Gene ID | Gene Symbol | Description | Source |
---|---|---|---|
4051 | CYP4F3 | cytochrome P450 family 4 subfamily F member 3 | |
4245 | MGAT1 | alpha-1,3-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase | |
4534 | MTM1 | myotubularin 1 | |
4706 | NDUFAB1 | NADH:ubiquinone oxidoreductase subunit AB1 | |
5211 | PFKL | phosphofructokinase, liver type | |
5213 | PFKM | phosphofructokinase, muscle | |
5224 | PGAM2 | phosphoglycerate mutase 2 | |
5230 | PGK1 | phosphoglycerate kinase 1 | |
5236 | PGM1 | phosphoglucomutase 1 | |
5836 | PYGL | glycogen phosphorylase L |
Gene ID | Gene Symbol | Description | Source |
---|---|---|---|
852602 | MAL32 | alpha-glucosidase MAL32 | |
853204 | IMA1 | oligo-1,6-glucosidase IMA1 | |
853209 | MAL12 | alpha-glucosidase MAL12 | |
853214 | IMA5 | oligo-1,6-glucosidase IMA5 | |
853235 | IMA4 | oligo-1,6-glucosidase IMA4 | |
854008 | IMA2 | oligo-1,6-glucosidase IMA2 | |
854635 | IMA3 | oligo-1,6-glucosidase IMA3 |
HPO ID | HPO Term |
---|---|
HP:0000083 | Renal insufficiency |
HP:0003297 | Hyperlysinuria |
HP:0000007 | Autosomal recessive inheritance |
HP:0003131 | Cystinuria |
HP:0000006 | Autosomal dominant inheritance |
HP:0003268 | Argininuria |
HP:0000010 | Recurrent urinary tract infections |
HP:0003532 | Ornithinuria |
HP:0000787 | Nephrolithiasis |
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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