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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 |
|---|---|---|---|---|---|
| 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 |
| C2931404 | Albright's hereditary osteodystrophy | ASAH1 | 427 | N-acylsphingosine amidohydrolase 1 | Q13510 |
| C2931404 | Albright's hereditary osteodystrophy | GPC1 | 2817 | glypican 1 | P35052 |
| C2931384 | Moyamoya disease 1 | SMPDL3B | 27293 | sphingomyelin phosphodiesterase acid like 3B | Q92485 |
| 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 |
| 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 |
| C2931205 | Usher syndrome, type 1A | ALDH7A1 | 501 | aldehyde dehydrogenase 7 family member A1 | P49419 |
| C2931196 | Craniofacial dysostosis type 1 | GPC3 | 2719 | glypican 3 | P51654 |
| C2931196 | Craniofacial dysostosis type 1 | TKTL1 | 8277 | transketolase like 1 | P51854 |
| C2931189 | Neural crest tumor | CD44 | 960 | CD44 molecule (Indian blood group) | P16070 |
| C2931187 | Nephropathic cystinosis | CTNS | 1497 | cystinosin, lysosomal cystine transporter | O60931 |
| C2931187 | Nephropathic cystinosis | VNN1 | 8876 | vanin 1 | O95497 |
| C2931187 | Nephropathic cystinosis | VNN2 | 8875 | vanin 2 | O95498 |
| C2931187 | Nephropathic cystinosis | CYP51A1 | 1595 | cytochrome P450 family 51 subfamily A member 1 | Q16850 |
| C2931150 | Synostotic Anterior Plagiocephaly | FREM1 | 158326 | FRAS1 related extracellular matrix 1 | Q5H8C1 |
| C2931132 | Crigler Najjar syndrome, type 2 | UGT1A10 | 54575 | UDP glucuronosyltransferase family 1 member A10 | Q9HAW8 |
