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:0060255 | rippling muscle disease 2 | |
DOID:0060597 | atypical chronic myeloid leukemia, BCR-ABL1 negative | |
DOID:0070247 | autosomal dominant Emery-Dreifuss muscular dystrophy 2 | |
DOID:0080092 | myofibrillar myopathy 1 | |
DOID:0080094 | myofibrillar myopathy 3 | |
DOID:0110273 | autosomal dominant limb-girdle muscular dystrophy | |
DOID:0110274 | autosomal recessive limb-girdle muscular dystrophy | |
DOID:0110275 | autosomal recessive limb-girdle muscular dystrophy type 2A | |
DOID:0110276 | autosomal recessive limb-girdle muscular dystrophy type 2B | |
DOID:0110277 | autosomal recessive limb-girdle muscular dystrophy type 2C |
HPO ID | HPO Term |
---|---|
HP:0000365 | Hearing impairment |
HP:0000405 | Conductive hearing impairment |
HP:0000407 | Sensorineural hearing impairment |
HP:0000431 | Wide nasal bridge |
HP:0000501 | Glaucoma |
HP:0000519 | Developmental cataract |
HP:0000599 | Abnormality of the frontal hairline |
HP:0000677 | Oligodontia |
HP:0000691 | Microdontia |
HP:0000766 | Abnormal sternum morphology |
Disease ID | Disease Name |
---|---|
OMIM:618440 |
|
ORPHA:557003 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
103826780 | SERCA04835 | ||
100079037 | ORNAN19277 | ||
100399595 | CALJA03478 | ||
105598902 | CERAT41795 | ||
697202 | MACMU09435 | ||
105486951 | MACNE29426 | ||
101013656 | PAPAN05425 | ||
105548768 | MANLE26572 | ||
101127796 | GORGO03071 | ||
100977462 | PANPA06250 |
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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