Gene ID | Gene Symbol | Description | Source |
---|---|---|---|
34 | ACADM | acyl-CoA dehydrogenase medium chain | |
1374 | CPT1A | carnitine palmitoyltransferase 1A | |
1962 | EHHADH | enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase | |
3295 | HSD17B4 | hydroxysteroid 17-beta dehydrogenase 4 | |
5213 | PFKM | phosphofructokinase, muscle | |
5224 | PGAM2 | phosphoglycerate mutase 2 |
UniProt ID | Protein Name | Source |
---|---|---|
P08237 | ATP-dependent 6-phosphofructokinase, muscle type | |
P11310 | Medium-chain specific acyl-CoA dehydrogenase, mitochondrial | |
P50416 | Carnitine O-palmitoyltransferase 1, liver isoform | |
P51659 | Peroxisomal multifunctional enzyme type 2 |
HPO ID | HPO Term |
---|---|
HP:0000007 | Autosomal recessive inheritance |
HP:0000107 | Renal cyst |
HP:0000218 | High palate |
HP:0000239 | Large fontanelles |
HP:0000256 | Macrocephaly |
HP:0000268 | Dolichocephaly |
HP:0000270 | Delayed cranial suture closure |
HP:0000278 | Retrognathia |
HP:0000286 | Epicanthus |
HP:0000316 | Hypertelorism |
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
This work is licensed under Creative Commons Attribution 4.0 International
GlyCosmos Portal v4.0.0
Last updated: August 19, 2024