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:0110289 | autosomal recessive limb-girdle muscular dystrophy type 2Y | |
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:5854 | silent myocardial infarction | |
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 |
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 |
---|---|---|---|
105818390 | PROCO03915 | ||
116445139 | CORMO22937 | ||
103269762 | CARSF06221 |
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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