Gene ID | Gene Symbol | Description | Source |
---|---|---|---|
231 | AKR1B1 | aldo-keto reductase family 1 member B | |
1595 | CYP51A1 | cytochrome P450 family 51 subfamily A member 1 | |
2539 | G6PD | glucose-6-phosphate dehydrogenase | |
2582 | GALE | UDP-galactose-4-epimerase | |
2584 | GALK1 | galactokinase 1 | |
2592 | GALT | galactose-1-phosphate uridylyltransferase | |
2710 | GK | glycerol kinase | |
2813 | GP2 | glycoprotein 2 | |
3956 | LGALS1 | galectin 1 | |
4245 | MGAT1 | alpha-1,3-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase |
HPO ID | HPO Term |
---|---|
HP:0003124 | Hypercholesterolemia |
HP:0001270 | Motor delay |
HP:0100018 | Nuclear cataract |
HP:0000815 | Hypergonadotropic hypogonadism |
HP:0011968 | Feeding difficulties |
HP:0001622 | Premature birth |
HP:0000407 | Sensorineural hearing impairment |
HP:0008209 | Premature ovarian insufficiency |
HP:0001508 | Failure to thrive |
HP:0012379 | Abnormal circulating enzyme concentration or activity |
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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