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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 |
|---|---|---|---|---|---|
| C0268151 | Classical galactosemia | LGALS1 | 3956 | galectin 1 | P09382 |
| C0268151 | Classical galactosemia | GALM | 130589 | galactose mutarotase | Q96C23 |
| C0268151 | Classical galactosemia | GALT | 2592 | galactose-1-phosphate uridylyltransferase | P07902 |
| C0268151 | Classical galactosemia | GALK1 | 2584 | galactokinase 1 | P51570 |
| C0268151 | Classical galactosemia | GALE | 2582 | UDP-galactose-4-epimerase | Q14376 |
| C0268151 | Classical galactosemia | UGP2 | 7360 | UDP-glucose pyrophosphorylase 2 | Q16851 |
| C0268151 | Classical galactosemia | CYP51A1 | 1595 | cytochrome P450 family 51 subfamily A member 1 | Q16850 |
| C0268151 | Classical galactosemia | GP2 | 2813 | glycoprotein 2 | P55259 |
| C0268155 | Deficiency of galactokinase | GALK1 | 2584 | galactokinase 1 | P51570 |
| C0268155 | Deficiency of galactokinase | GALE | 2582 | UDP-galactose-4-epimerase | Q14376 |
| C0268155 | Deficiency of galactokinase | GALT | 2592 | galactose-1-phosphate uridylyltransferase | P07902 |
| C0268155 | Deficiency of galactokinase | GK | 2710 | glycerol kinase | P32189 |
| C0268162 | Pentosuria | DCXR | 51181 | dicarbonyl and L-xylulose reductase | Q7Z4W1 |
| C0268165 | Primary hyperoxaluria type 2 | GLYCTK | 132158 | glycerate kinase | Q8IVS8 |
| C0268165 | Primary hyperoxaluria type 2 | GRHPR | 9380 | glyoxylate and hydroxypyruvate reductase | Q9UBQ7 |
| C0268181 | Lactose Intolerance, Adult Type | GLB1 | 2720 | galactosidase beta 1 | P16278 |
| C0268181 | Lactose Intolerance, Adult Type | LCT | 3938 | lactase | P09848 |
| C0268186 | Congenital glucose-galactose malabsorption | ABO | 28 | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | P16442 |
| C0268186 | Congenital glucose-galactose malabsorption | SLC2A2 | 6514 | solute carrier family 2 member 2 | P11168 |
| C0268186 | Congenital glucose-galactose malabsorption | SLC5A1 | 6523 | solute carrier family 5 member 1 | P13866 |
| C0268186 | Congenital glucose-galactose malabsorption | CD14 | 929 | CD14 molecule | P08571 |
| C0268186 | Congenital glucose-galactose malabsorption | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0268193 | NADH cytochrome B5 reductase deficiency | CYB5R3 | 1727 | cytochrome b5 reductase 3 | P00387 |
| C0268193 | NADH cytochrome B5 reductase deficiency | DLD | 1738 | dihydrolipoamide dehydrogenase | P09622 |
| C0268193 | NADH cytochrome B5 reductase deficiency | LPL | 4023 | lipoprotein lipase | P06858 |
