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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 |
|---|---|---|---|---|---|
| C0268262 | Metachromatic Leukodystrophy due to Saposin B Deficiency | PSAP | 5660 | prosaposin | P07602 |
| C0268263 | Multiple Sulfatase Deficiency Disease | SUMF1 | 285362 | sulfatase modifying factor 1 | Q8NBK3 |
| C0268263 | Multiple Sulfatase Deficiency Disease | ARSA | 410 | arylsulfatase A | P15289 |
| C0268263 | Multiple Sulfatase Deficiency Disease | SGSH | 6448 | N-sulfoglucosamine sulfohydrolase | P51688 |
| C0268263 | Multiple Sulfatase Deficiency Disease | ARSH | 347527 | arylsulfatase family member H | Q5FYA8 |
| C0268263 | Multiple Sulfatase Deficiency Disease | STS | 412 | steroid sulfatase | P08842 |
| C0268263 | Multiple Sulfatase Deficiency Disease | CAT | 847 | catalase | P04040 |
| C0268271 | Gangliosidosis, Generalized GM1, Type 1 (disorder) | GLB1 | 2720 | galactosidase beta 1 | P16278 |
| C0268272 | Gangliosidosis, Generalized GM1, Type 2 | GLB1 | 2720 | galactosidase beta 1 | P16278 |
| C0268273 | Gangliosidosis, Generalized GM1, Type 3 | GLB1 | 2720 | galactosidase beta 1 | P16278 |
| C0268274 | Gangliosidoses, GM2 | UGT8 | 7368 | UDP glycosyltransferase 8 | Q16880 |
| C0268274 | Gangliosidoses, GM2 | GM2A | 2760 | GM2 ganglioside activator | P17900 |
| C0268274 | Gangliosidoses, GM2 | GLB1 | 2720 | galactosidase beta 1 | P16278 |
| C0268274 | Gangliosidoses, GM2 | HEXA | 3073 | hexosaminidase subunit alpha | P06865 |
| C0268274 | Gangliosidoses, GM2 | HEXB | 3074 | hexosaminidase subunit beta | P07686 |
| C0268274 | Gangliosidoses, GM2 | OGA | 10724 | O-GlcNAcase | O60502 |
| C0268274 | Gangliosidoses, GM2 | HEXD | 284004 | hexosaminidase D | Q8WVB3 |
| C0268275 | Tay-Sachs Disease, AB Variant | GM2A | 2760 | GM2 ganglioside activator | P17900 |
| C0268275 | Tay-Sachs Disease, AB Variant | HEXB | 3074 | hexosaminidase subunit beta | P07686 |
| C0268275 | Tay-Sachs Disease, AB Variant | HEXA | 3073 | hexosaminidase subunit alpha | P06865 |
| C0268275 | Tay-Sachs Disease, AB Variant | OGA | 10724 | O-GlcNAcase | O60502 |
| C0268281 | Infantile neuronal ceroid lipofuscinosis | PPT1 | 5538 | palmitoyl-protein thioesterase 1 | P50897 |
| C0268281 | Infantile neuronal ceroid lipofuscinosis | SCP2 | 6342 | sterol carrier protein 2 | P22307 |
| C0268285 | Adrenal hyperplasia, congenital, type 5 | CYP17A1 | 1586 | cytochrome P450 family 17 subfamily A member 1 | P05093 |
| C0268285 | Adrenal hyperplasia, congenital, type 5 | CYP2B6 | 1555 | cytochrome P450 family 2 subfamily B member 6 | P20813 |
