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:0110292 | autosomal recessive limb-girdle muscular dystrophy type 2O | |
DOID:0110293 | autosomal recessive limb-girdle muscular dystrophy type 2P | |
DOID:0110294 | autosomal recessive limb-girdle muscular dystrophy type 2T | |
DOID:0110295 | autosomal recessive limb-girdle muscular dystrophy type 2U | |
DOID:0110296 | autosomal recessive limb-girdle muscular dystrophy type 2M | |
DOID:0110297 | autosomal recessive limb-girdle muscular dystrophy type 2K | |
DOID:0110298 | autosomal recessive limb-girdle muscular dystrophy type 2N | |
DOID:0110299 | autosomal recessive limb-girdle muscular dystrophy type 2I | |
DOID:0110300 | obsolete autosomal dominant limb-girdle muscular dystrophy type 1A | |
DOID:0110301 | obsolete autosomal dominant limb-girdle muscular dystrophy type 1B |
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