UniProt | Protein Name |
---|---|
O95528 |
|
GO Term | Evidence Code | PMID |
---|---|---|
dehydroascorbic acid transport | ||
glucose transmembrane transport | ||
galactose transmembrane transport |
|
|
embryonic skeletal joint development | ||
cell redox homeostasis |
GO Term | Evidence Code | PMID |
---|---|---|
carbohydrate:proton symporter activity |
|
|
symporter activity | ||
D-glucose transmembrane transporter activity | ||
dehydroascorbic acid transmembrane transporter activity |
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
DO ID | Disease Name | Source |
---|---|---|
DOID:0110453 | dilated cardiomyopathy 1EE | |
DOID:0110454 | dilated cardiomyopathy 1S | |
DOID:0110455 | dilated cardiomyopathy 1U | |
DOID:0110456 | dilated cardiomyopathy 1R | |
DOID:0110457 | dilated cardiomyopathy 1Y | |
DOID:0110458 | dilated cardiomyopathy 1BB | |
DOID:0110459 | dilated cardiomyopathy 1FF | |
DOID:0110460 | dilated cardiomyopathy 2A | |
DOID:0110461 | X-linked dilated cardiomyopathy | |
DOID:0110910 | leukocyte adhesion deficiency 1 |
HPO ID | HPO Term |
---|---|
HP:0001249 | Intellectual disability |
HP:0001252 | Hypotonia |
HP:0001263 | Global developmental delay |
HP:0001290 | Generalized hypotonia |
HP:0001328 | Specific learning disability |
HP:0001363 | Craniosynostosis |
HP:0001371 | Flexion contracture |
HP:0001382 | Joint hypermobility |
HP:0001385 | Hip dysplasia |
HP:0001537 | Umbilical hernia |
Disease ID | Disease Name |
---|---|
OMIM:208050 |
|
ORPHA:3342 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
716558 | MACMU02042 | ||
105496485 | MACNE14190 | ||
101026949 | PAPAN12883 | ||
105542281 | MANLE23194 | ||
101131480 | GORGO22074 | ||
100978426 | PANPA22482 | ||
469963 | PANTR25055 | ||
100445476 | PONAB20878 | ||
485911 | CANLF09627 | ||
112931897 | VULVU27512 |
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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