GO Term | Evidence Code | PMID |
---|---|---|
positive regulation of autophagy | ||
membrane organization |
|
|
cell migration | ||
positive regulation of cell migration involved in sprouting angiogenesis | ||
vascular associated smooth muscle contraction |
|
GO Term | Evidence Code | PMID |
---|---|---|
1-phosphatidylinositol-3-kinase activity | ||
1-phosphatidylinositol-4-phosphate 3-kinase activity | ||
phosphatidylinositol binding | ||
1-phosphatidylinositol-4,5-bisphosphate 3-kinase activity | ||
ATP binding |
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
DO ID | Disease Name | Source |
---|---|---|
DOID:0110300 | obsolete autosomal dominant limb-girdle muscular dystrophy type 1A | |
DOID:0110301 | obsolete autosomal dominant limb-girdle muscular dystrophy type 1B | |
DOID:0110302 | obsolete autosomal dominant limb-girdle muscular dystrophy type 1C | |
DOID:0110303 | autosomal dominant limb-girdle muscular dystrophy type 1H | |
DOID:0110304 | autosomal dominant limb-girdle muscular dystrophy type 2 | |
DOID:0110305 | autosomal dominant limb-girdle muscular dystrophy type 1 | |
DOID:0110306 | autosomal dominant limb-girdle muscular dystrophy type 3 | |
DOID:0111078 | tibial muscular dystrophy | |
DOID:10003 | sensorineural hearing loss | |
DOID:1029 | familial periodic paralysis |
HPO ID | HPO Term |
---|---|
HP:0002243 | Protein-losing enteropathy |
HP:0002300 | Mutism |
HP:0002650 | Scoliosis |
HP:0002750 | Delayed skeletal maturation |
HP:0002901 | Hypocalcemia |
HP:0002942 | Thoracic kyphosis |
HP:0002987 | Elbow flexion contracture |
HP:0003072 | Hypercalcemia |
HP:0003090 | Hypoplasia of the capital femoral epiphysis |
HP:0003307 | Hyperlordosis |
Disease ID | Disease Name |
---|---|
OMIM:618440 |
|
ORPHA:557003 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
361632 | RGD:1310389 | RATNO18101 | |
101702206 | HETGA21023 | ||
101881599 | MELUD02192 | ||
102453034 | PELSI09189 | ||
100557407 | ANOCA00472 | ||
107090881 | CYPVA14752 | ||
103679391 | URSMA29104 | ||
114036137 | VOMUR17368 | ||
102535923 | VICPA09100 | ||
101065977 | TAKRU49959 |
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