Gene ID | Gene Symbol | Description | Source |
---|---|---|---|
1555 | CYP2B6 | cytochrome P450 family 2 subfamily B member 6 | |
1576 | CYP3A4 | cytochrome P450 family 3 subfamily A member 4 | |
1593 | CYP27A1 | cytochrome P450 family 27 subfamily A member 1 | |
1594 | CYP27B1 | cytochrome P450 family 27 subfamily B member 1 | |
3290 | HSD11B1 | hydroxysteroid 11-beta dehydrogenase 1 | |
3291 | HSD11B2 | hydroxysteroid 11-beta dehydrogenase 2 | |
5730 | PTGDS | prostaglandin D2 synthase | |
124872 | B4GALNT2 | beta-1,4-N-acetyl-galactosaminyltransferase 2 (SID blood group) |
UniProt ID | Protein Name | Source |
---|---|---|
P28845 | 11-beta-hydroxysteroid dehydrogenase 1 | |
P41222 | Prostaglandin-H2 D-isomerase | |
Q8NHY0 | Beta-1,4 N-acetylgalactosaminyltransferase 2 |
HPO ID | HPO Term |
---|---|
HP:0001288 | Gait disturbance |
HP:0001300 | Parkinsonism |
HP:0001317 | Abnormal cerebellum morphology |
HP:0001328 | Specific learning disability |
HP:0001332 | Dystonia |
HP:0001347 | Hyperreflexia |
HP:0001761 | Pes cavus |
HP:0002028 | Chronic diarrhea |
HP:0002071 | Abnormality of extrapyramidal motor function |
HP:0002088 | Abnormal lung morphology |
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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