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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 |
|---|---|---|---|---|---|
| C0342637 | Hypocalciuric hypercalcemia, familial, type 1 | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0342642 | Autosomal dominant hypophosphatemic rickets | GALNT8 | 26290 | polypeptide N-acetylgalactosaminyltransferase 8 | Q9NY28 |
| C0342642 | Autosomal dominant hypophosphatemic rickets | KLB | 152831 | klotho beta | Q86Z14 |
| C0342642 | Autosomal dominant hypophosphatemic rickets | ENPP1 | 5167 | ectonucleotide pyrophosphatase/phosphodiesterase 1 | P22413 |
| C0342643 | Autosomal recessive hypophosphatemic vitamin D refractory rickets | GALNT3 | 2591 | polypeptide N-acetylgalactosaminyltransferase 3 | Q14435 |
| C0342643 | Autosomal recessive hypophosphatemic vitamin D refractory rickets | IDUA | 3425 | alpha-L-iduronidase | P35475 |
| C0342643 | Autosomal recessive hypophosphatemic vitamin D refractory rickets | ENPP1 | 5167 | ectonucleotide pyrophosphatase/phosphodiesterase 1 | P22413 |
| C0342646 | Vitamin D-Dependent Rickets, Type 2A | CYP27B1 | 1594 | cytochrome P450 family 27 subfamily B member 1 | O15528 |
| C0342684 | Ocular albinism, type I | STS | 412 | steroid sulfatase | P08842 |
| C0342701 | Transcobalamin II deficiency | MMUT | 4594 | methylmalonyl-CoA mutase | P22033 |
| C0342708 | Gamma aminobutyric acid transaminase deficiency | ABAT | 18 | 4-aminobutyrate aminotransferase | P80404 |
| C0342731 | Deficiency of mevalonate kinase | FDFT1 | 2222 | farnesyl-diphosphate farnesyltransferase 1 | P37268 |
| C0342749 | GLYCOGEN STORAGE DISEASE Ic | SLC37A4 | 2542 | solute carrier family 37 member 4 | O43826 |
| C0342750 | Glycogen storage disease type Id | SLC2A4 | 6517 | solute carrier family 2 member 4 | P14672 |
| C0342751 | Generalized glycogen storage disease of infants | FUT1 | 2523 | fucosyltransferase 1 (H blood group) | P19526 |
| C0342751 | Generalized glycogen storage disease of infants | GAA | 2548 | glucosidase alpha, acid | P10253 |
| C0342751 | Generalized glycogen storage disease of infants | GALC | 2581 | galactosylceramidase | P54803 |
| C0342751 | Generalized glycogen storage disease of infants | GLA | 2717 | galactosidase alpha | P06280 |
| C0342751 | Generalized glycogen storage disease of infants | IDUA | 3425 | alpha-L-iduronidase | P35475 |
| C0342751 | Generalized glycogen storage disease of infants | IDS | 3423 | iduronate 2-sulfatase | P22304 |
| C0342751 | Generalized glycogen storage disease of infants | ARSB | 411 | arylsulfatase B | P15848 |
| C0342751 | Generalized glycogen storage disease of infants | CPT2 | 1376 | carnitine palmitoyltransferase 2 | P23786 |
| C0342751 | Generalized glycogen storage disease of infants | GBE1 | 2632 | 1,4-alpha-glucan branching enzyme 1 | Q04446 |
| C0342751 | Generalized glycogen storage disease of infants | GYG1 | 2992 | glycogenin 1 | P46976 |
| C0342751 | Generalized glycogen storage disease of infants | IGF2R | 3482 | insulin like growth factor 2 receptor | P11717 |
