GO Term | Evidence Code | PMID |
---|---|---|
glycosphingolipid catabolic process | ||
response to Thyroglobulin triiodothyronine | ||
carbohydrate metabolic process | ||
response to cortisone | ||
galactose catabolic process |
GO Term | Evidence Code | PMID |
---|---|---|
intracellular membrane-bounded organelle | ||
extracellular region | ||
cytoplasm | ||
vacuole | ||
Golgi apparatus |
GO Term | Evidence Code | PMID |
---|---|---|
protein homodimerization activity | ||
galactoside binding | ||
beta-galactosidase activity | ||
protein 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:0060644 | chondrodysplasia-pseudohermaphroditism syndrome | |
DOID:0060764 | autosomal recessive Robinow syndrome | |
DOID:0060765 | autosomal dominant Robinow syndrome 2 |
HPO ID | HPO Term |
---|---|
HP:0000939 | Osteoporosis |
HP:0000943 | Dysostosis multiplex |
HP:0000998 | Hypertrichosis |
HP:0001007 | Hirsutism |
HP:0001071 | Angiokeratoma corporis diffusum |
HP:0001072 | Thickened skin |
HP:0001223 | Pointed proximal second through fifth metacarpals |
HP:0001230 | Broad metacarpals |
HP:0001249 | Intellectual disability |
HP:0001250 | Seizure |
Disease ID | Disease Name |
---|---|
ORPHA:79255 |
|
OMIM:230600 |
|
OMIM:230500 |
|
OMIM:230650 |
|
OMIM:253010 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
115390022 | SALFA19641 | ||
115390023 | SALFA18902 | ||
113476839 | ATHCN00824 | ||
103734471 | NANGA18460 | ||
103272685 | CARSF02479 | ||
115619925 | STRHB16042 |
GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.
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