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:0002835 | Aspiration |
HP:0002875 | Exertional dyspnea |
HP:0002910 | Elevated circulating hepatic transaminase concentration |
HP:0003198 | Myopathy |
HP:0003323 | Progressive muscle weakness |
HP:0003457 | EMG abnormality |
HP:0003577 | Congenital onset |
HP:0003593 | Infantile onset |
HP:0003642 | Type I transferrin isoform profile |
HP:0004322 | Short stature |
Disease ID | Disease Name |
---|---|
ORPHA:154 |
|
ORPHA:91131 |
|
OMIM:610768 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
101033864 | SAIBB32656 | ||
101974633 | ICTTR18169 | ||
101606839 | JACJA23948 | ||
118285152 | SCOMX09886 | ||
102431835 | MYOLU14758 | ||
117031618 | RHIFE22229 | ||
100217598 | TAEGU06484 | ||
101810760 | FICAL06106 | ||
103239779 | CHLSB02986 | ||
108512825 | RHIBE17609 |
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Partly supported by NIH Common Fund Grant #1U01GM125267-01
GlyCosmos Portal v4.0.0
Last updated: August 19, 2024