GO Term | Evidence Code | PMID |
---|---|---|
phosphatidylinositol-mediated signaling | ||
endocytosis | ||
platelet-derived growth factor receptor signaling pathway |
|
|
insulin receptor signaling pathway |
|
|
epidermal growth factor receptor signaling pathway |
|
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: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 |
---|---|---|---|
107567881 | SINGR93447 | ||
111580508 | AMPOC28494 | ||
106835478 | EQUAS11894 | ||
116835939 | CHEAB09890 | ||
109530836 | HIPCM14736 | ||
105304234 | PTEVA16589 | ||
115055930 | ECHNA54868 | ||
115392098 | SALFA27511 | ||
113481213 | ATHCN18353 | ||
103379820 | CYNSE25123 |
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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