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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 |
|---|---|---|---|---|---|
| C0000768 | Congenital Abnormality | PSAP | 5660 | prosaposin | P07602 |
| C0000768 | Congenital Abnormality | TMEM165 | 55858 | transmembrane protein 165 | Q9HC07 |
| C0000768 | Congenital Abnormality | PMM2 | 5373 | phosphomannomutase 2 | O15305 |
| C0000768 | Congenital Abnormality | PAPSS2 | 9060 | 3'-phosphoadenosine 5'-phosphosulfate synthase 2 | O95340 |
| C0000768 | Congenital Abnormality | SRD5A3 | 79644 | steroid 5 alpha-reductase 3 | Q9H8P0 |
| C0000768 | Congenital Abnormality | IL1RAPL1 | 11141 | interleukin 1 receptor accessory protein like 1 | Q9NZN1 |
| C0000768 | Congenital Abnormality | FBP1 | 2203 | fructose-bisphosphatase 1 | P09467 |
| C0000768 | Congenital Abnormality | HPRT1 | 3251 | hypoxanthine phosphoribosyltransferase 1 | P00492 |
| C0000768 | Congenital Abnormality | IDH1 | 3417 | isocitrate dehydrogenase (NADP(+)) 1 | O75874 |
| C0000768 | Congenital Abnormality | SIRT6 | 51548 | sirtuin 6 | Q8N6T7 |
| C0000768 | Congenital Abnormality | ENOSF1 | 55556 | enolase superfamily member 1 | Q7L5Y1 |
| C0000768 | Congenital Abnormality | G6PC3 | 92579 | glucose-6-phosphatase catalytic subunit 3 | Q9BUM1 |
| C0000768 | Congenital Abnormality | SMC3 | 9126 | structural maintenance of chromosomes 3 | Q9UQE7 |
| C0000768 | Congenital Abnormality | PGAP3 | 93210 | post-GPI attachment to proteins phospholipase 3 | Q96FM1 |
| C0000768 | Congenital Abnormality | FIG4 | 9896 | FIG4 phosphoinositide 5-phosphatase | Q92562 |
| C0000768 | Congenital Abnormality | CEACAM5 | 1048 | CEA cell adhesion molecule 5 | P06731 |
| C0000768 | Congenital Abnormality | CHAT | 1103 | choline O-acetyltransferase | P28329 |
| C0000768 | Congenital Abnormality | DGKK | 139189 | diacylglycerol kinase kappa | Q5KSL6 |
| C0000768 | Congenital Abnormality | ADH1B | 125 | alcohol dehydrogenase 1B (class I), beta polypeptide | P00325 |
| C0000768 | Congenital Abnormality | ADH1C | 126 | alcohol dehydrogenase 1C (class I), gamma polypeptide | P00326 |
| C0000768 | Congenital Abnormality | CYP1A2 | 1544 | cytochrome P450 family 1 subfamily A member 2 | P05177 |
| C0000768 | Congenital Abnormality | CYP17A1 | 1586 | cytochrome P450 family 17 subfamily A member 1 | P05093 |
| C0000768 | Congenital Abnormality | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C0000768 | Congenital Abnormality | DHCR7 | 1717 | 7-dehydrocholesterol reductase | Q9UBM7 |
| C0000768 | Congenital Abnormality | ACAN | 176 | aggrecan | P16112 |
