GO Term | Evidence Code | PMID |
---|---|---|
phospholipase C-activating G protein-coupled receptor signaling pathway | ||
phosphorylation | ||
negative regulation of triglyceride catabolic process | ||
dendritic cell chemotaxis |
|
|
phosphatidylinositol 3-kinase/protein kinase B signal transduction |
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:0050572 | cone-rod dystrophy | |
DOID:0050589 | inflammatory bowel disease | |
DOID:0050590 | severe congenital neutropenia | |
DOID:0050635 | alternating hemiplegia of childhood | |
DOID:0050646 | distal arthrogryposis | |
DOID:0050651 | atrioventricular septal defect | |
DOID:0050657 | Bannayan-Riley-Ruvalcaba syndrome | |
DOID:10126 | keratoconus | |
DOID:0050700 | cardiomyopathy | |
DOID:0050709 | early infantile epileptic encephalopathy |
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 |
---|---|---|---|
114025261 | VOMUR06075 | ||
100950470 | OTOGA17825 | ||
101071229 | TAKRU18783 | ||
102028939 | CHILA02827 | ||
105720275 | AOTNA21031 | ||
110207004 | PHACI05645 | ||
101028650 | SAIBB02248 | ||
101955252 | ICTTR12167 | ||
102439715 | MYOLU02841 | ||
117012427 | RHIFE26840 |
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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