Gene ID | Gene Symbol | Description | Source |
---|---|---|---|
412 | STS | steroid sulfatase | |
523 | ATP6V1A | ATPase H+ transporting V1 subunit A | |
1605 | DAG1 | dystroglycan 1 | |
1718 | DHCR24 | 24-dehydrocholesterol reductase | |
1743 | DLST | dihydrolipoamide S-succinyltransferase | |
2218 | FKTN | fukutin | |
3339 | HSPG2 | heparan sulfate proteoglycan 2 | |
5048 | PAFAH1B1 | platelet activating factor acetylhydrolase 1b regulatory subunit 1 | |
6383 | SDC2 | syndecan 2 | |
9091 | PIGQ | phosphatidylinositol glycan anchor biosynthesis class Q |
HPO ID | HPO Term |
---|---|
HP:0001249 | Intellectual disability |
HP:0006955 | Olivopontocerebellar hypoplasia |
HP:0000252 | Microcephaly |
HP:0002060 | Abnormal cerebral morphology |
HP:0000133 | Gonadal dysgenesis |
HP:0001263 | Global developmental delay |
HP:0002500 | Abnormal cerebral white matter morphology |
HP:0000431 | Wide nasal bridge |
HP:0000054 | Micropenis |
HP:0001336 | Myoclonus |
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