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: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: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 |
---|---|---|---|
451052 | PANTR02393 | ||
100457125 | PONAB03680 | ||
485399 | CANLF08572 | ||
112927036 | VULVU21421 | ||
100481616 | AILME06673 | ||
101678954 | MUSPF13740 | ||
101096512 | FELCA25210 | ||
122199276 | PANLE14563 | ||
101339247 | TURTR11307 | ||
118899146 | BALMU08933 |
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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