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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 | PIGT | 51604 | phosphatidylinositol glycan anchor biosynthesis class T | Q969N2 |
| C0000768 | Congenital Abnormality | PIGA | 5277 | phosphatidylinositol glycan anchor biosynthesis class A | P37287 |
| C0000768 | Congenital Abnormality | PIGV | 55650 | phosphatidylinositol glycan anchor biosynthesis class V | Q9NUD9 |
| C0000768 | Congenital Abnormality | ALG9 | 79796 | ALG9 alpha-1,2-mannosyltransferase | Q9H6U8 |
| C0000768 | Congenital Abnormality | PIGO | 84720 | phosphatidylinositol glycan anchor biosynthesis class O | Q8TEQ8 |
| C0000768 | Congenital Abnormality | DOLK | 22845 | dolichol kinase | Q9UPQ8 |
| C0000768 | Congenital Abnormality | IDS | 3423 | iduronate 2-sulfatase | P22304 |
| C0000768 | Congenital Abnormality | LIPA | 3988 | lipase A, lysosomal acid type | P38571 |
| C0000768 | Congenital Abnormality | NEU1 | 4758 | neuraminidase 1 | Q99519 |
| C0000768 | Congenital Abnormality | PGM1 | 5236 | phosphoglucomutase 1 | P36871 |
| 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 |
