GO Term | Evidence Code | PMID |
---|---|---|
regulation of angiogenesis | ||
endocytosis | ||
positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction | ||
neutrophil chemotaxis |
|
|
mast cell degranulation |
|
GO Term | Evidence Code | PMID |
---|---|---|
kinase activity | ||
ephrin receptor binding | ||
1-phosphatidylinositol-3-kinase activity | ||
protein serine/threonine kinase activity | ||
protein serine kinase activity |
DO ID | Disease Name | Source |
---|---|---|
DOID:0060708 | lymphoproliferative syndrome 2 | |
DOID:0060764 | autosomal recessive Robinow syndrome | |
DOID:0060765 | autosomal dominant Robinow syndrome 2 | |
DOID:0060766 | autosomal dominant Robinow syndrome 1 | |
DOID:0060767 | autosomal dominant Robinow syndrome 3 | |
DOID:0060782 | EEC syndrome | |
DOID:0060783 | ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 | |
DOID:0060784 | ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1 | |
DOID:0060802 | syndromic X-linked intellectual disability Snyder type | |
DOID:0060891 | Parkinson's disease 19A |
HPO ID | HPO Term |
---|---|
HP:0000007 | Autosomal recessive inheritance |
HP:0000010 | Recurrent urinary tract infections |
HP:0000403 | Recurrent otitis media |
HP:0000964 | Eczematoid dermatitis |
HP:0001252 | Hypotonia |
HP:0001433 | Hepatosplenomegaly |
HP:0001581 | Recurrent skin infections |
HP:0001742 | Nasal congestion |
HP:0001744 | Splenomegaly |
HP:0001873 | Thrombocytopenia |
Disease ID | Disease Name |
---|---|
OMIM:619802 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
100344144 | RABIT11550 | ||
100765862 | CRIGR22060 | ||
30955 | MGI:1353576 | MOUSE08662 | |
298947 | RGD:1306468 | RATNO35374 | |
100725386 | CAVPO14216 | ||
101878571 | MELUD09001 | ||
100009879 | MONDO33590 | ||
102460136 | PELSI02643 | ||
100561444 | ANOCA07474 | ||
103674633 | URSMA10057 |
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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