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:0000007 | Autosomal recessive inheritance |
HP:0000028 | Cryptorchidism |
HP:0000104 | Renal agenesis |
HP:0000121 | Nephrocalcinosis |
HP:0000158 | Macroglossia |
HP:0000164 | Abnormality of the dentition |
HP:0000278 | Retrognathia |
HP:0000280 | Coarse facial features |
HP:0000286 | Epicanthus |
HP:0000294 | Low anterior hairline |
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 |
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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