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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 |
|---|---|---|---|---|---|
| C0001403 | Addison Disease | CYP27B1 | 1594 | cytochrome P450 family 27 subfamily B member 1 | O15528 |
| C0001403 | Addison Disease | GLUL | 2752 | glutamate-ammonia ligase | P15104 |
| C0001403 | Addison Disease | HSD11B1 | 3290 | hydroxysteroid 11-beta dehydrogenase 1 | P28845 |
| C0001403 | Addison Disease | TM7SF2 | 7108 | transmembrane 7 superfamily member 2 | O76062 |
| C0001403 | Addison Disease | SGPL1 | 8879 | sphingosine-1-phosphate lyase 1 | O95470 |
| C0001403 | Addison Disease | CD14 | 929 | CD14 molecule | P08571 |
| C0001403 | Addison Disease | MICA | 100507436 | MHC class I polypeptide-related sequence A | Q29983 |
| C0001403 | Addison Disease | CYP11A1 | 1583 | cytochrome P450 family 11 subfamily A member 1 | P05108 |
| C0001403 | Addison Disease | CYP21A2 | 1589 | cytochrome P450 family 21 subfamily A member 2 | P08686 |
| C0001403 | Addison Disease | CLEC16A | 23274 | C-type lectin domain containing 16A | Q2KHT3 |
| C0001403 | Addison Disease | GAD2 | 2572 | glutamate decarboxylase 2 | Q05329 |
| C0001403 | Addison Disease | HSD17B4 | 3295 | hydroxysteroid 17-beta dehydrogenase 4 | P51659 |
| C4551482 | Adams-Oliver syndrome 1 | EOGT | 285203 | EGF domain specific O-linked N-acetylglucosamine transferase | Q5NDL2 |
| C0265268 | Adams Oliver syndrome | EOGT | 285203 | EGF domain specific O-linked N-acetylglucosamine transferase | Q5NDL2 |
| C0431129 | Adamantinous Craniopharyngioma | CEL | 1056 | carboxyl ester lipase | P19835 |
| C0431129 | Adamantinous Craniopharyngioma | NDUFAB1 | 4706 | NADH:ubiquinone oxidoreductase subunit AB1 | O14561 |
| C0431129 | Adamantinous Craniopharyngioma | CD44 | 960 | CD44 molecule (Indian blood group) | P16070 |
| C0431129 | Adamantinous Craniopharyngioma | CYP2E1 | 1571 | cytochrome P450 family 2 subfamily E member 1 | P05181 |
| C1367554 | Adamantinoma | MOGS | 7841 | mannosyl-oligosaccharide glucosidase | Q13724 |
| C0001363 | Acute vascular insufficiency of intestine (disorder) | PCYT1A | 5130 | phosphate cytidylyltransferase 1, choline, alpha | P49585 |
| C0001361 | Acute tonsillitis | NT5E | 4907 | 5'-nucleotidase ecto | P21589 |
| C0264490 | Acute respiratory failure | ABO | 28 | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | P16442 |
| C0264490 | Acute respiratory failure | PARP1 | 142 | poly(ADP-ribose) polymerase 1 | P09874 |
| C0264490 | Acute respiratory failure | IDH1 | 3417 | isocitrate dehydrogenase (NADP(+)) 1 | O75874 |
| C0264490 | Acute respiratory failure | CYP1A1 | 1543 | cytochrome P450 family 1 subfamily A member 1 | P04798 |
