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 |
---|---|---|---|
101116296 | SHEEP13388 | ||
100344382 | RABIT18281 | ||
105989346 | DIPOR14960 | ||
100768385 | CRIGR24902 | ||
227697 | MGI:2677836 | MOUSE32989 | |
311847 | RGD:1310821 | RATNO28868 | |
100723647 | CAVPO12798 | ||
101574566 | OCTDE19039 | ||
101711037 | HETGA12666 | ||
101875098 | MELUD12526 |
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Partly supported by NIH Common Fund Grant #1U01GM125267-01
GlyCosmos Portal v4.0.0
Last updated: August 19, 2024