GO Term | Evidence Code | PMID |
---|---|---|
secretory granule localization | ||
immune response |
|
|
positive regulation of cytokine production |
|
|
T cell activation |
|
|
cellular response to cAMP |
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 |
---|---|---|---|
115180047 | SALTR55207 | ||
115198746 | SALTR65231 | ||
115542827 | GADMO46053 | ||
101173828 | ORYLA10866 | ||
100697462 | ORENI23913 | ||
108711184 | Xenbase:XB-GENE-17340298 | ||
108713077 | Xenbase:XB-GENE-6487000 | ||
100158519 | Xenbase:XB-GENE-1011009 | ||
101948128 | CHRPI21551 | ||
109315724 | CROPO05404 |
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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