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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 |
|---|---|---|---|---|---|
| C0014553 | Absence Epilepsy | CANX | 821 | calnexin | P27824 |
| C0014553 | Absence Epilepsy | ALPI | 248 | alkaline phosphatase, intestinal | P09923 |
| C0014553 | Absence Epilepsy | ALPP | 250 | alkaline phosphatase, placental | P05187 |
| C0014553 | Absence Epilepsy | CACNA2D2 | 9254 | calcium voltage-gated channel auxiliary subunit alpha2delta 2 | Q9NY47 |
| C0014553 | Absence Epilepsy | PDIA3 | 2923 | protein disulfide isomerase family A member 3 | P30101 |
| C0014553 | Absence Epilepsy | PLCB4 | 5332 | phospholipase C beta 4 | Q15147 |
| C1456418 | Absence of muscle | CS | 1431 | citrate synthase | O75390 |
| C1456418 | Absence of muscle | MTM1 | 4534 | myotubularin 1 | Q13496 |
| C0687751 | Acanthocytosis | PIK3C2A | 5286 | phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha | O00443 |
| 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 |
| C2936847 | Acatalasemia Japanese type | CAT | 847 | catalase | P04040 |
| C0268419 | Acatalasia | CAT | 847 | catalase | P04040 |
| C0268419 | Acatalasia | TALDO1 | 6888 | transaldolase 1 | P37837 |
| C0158784 | Accessory skeletal muscle | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C1321756 | Achalasia | FUT3 | 2525 | fucosyltransferase 3 (Lewis blood group) | P21217 |
| C1321756 | Achalasia | AGA | 175 | aspartylglucosaminidase | P20933 |
| C1321756 | Achalasia | ECI1 | 1632 | enoyl-CoA delta isomerase 1 | P42126 |
| C0001079 | Achondrogenesis | SLC26A2 | 1836 | solute carrier family 26 member 2 | P50443 |
| C0265274 | Achondrogenesis, type IB (disorder) | SLC26A2 | 1836 | solute carrier family 26 member 2 | P50443 |
| C0265274 | Achondrogenesis, type IB (disorder) | DCN | 1634 | decorin | P07585 |
| C0001080 | Achondroplasia | DCN | 1634 | decorin | P07585 |
| C0001080 | Achondroplasia | ACAN | 176 | aggrecan | P16112 |
