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:0005484 | Secondary microcephaly |
HP:0006829 | Severe muscular hypotonia |
HP:0007359 | Focal-onset seizure |
HP:0008064 | Ichthyosis |
HP:0008947 | Infantile muscular hypotonia |
HP:0010841 | Multifocal epileptiform discharges |
HP:0010845 | EEG with generalized slow activity |
HP:0011123 | Inflammatory abnormality of the skin |
HP:0011342 | Mild global developmental delay |
HP:0011675 | Arrhythmia |
Disease ID | Disease Name |
---|---|
ORPHA:154 |
|
ORPHA:91131 |
|
OMIM:610768 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
100895983 | CALJA21179 | ||
105576207 | CERAT27507 | ||
717045 | MACMU11971 | ||
105464001 | MACNE28398 | ||
105532866 | MANLE22563 | ||
100982127 | PANPA40426 | ||
107976791 | PANTR44998 | ||
100294666 | PONAB36376 | ||
112927959 | VULVU22546 | ||
100463796 | AILME16872 |
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Partly supported by NIH Common Fund Grant #1U01GM125267-01
GlyCosmos Portal v4.0.0
Last updated: August 19, 2024