UniProt | Protein Name |
---|---|
Q14693 |
|
GO Term | Evidence Code | PMID |
---|---|---|
phosphatidylethanolamine metabolic process | ||
negative regulation of myelination | ||
triglyceride mobilization | ||
cellular response to insulin stimulus | ||
mitotic nuclear membrane disassembly |
|
GO Term | Evidence Code | PMID |
---|---|---|
phosphatidate phosphatase activity | ||
transcription coactivator activity | ||
protein binding |
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
DO ID | Disease Name | Source |
---|---|---|
DOID:0080108 | myoglobinuria | |
DOID:0080155 | very long chain acyl-CoA dehydrogenase deficiency | |
DOID:0080199 | colorectal carcinoma | |
DOID:0090003 | agenesis of the corpus callosum with peripheral neuropathy | |
DOID:0110148 | Charcot-Marie-Tooth disease type 1A | |
DOID:0110149 | Charcot-Marie-Tooth disease type 1F | |
DOID:0110150 | Charcot-Marie-Tooth disease type 1D | |
DOID:0110153 | Charcot-Marie-Tooth disease type 1E | |
DOID:0110154 | Charcot-Marie-Tooth disease type 2A1 | |
DOID:0110155 | Charcot-Marie-Tooth disease type 2A2A |
HPO ID | HPO Term |
---|---|
HP:0000007 | Autosomal recessive inheritance |
HP:0000083 | Renal insufficiency |
HP:0000467 | Neck muscle weakness |
HP:0001265 | Hyporeflexia |
HP:0001284 | Areflexia |
HP:0001315 | Reduced tendon reflexes |
HP:0001324 | Muscle weakness |
HP:0001919 | Acute kidney injury |
HP:0001945 | Fever |
HP:0002153 | Hyperkalemia |
Disease ID | Disease Name |
---|---|
ORPHA:99845 |
|
OMIM:268200 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
113901554 | BOBOX19203 | ||
100947333 | OTOGA13973 | ||
102008002 | CHILA19216 | ||
105707793 | AOTNA16120 | ||
101043637 | SAIBB12177 | ||
101974557 | ICTTR07205 | ||
101610849 | JACJA17458 | ||
102426579 | MYOLU17280 | ||
117032949 | RHIFE24287 | ||
100231657 | TAEGU21977 |
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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