Gene ID | Gene Symbol | Description | Source |
---|---|---|---|
142 | PARP1 | poly(ADP-ribose) polymerase 1 | |
523 | ATP6V1A | ATPase H+ transporting V1 subunit A | |
537 | ATP6AP1 | ATPase H+ transporting accessory protein 1 | |
847 | CAT | catalase | |
1634 | DCN | decorin | |
1717 | DHCR7 | 7-dehydrocholesterol reductase | |
1892 | ECHS1 | enoyl-CoA hydratase, short chain 1 | |
5336 | PLCG2 | phospholipase C gamma 2 | |
5373 | PMM2 | phosphomannomutase 2 | |
9469 | CHST3 | carbohydrate sulfotransferase 3 |
HPO ID | HPO Term |
---|---|
HP:0002126 | Polymicrogyria |
HP:0002187 | Intellectual disability, profound |
HP:0002208 | Coarse hair |
HP:0002361 | Psychomotor deterioration |
HP:0002465 | Poor speech |
HP:0002761 | Generalized joint hypermobility |
HP:0003160 | Abnormal isoelectric focusing of serum transferrin |
HP:0003196 | Short nose |
HP:0003199 | Decreased muscle mass |
HP:0004322 | Short stature |
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