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:0110183 | Charcot-Marie-Tooth disease type 4C | |
DOID:0110184 | Charcot-Marie-Tooth disease type 4J | |
DOID:0110185 | Charcot-Marie-Tooth disease type 4A | |
DOID:0110186 | Charcot-Marie-Tooth disease type 4D | |
DOID:0110187 | Charcot-Marie-Tooth disease type 4K | |
DOID:0110190 | Charcot-Marie-Tooth disease type 4B2 | |
DOID:0110191 | Charcot-Marie-Tooth disease type 4B1 | |
DOID:0110192 | Charcot-Marie-Tooth disease type 4H | |
DOID:0110193 | Charcot-Marie-Tooth disease type 4F | |
DOID:0110194 | Charcot-Marie-Tooth disease type 4B3 |
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 |
---|---|---|---|
101326204 | TURTR16116 | ||
118906091 | BALMU05529 | ||
100660001 | LOXAF12715 | ||
100072273 | HORSE10125 | ||
100170845 | PIGXX22538 | ||
102180603 | CAPHI02250 | ||
101120647 | SHEEP13534 | ||
100346262 | RABIT08810 | ||
127490351 | RABIT08810 | ||
105983717 | DIPOR03243 |
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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