UniProt | Protein Name |
---|---|
P04180 |
|
A0A140VK24 |
|
GO Term | Evidence Code | PMID |
---|---|---|
cholesterol homeostasis | ||
cholesterol transport | ||
phosphatidylcholine biosynthetic process | ||
phosphatidylcholine metabolic process | ||
cholesterol 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:0110182 | Charcot-Marie-Tooth disease axonal type 2C | |
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:576 | proteinuria | |
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 |
HPO ID | HPO Term |
---|---|
HP:0002240 | Hepatomegaly |
HP:0002621 | Atherosclerosis |
HP:0002716 | Lymphadenopathy |
HP:0003141 | Increased LDL cholesterol concentration |
HP:0003233 | Decreased HDL cholesterol concentration |
HP:0003362 | Increased VLDL cholesterol concentration |
HP:0003581 | Adult onset |
HP:0003651 | Foam cells |
HP:0007759 | Opacification of the corneal stroma |
HP:0007957 | Corneal opacity |
Disease ID | Disease Name |
---|---|
ORPHA:79292 |
|
OMIM:245900 |
|
OMIM:136120 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
172457 | WB:WBGene00010872 | ||
261623 | FB:FBgn0051683 | ||
326109 | FB:FBgn0042175 | ||
103187891 | CALMI37770 | ||
793137 | ZFIN:ZDB-GENE-010716-3 | DANRE27475 | |
103041308 | ASTMX18246 | ||
100528492 | ICTPU34343 | ||
113581779 | ELEEL28395 | ||
106560930 | SALSA11172 | ||
106573639 | SALSA47493 |
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Partly supported by NIH Common Fund Grant #1U01GM125267-01
GlyCosmos Portal v4.0.0
Last updated: August 19, 2024