GO Term | Evidence Code | PMID |
---|---|---|
2-oxoglutarate metabolic process | ||
glyoxylate cycle | ||
carbohydrate metabolic process | ||
isocitrate metabolic process | ||
NADP metabolic process |
GO Term | Evidence Code | PMID |
---|---|---|
cytosol | ||
peroxisome | ||
mitochondrial matrix | ||
mitochondrion | ||
extracellular exosome |
GO Term | Evidence Code | PMID |
---|---|---|
magnesium ion binding | ||
NAD binding | ||
isocitrate dehydrogenase (NADP+) activity |
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
DO ID | Disease Name | Source |
---|---|---|
DOID:0110279 | autosomal recessive limb-girdle muscular dystrophy type 2E | |
DOID:0110280 | autosomal recessive limb-girdle muscular dystrophy type 2F | |
DOID:0110281 | autosomal recessive limb-girdle muscular dystrophy type 2G | |
DOID:0110282 | autosomal recessive limb-girdle muscular dystrophy type 2H | |
DOID:0110283 | autosomal recessive limb-girdle muscular dystrophy type 2J | |
DOID:0110284 | autosomal recessive limb-girdle muscular dystrophy type 2L | |
DOID:0110285 | autosomal recessive limb-girdle muscular dystrophy type 2Q | |
DOID:0110286 | obsolete autosomal recessive limb-girdle muscular dystrophy type 2R | |
DOID:0110287 | autosomal recessive limb-girdle muscular dystrophy type 2S | |
DOID:0110289 | autosomal recessive limb-girdle muscular dystrophy type 2Y |
HPO ID | HPO Term |
---|---|
HP:0000006 | Autosomal dominant inheritance |
HP:0000826 | Precocious puberty |
HP:0000853 | Goiter |
HP:0000926 | Platyspondyly |
HP:0000944 | Abnormal metaphysis morphology |
HP:0001028 | Hemangioma |
HP:0001250 | Seizure |
HP:0001252 | Hypotonia |
HP:0001263 | Global developmental delay |
HP:0001387 | Joint stiffness |
Disease ID | Disease Name |
---|---|
OMIM:613657 |
|
ORPHA:163634 |
|
ORPHA:296 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
850871 | SGD:S000004164 | ||
855723 | SGD:S000004954 | ||
109063929 | CYPCA67914 | ||
103749898 | NANGA09411 | ||
103267583 | CARSF30160 | ||
115612947 | STRHB22926 |
GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.
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