GO Term | Evidence Code | PMID |
---|---|---|
T cell proliferation |
|
|
platelet aggregation |
|
|
regulation of calcium ion transmembrane transport | ||
phosphatidylinositol-3-phosphate biosynthetic process | ||
respiratory burst involved in defense response |
|
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:0060586 | Noonan syndrome 8 | |
DOID:0060587 | Noonan syndrome 9 | |
DOID:0060588 | Noonan syndrome 10 | |
DOID:0060592 | B-cell adult acute lymphocytic leukemia | |
DOID:0060597 | atypical chronic myeloid leukemia, BCR-ABL1 negative | |
DOID:0060608 | microcephalic osteodysplastic primordial dwarfism type I | |
DOID:0060609 | microcephalic osteodysplastic primordial dwarfism type II | |
DOID:0060642 | recessive dystrophic epidermolysis bullosa | |
DOID:0060644 | chondrodysplasia-pseudohermaphroditism syndrome | |
DOID:0060707 | lymphoproliferative syndrome 1 |
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 |
---|---|---|---|
113436774 | PSETE01002 | ||
103813517 | SERCA06309 | ||
100078046 | ORNAN05315 | ||
100925455 | SARHA13743 | ||
103118136 | ERIEU07700 | ||
100394268 | CALJA43660 | ||
105583147 | CERAT13725 | ||
698857 | MACMU32743 | ||
105475319 | MACNE00055 | ||
101018542 | PAPAN30844 |
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Partly supported by NIH Common Fund Grant #1U01GM125267-01
GlyCosmos Portal v4.0.0
Last updated: August 19, 2024