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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 |
|---|---|---|---|---|---|
| C2931196 | Craniofacial dysostosis type 1 | GPC3 | 2719 | glypican 3 | P51654 |
| C2931196 | Craniofacial dysostosis type 1 | TKTL1 | 8277 | transketolase like 1 | P51854 |
| C2931205 | Usher syndrome, type 1A | ALDH7A1 | 501 | aldehyde dehydrogenase 7 family member A1 | P49419 |
| C2931258 | Amaurosis congenita of Leber, type 1 | FUT4 | 2526 | fucosyltransferase 4 | P22083 |
| C2931258 | Amaurosis congenita of Leber, type 1 | RPE | 6120 | ribulose-5-phosphate-3-epimerase | Q96AT9 |
| C2931258 | Amaurosis congenita of Leber, type 1 | NYX | 60506 | nyctalopin | Q9GZU5 |
| C2931258 | Amaurosis congenita of Leber, type 1 | SORD | 6652 | sorbitol dehydrogenase | Q00796 |
| C2931258 | Amaurosis congenita of Leber, type 1 | CYP3A4 | 1576 | cytochrome P450 family 3 subfamily A member 4 | P08684 |
| C2931258 | Amaurosis congenita of Leber, type 1 | PCYT1B | 9468 | phosphate cytidylyltransferase 1, choline, beta | Q9Y5K3 |
| C2931356 | Spastic paraplegia type 5A, recessive | PLA2G6 | 8398 | phospholipase A2 group VI | O60733 |
| C2931356 | Spastic paraplegia type 5A, recessive | CYP7B1 | 9420 | cytochrome P450 family 7 subfamily B member 1 | O75881 |
| C2931384 | Moyamoya disease 1 | SMPDL3B | 27293 | sphingomyelin phosphodiesterase acid like 3B | Q92485 |
| C2931404 | Albright's hereditary osteodystrophy | ASAH1 | 427 | N-acylsphingosine amidohydrolase 1 | Q13510 |
| C2931404 | Albright's hereditary osteodystrophy | GPC1 | 2817 | glypican 1 | P35052 |
| C2931456 | Prostate cancer, familial | B3GAT1 | 27087 | beta-1,3-glucuronyltransferase 1 | Q9P2W7 |
| C2931456 | Prostate cancer, familial | LGALS8 | 3964 | galectin 8 | O00214 |
| C2931456 | Prostate cancer, familial | CYP17A1 | 1586 | cytochrome P450 family 17 subfamily A member 1 | P05093 |
| C2931456 | Prostate cancer, familial | CYP1A1 | 1543 | cytochrome P450 family 1 subfamily A member 1 | P04798 |
| C2931456 | Prostate cancer, familial | CYP1B1 | 1545 | cytochrome P450 family 1 subfamily B member 1 | Q16678 |
| C2931456 | Prostate cancer, familial | CYP19A1 | 1588 | cytochrome P450 family 19 subfamily A member 1 | P11511 |
| C2931456 | Prostate cancer, familial | AMACR | 23600 | alpha-methylacyl-CoA racemase | Q9UHK6 |
| C2931456 | Prostate cancer, familial | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C2931456 | Prostate cancer, familial | SRD5A2 | 6716 | steroid 5 alpha-reductase 2 | P31213 |
| C2931498 | Mental Retardation, X-Linked 1 | ALG13 | 79868 | ALG13 UDP-N-acetylglucosaminyltransferase subunit | Q9NP73 |
| C2931498 | Mental Retardation, X-Linked 1 | IL1RAPL1 | 11141 | interleukin 1 receptor accessory protein like 1 | Q9NZN1 |
