of glycosylation type I | |
DOID:0080212 | polycystic kidney disease 4 | |
DOID:0080565 | congenital disorder of glycosylation Im | |
DOID:0080568 | congenital disorder of glycosylation Iq | |
DOID:0110423 | dilated cardiomyopathy 1C | |
DOID:0110424 | dilated cardiomyopathy 1CC | |
DOID:0110425 | dilated cardiomyopathy 1A | |
DOID:0110426 | dilated cardiomyopathy 1D | |
DOID:0110427 | dilated cardiomyopathy 1V |
HPO ID | HPO Term |
---|---|
HP:0000007 | Autosomal recessive inheritance |
HP:0000253 | Progressive microcephaly |
HP:0000407 | Sensorineural hearing impairment |
HP:0000486 | Strabismus |
HP:0000505 | Visual impairment |
HP:0000639 | Nystagmus |
HP:0000653 | Sparse eyelashes |
HP:0000729 | Autistic behavior |
HP:0000817 | Reduced eye contact |
HP:0000958 | Dry skin |
Disease ID | Disease Name |
---|---|
ORPHA:154 |
|
ORPHA:91131 |
|
OMIM:610768 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
108699959 | Xenbase:XB-GENE-17330282 | ||
100380159 | Xenbase:XB-GENE-966505 | ||
101947859 | CHRPI10541 | ||
109313916 | CROPO20126 | ||
113443768 | PSETE16621 | ||
100549792 | MELGA05221 | ||
103819015 | SERCA14557 | ||
100088250 | ORNAN20145 | ||
100925391 | SARHA03091 | ||
101439584 | DASNO17265 |
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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