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DisGeNET
DisGeNET is a knowledge management platform that integrates and standardizes the data of genes and mutations related to diseases from multiple sources. It covers entire range of human disease.
| Source | Last Updated |
|---|---|
| DisGeNET | July 29, 2024 |
| Disease ID ▲ | Disease Name | Gene Symbol | Gene ID | Gene Name | UniProt ID |
|---|---|---|---|---|---|
| C0268583 | Methylmalonic acidemia | SUCLG1 | 8802 | succinate-CoA ligase GDP/ADP-forming subunit alpha | P53597 |
| C0268594 | Glutaric aciduria | GCDH | 2639 | glutaryl-CoA dehydrogenase | Q92947 |
| C0268594 | Glutaric aciduria | HMGCL | 3155 | 3-hydroxy-3-methylglutaryl-CoA lyase | P35914 |
| C0268595 | Glutaric aciduria, type 1 | GAD1 | 2571 | glutamate decarboxylase 1 | Q99259 |
| C0268595 | Glutaric aciduria, type 1 | GCDH | 2639 | glutaryl-CoA dehydrogenase | Q92947 |
| C0268596 | Multiple Acyl Coenzyme A Dehydrogenase Deficiency | OGA | 10724 | O-GlcNAcase | O60502 |
| C0268596 | Multiple Acyl Coenzyme A Dehydrogenase Deficiency | CPT2 | 1376 | carnitine palmitoyltransferase 2 | P23786 |
| C0268596 | Multiple Acyl Coenzyme A Dehydrogenase Deficiency | APRT | 353 | adenine phosphoribosyltransferase | P07741 |
| C0268596 | Multiple Acyl Coenzyme A Dehydrogenase Deficiency | CPT1A | 1374 | carnitine palmitoyltransferase 1A | P50416 |
| C0268626 | Juvenile nephropathic cystinosis (disorder) | CTNS | 1497 | cystinosin, lysosomal cystine transporter | O60931 |
| C0268631 | succinic semialdehyde dehydrogenase deficiency | ALDH1B1 | 219 | aldehyde dehydrogenase 1 family member B1 | P30837 |
| C0268631 | succinic semialdehyde dehydrogenase deficiency | GPLD1 | 2822 | glycosylphosphatidylinositol specific phospholipase D1 | P80108 |
| C0268631 | succinic semialdehyde dehydrogenase deficiency | ALDH5A1 | 7915 | aldehyde dehydrogenase 5 family member A1 | P51649 |
| C0268634 | Disorder of fatty acid metabolism | ACADM | 34 | acyl-CoA dehydrogenase medium chain | P11310 |
| C0268634 | Disorder of fatty acid metabolism | PFKM | 5213 | phosphofructokinase, muscle | P08237 |
| C0268634 | Disorder of fatty acid metabolism | CPT1A | 1374 | carnitine palmitoyltransferase 1A | P50416 |
| C0268634 | Disorder of fatty acid metabolism | PGAM2 | 5224 | phosphoglycerate mutase 2 | P15259 |
| C0268634 | Disorder of fatty acid metabolism | HSD17B4 | 3295 | hydroxysteroid 17-beta dehydrogenase 4 | P51659 |
| C0268646 | Isolated cystinuria | SLC3A1 | 6519 | solute carrier family 3 member 1 | Q07837 |
| C0268646 | Isolated cystinuria | AGXT | 189 | alanine--glyoxylate and serine--pyruvate aminotransferase | P21549 |
| C0268689 | Vitamin D-dependent rickets, type 1 | CYP2R1 | 120227 | cytochrome P450 family 2 subfamily R member 1 | Q6VVX0 |
| C0268689 | Vitamin D-dependent rickets, type 1 | CYP27B1 | 1594 | cytochrome P450 family 27 subfamily B member 1 | O15528 |
| C0268689 | Vitamin D-dependent rickets, type 1 | CYP27A1 | 1593 | cytochrome P450 family 27 subfamily A member 1 | Q02318 |
| C0268731 | Renal glomerular disease | GLA | 2717 | galactosidase alpha | P06280 |
| C0268731 | Renal glomerular disease | NAGLU | 4669 | N-acetyl-alpha-glucosaminidase | P54802 |
