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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 |
|---|---|---|---|---|---|
| C0563625 | Agnosia for Pain | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0001818 | Agoraphobia | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C0001818 | Agoraphobia | GAD1 | 2571 | glutamate decarboxylase 1 | Q99259 |
| C0001824 | Agranulocytosis | ABO | 28 | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | P16442 |
| C0001824 | Agranulocytosis | FCGR3B | 2215 | Fc fragment of IgG receptor IIIb | O75015 |
| C1879312 | Agyria | POMT1 | 10585 | protein O-mannosyltransferase 1 | Q9Y6A1 |
| C1879312 | Agyria | FKTN | 2218 | fukutin | O75072 |
| C1879312 | Agyria | POMT2 | 29954 | protein O-mannosyltransferase 2 | Q9UKY4 |
| C1879312 | Agyria | FKRP | 79147 | fukutin related protein | Q9H9S5 |
| C1879312 | Agyria | LARGE1 | 9215 | LARGE xylosyl- and glucuronyltransferase 1 | O95461 |
| C1879312 | Agyria | TMTC3 | 160418 | transmembrane O-mannosyltransferase targeting cadherins 3 | Q6ZXV5 |
| C1879312 | Agyria | DAG1 | 1605 | dystroglycan 1 | Q14118 |
| C1879312 | Agyria | PAFAH1B1 | 5048 | platelet activating factor acetylhydrolase 1b regulatory subunit 1 | P43034 |
| C1879312 | Agyria | CRPPA | 729920 | CDP-L-ribitol pyrophosphorylase A | A4D126 |
| C0001889 | Akinetic Mutism | PRNP | 5621 | prion protein | P04156 |
| C0001889 | Akinetic Mutism | PRNP | 5621 | prion protein | F7VJQ1 |
| C0085280 | Alagille Syndrome | GGT1 | 2678 | gamma-glutamyltransferase 1 | P19440 |
| C0085280 | Alagille Syndrome | NAAA | 27163 | N-acylethanolamine acid amidase | Q02083 |
| C0001916 | Albinism | IDS | 3423 | iduronate 2-sulfatase | P22304 |
| C0078917 | Albinism, Ocular | STS | 412 | steroid sulfatase | P08842 |
| C0078918 | Albinism, Oculocutaneous | G6PC3 | 92579 | glucose-6-phosphatase catalytic subunit 3 | Q9BUM1 |
| C0078918 | Albinism, Oculocutaneous | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0078918 | Albinism, Oculocutaneous | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C2931404 | Albright's hereditary osteodystrophy | ASAH1 | 427 | N-acylsphingosine amidohydrolase 1 | Q13510 |
| C2931404 | Albright's hereditary osteodystrophy | GPC1 | 2817 | glypican 1 | P35052 |
