Gene ID | Gene Symbol | Description | Source |
---|---|---|---|
2539 | G6PD | glucose-6-phosphate dehydrogenase | |
3251 | HPRT1 | hypoxanthine phosphoribosyltransferase 1 | |
3632 | INPP5A | inositol polyphosphate-5-phosphatase A | |
3635 | INPP5D | inositol polyphosphate-5-phosphatase D | |
4534 | MTM1 | myotubularin 1 | |
4669 | NAGLU | N-acetyl-alpha-glucosaminidase | |
4952 | OCRL | OCRL inositol polyphosphate-5-phosphatase | |
5048 | PAFAH1B1 | platelet activating factor acetylhydrolase 1b regulatory subunit 1 | |
5728 | PTEN | phosphatase and tensin homolog | |
51763 | INPP5K | inositol polyphosphate-5-phosphatase K |
HPO ID | HPO Term |
---|---|
HP:0000944 | Abnormal metaphysis morphology |
HP:0000987 | Atypical scarring of skin |
HP:0001249 | Intellectual disability |
HP:0001250 | Seizure |
HP:0001284 | Areflexia |
HP:0001319 | Neonatal hypotonia |
HP:0001369 | Arthritis |
HP:0001382 | Joint hypermobility |
HP:0001386 | Joint swelling |
HP:0001387 | Joint stiffness |
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