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:0110459 | dilated cardiomyopathy 1FF | |
DOID:0110460 | dilated cardiomyopathy 2A | |
DOID:0110461 | X-linked dilated cardiomyopathy | |
DOID:0110861 | autosomal recessive polycystic kidney disease | |
DOID:0111135 | congenital generalized lipodystrophy type 1 | |
DOID:0111136 | congenital generalized lipodystrophy type 2 | |
DOID:0111137 | congenital generalized lipodystrophy type 3 | |
DOID:0111138 | congenital generalized lipodystrophy type 4 | |
DOID:0111338 | isolated elevated serum creatine phosphokinase levels | |
DOID:10003 | sensorineural hearing loss |
HPO ID | HPO Term |
---|---|
HP:0000962 | Hyperkeratosis |
HP:0000969 | Edema |
HP:0001249 | Intellectual disability |
HP:0001250 | Seizure |
HP:0001252 | Hypotonia |
HP:0001270 | Motor delay |
HP:0001344 | Absent speech |
HP:0001508 | Failure to thrive |
HP:0001522 | Death in infancy |
HP:0001596 | Alopecia |
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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Partly supported by NIH Common Fund Grant #1U01GM125267-01
GlyCosmos Portal v4.0.0
Last updated: August 19, 2024