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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 |
|---|---|---|---|---|---|
| C0271683 | Polyneuropathy, Motor | CHAT | 1103 | choline O-acetyltransferase | P28329 |
| C0271683 | Polyneuropathy, Motor | AGRN | 375790 | agrin | O00468 |
| C0271683 | Polyneuropathy, Motor | SCP2 | 6342 | sterol carrier protein 2 | P22307 |
| C0271686 | Diabetic Autonomic Neuropathy | CAT | 847 | catalase | P04040 |
| C0271694 | Familial partial lipodystrophy | AGL | 178 | amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase | P35573 |
| C0271694 | Familial partial lipodystrophy | AGPAT2 | 10555 | 1-acylglycerol-3-phosphate O-acyltransferase 2 | O15120 |
| C0271694 | Familial partial lipodystrophy | LPL | 4023 | lipoprotein lipase | P06858 |
| C0271708 | Fasting Hypoglycemia | IDS | 3423 | iduronate 2-sulfatase | P22304 |
| C0271708 | Fasting Hypoglycemia | FBP1 | 2203 | fructose-bisphosphatase 1 | P09467 |
| C0271708 | Fasting Hypoglycemia | GYS2 | 2998 | glycogen synthase 2 | P54840 |
| C0271708 | Fasting Hypoglycemia | SLC37A4 | 2542 | solute carrier family 37 member 4 | O43826 |
| C0271708 | Fasting Hypoglycemia | SLC2A2 | 6514 | solute carrier family 2 member 2 | P11168 |
| C0271708 | Fasting Hypoglycemia | G6PC | 2538 | glucose-6-phosphatase catalytic subunit | P35575 |
| C0271708 | Fasting Hypoglycemia | PCK1 | 5105 | phosphoenolpyruvate carboxykinase 1 | P35558 |
| C0271710 | Reactive hypoglycemia | ALDOB | 229 | aldolase, fructose-bisphosphate B | P05062 |
| C0271737 | Addison's disease due to autoimmunity | CYP27B1 | 1594 | cytochrome P450 family 27 subfamily B member 1 | O15528 |
| C0271737 | Addison's disease due to autoimmunity | MICA | 100507436 | MHC class I polypeptide-related sequence A | Q29983 |
| C0271737 | Addison's disease due to autoimmunity | CYP2B6 | 1555 | cytochrome P450 family 2 subfamily B member 6 | P20813 |
| C0271737 | Addison's disease due to autoimmunity | CYP21A2 | 1589 | cytochrome P450 family 21 subfamily A member 2 | P08686 |
| C0271742 | Glucocorticoid deficiency with achalasia | GMPPA | 29926 | GDP-mannose pyrophosphorylase A | Q96IJ6 |
| C0271742 | Glucocorticoid deficiency with achalasia | SGPL1 | 8879 | sphingosine-1-phosphate lyase 1 | O95470 |
| C0271829 | Pendred's syndrome | SLC26A2 | 1836 | solute carrier family 26 member 2 | P50443 |
| C0271829 | Pendred's syndrome | ALDH7A1 | 501 | aldehyde dehydrogenase 7 family member A1 | P49419 |
| C0271829 | Pendred's syndrome | PTGDS | 5730 | prostaglandin D2 synthase | P41222 |
| C0271844 | Parathyroid hyperplasia | KL | 9365 | klotho | Q9UEF7 |
