UniProt | Protein Name |
---|---|
P04180 |
|
A0A140VK24 |
|
GO Term | Evidence Code | PMID |
---|---|---|
very-low-density lipoprotein particle remodeling | ||
phospholipid metabolic process |
GO Term | Evidence Code | PMID |
---|---|---|
high-density lipoprotein particle | ||
extracellular region |
|
|
extracellular space | ||
extracellular exosome |
GO Term | Evidence Code | PMID |
---|---|---|
phosphatidylcholine-sterol O-acyltransferase activity | ||
sterol esterase activity | ||
platelet-activating factor acetyltransferase activity | ||
apolipoprotein A-I binding | ||
protein binding |
DO ID | Disease Name | Source |
---|---|---|
DOID:0110155 | Charcot-Marie-Tooth disease type 2A2A | |
DOID:0110156 | Charcot-Marie-Tooth disease type 2B1 | |
DOID:0110157 | Charcot-Marie-Tooth disease type 2J | |
DOID:0110158 | Charcot-Marie-Tooth disease type 2I | |
DOID:0110159 | Charcot-Marie-Tooth disease type 2B | |
DOID:0110160 | Charcot-Marie-Tooth disease axonal type 2T | |
DOID:0110161 | Charcot-Marie-Tooth disease type 2R | |
DOID:0110163 | Charcot-Marie-Tooth disease axonal type 2F | |
DOID:0110164 | Charcot-Marie-Tooth disease type 2D | |
DOID:0110165 | Charcot-Marie-Tooth disease type 2E |
HPO ID | HPO Term |
---|---|
HP:0000007 | Autosomal recessive inheritance |
HP:0000083 | Renal insufficiency |
HP:0000093 | Proteinuria |
HP:0000505 | Visual impairment |
HP:0001084 | Corneal arcus |
HP:0001681 | Angina pectoris |
HP:0001744 | Splenomegaly |
HP:0001878 | Hemolytic anemia |
HP:0001895 | Normochromic anemia |
HP:0002155 | Hypertriglyceridemia |
Disease ID | Disease Name |
---|---|
ORPHA:79292 |
|
OMIM:245900 |
|
OMIM:136120 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
100976085 | PANPA15466 | ||
743056 | PANTR12649 | ||
103892697 | PONAB11130 | ||
479680 | CANLF16031 | ||
112929443 | VULVU24526 | ||
123803442 | URSAM02421 | ||
100469078 | AILME13616 | ||
122209182 | PANLE30153 | ||
117309119 | TURTR06412 | ||
118884756 | BALMU17165 |
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Partly supported by NIH Common Fund Grant #1U01GM125267-01
GlyCosmos Portal v4.0.0
Last updated: August 19, 2024