Gene ID | Gene Symbol | Description | Source |
---|---|---|---|
3425 | IDUA | alpha-L-iduronidase | |
3897 | L1CAM | L1 cell adhesion molecule | |
4534 | MTM1 | myotubularin 1 | |
4907 | NT5E | 5'-nucleotidase ecto | |
4952 | OCRL | OCRL inositol polyphosphate-5-phosphatase | |
4967 | OGDH | oxoglutarate dehydrogenase | |
5048 | PAFAH1B1 | platelet activating factor acetylhydrolase 1b regulatory subunit 1 | |
5160 | PDHA1 | pyruvate dehydrogenase E1 subunit alpha 1 | |
5290 | PIK3CA | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | |
5291 | PIK3CB | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta |
HPO ID | HPO Term |
---|---|
HP:0001274 | Agenesis of corpus callosum |
HP:0000639 | Nystagmus |
HP:0002410 | Aqueductal stenosis |
HP:0000280 | Coarse facial features |
HP:0001360 | Holoprosencephaly |
HP:0004374 | Hemiplegia/hemiparesis |
HP:0001250 | Seizure |
HP:0000238 | Hydrocephalus |
HP:0001331 | Absent septum pellucidum |
HP:0002516 | Increased intracranial pressure |
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