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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 |
|---|---|---|---|---|---|
| C0001125 | Acidosis, Lactic | SDHA | 6389 | succinate dehydrogenase complex flavoprotein subunit A | P31040 |
| C0001125 | Acidosis, Lactic | SUCLG1 | 8802 | succinate-CoA ligase GDP/ADP-forming subunit alpha | P53597 |
| C0001122 | Acidosis | CYP27B1 | 1594 | cytochrome P450 family 27 subfamily B member 1 | O15528 |
| C0001122 | Acidosis | HSD3B2 | 3284 | hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 | P26439 |
| C0001122 | Acidosis | SLC2A2 | 6514 | solute carrier family 2 member 2 | P11168 |
| C0001122 | Acidosis | CYP11A1 | 1583 | cytochrome P450 family 11 subfamily A member 1 | P05108 |
| C0001122 | Acidosis | AMT | 275 | aminomethyltransferase | P48728 |
| C0001080 | Achondroplasia | DCN | 1634 | decorin | P07585 |
| C0001080 | Achondroplasia | ACAN | 176 | aggrecan | P16112 |
| C0001080 | Achondroplasia | CYP2C19 | 1557 | cytochrome P450 family 2 subfamily C member 19 | P33261 |
| C0001079 | Achondrogenesis | SLC26A2 | 1836 | solute carrier family 26 member 2 | P50443 |
| C0000889 | Acanthosis Nigricans | AGPAT2 | 10555 | 1-acylglycerol-3-phosphate O-acyltransferase 2 | O15120 |
| C0000889 | Acanthosis Nigricans | PNPLA2 | 57104 | patatin like phospholipase domain containing 2 | Q96AD5 |
| C0000889 | Acanthosis Nigricans | ELOVL1 | 64834 | ELOVL fatty acid elongase 1 | Q9BW60 |
| C0000889 | Acanthosis Nigricans | CYP19A1 | 1588 | cytochrome P450 family 19 subfamily A member 1 | P11511 |
| C0000768 | Congenital Abnormality | CHST14 | 113189 | carbohydrate sulfotransferase 14 | Q8NCH0 |
| C0000768 | Congenital Abnormality | POMT1 | 10585 | protein O-mannosyltransferase 1 | Q9Y6A1 |
| C0000768 | Congenital Abnormality | EXT2 | 2132 | exostosin glycosyltransferase 2 | Q93063 |
| C0000768 | Congenital Abnormality | PIGN | 23556 | phosphatidylinositol glycan anchor biosynthesis class N | O95427 |
| C0000768 | Congenital Abnormality | FUT2 | 2524 | fucosyltransferase 2 | Q10981 |
| C0000768 | Congenital Abnormality | SLC35A3 | 23443 | solute carrier family 35 member A3 | Q9Y2D2 |
| C0000768 | Congenital Abnormality | B3GAT3 | 26229 | beta-1,3-glucuronyltransferase 3 | O94766 |
| C0000768 | Congenital Abnormality | POMT2 | 29954 | protein O-mannosyltransferase 2 | Q9UKY4 |
| C0000768 | Congenital Abnormality | ABO | 28 | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | P16442 |
| C0000768 | Congenital Abnormality | LFNG | 3955 | LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase | Q8NES3 |
