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:0110193 | Charcot-Marie-Tooth disease type 4F | |
DOID:0110194 | Charcot-Marie-Tooth disease type 4B3 | |
DOID:0110195 | Charcot-Marie-Tooth disease type 4E | |
DOID:0110196 | Charcot-Marie-Tooth disease type 4G | |
DOID:0110197 | Charcot-Marie-Tooth disease dominant intermediate B | |
DOID:0110198 | Charcot-Marie-Tooth disease recessive intermediate C | |
DOID:0110199 | Charcot-Marie-Tooth disease dominant intermediate C | |
DOID:0110200 | Charcot-Marie-Tooth disease dominant intermediate D | |
DOID:0110202 | Charcot-Marie-Tooth disease dominant intermediate A | |
DOID:0110203 | Charcot-Marie-Tooth disease recessive intermediate D |
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 |
---|---|---|---|
100590850 | NOMLE25830 | ||
114601886 | PODMU30865 | ||
107572072 | SINGR22520 | ||
106822471 | EQUAS16253 | ||
105305742 | PTEVA16019 | ||
115055932 | ECHNA52854 | ||
115391629 | SALFA27624 | ||
113484238 | ATHCN15116 | ||
105823374 | PROCO07322 | ||
855742 | SGD:S000005291 |
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Partly supported by NIH Common Fund Grant #1U01GM125267-01
GlyCosmos Portal v4.0.0
Last updated: August 19, 2024