GO Term | Evidence Code | PMID |
---|---|---|
positive regulation of autophagy | ||
positive regulation of mitochondrial fission | ||
positive regulation of transcription by RNA polymerase II | ||
negative regulation of vascular endothelial growth factor signaling pathway | ||
animal organ morphogenesis |
|
GO Term | Evidence Code | PMID |
---|---|---|
extracellular region | ||
Golgi lumen |
|
|
collagen-containing extracellular matrix | ||
extracellular space | ||
lysosomal lumen |
|
GO Term | Evidence Code | PMID |
---|---|---|
extracellular matrix structural constituent conferring compression resistance | ||
extracellular matrix binding | ||
protein binding | ||
glycosaminoglycan binding | ||
RNA binding |
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
DO ID | Disease Name | Source |
---|---|---|
DOID:0060584 | Noonan syndrome 6 | |
DOID:0060585 | Noonan syndrome 7 | |
DOID:0060586 | Noonan syndrome 8 | |
DOID:0060587 | Noonan syndrome 9 | |
DOID:0060588 | Noonan syndrome 10 | |
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:0060762 | restrictive dermopathy |
HPO ID | HPO Term |
---|---|
HP:0000006 | Autosomal dominant inheritance |
HP:0000486 | Strabismus |
HP:0000501 | Glaucoma |
HP:0000529 | Progressive visual loss |
HP:0000613 | Photophobia |
HP:0001131 | Corneal dystrophy |
HP:0003623 | Neonatal onset |
HP:0007709 | Band-shaped corneal dystrophy |
HP:0011487 | Increased corneal thickness |
HP:0200020 | Corneal erosion |
Disease ID | Disease Name |
---|---|
OMIM:610048 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
103179836 | CALMI18841 | ||
102354622 | LATCH07758 | ||
64698 | ZFIN:ZDB-GENE-010102-1 | DANRE33075 | |
108279747 | ICTPU12982 | ||
113584581 | ELEEL33189 | ||
100136494 | SALSA136736 | ||
100380277 | SALSA53749 | ||
115179983 | SALTR55161 | ||
115199091 | SALTR65094 | ||
101170066 | ORYLA11117 |
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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