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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 |
|---|---|---|---|---|---|
| C3808991 | NGLY1 deficiency | ENGASE | 64772 | endo-beta-N-acetylglucosaminidase | Q8NFI3 |
| C0006142 | Malignant neoplasm of breast | ENGASE | 64772 | endo-beta-N-acetylglucosaminidase | Q8NFI3 |
| C0678222 | Breast Carcinoma | ENGASE | 64772 | endo-beta-N-acetylglucosaminidase | Q8NFI3 |
| C0003873 | Rheumatoid Arthritis | ENGASE | 64772 | endo-beta-N-acetylglucosaminidase | Q8NFI3 |
| C0011854 | Diabetes Mellitus, Insulin-Dependent | IPPK | 64768 | inositol-pentakisphosphate 2-kinase | Q9H8X2 |
| C0242383 | Age related macular degeneration | PARP12 | 64761 | poly(ADP-ribose) polymerase family member 12 | Q9H0J9 |
| C0021400 | Influenza | PARP12 | 64761 | poly(ADP-ribose) polymerase family member 12 | Q9H0J9 |
| C0042900 | Vitiligo | PARP12 | 64761 | poly(ADP-ribose) polymerase family member 12 | Q9H0J9 |
| C0276289 | Zika Virus Infection | PARP12 | 64761 | poly(ADP-ribose) polymerase family member 12 | Q9H0J9 |
| C2239176 | Liver carcinoma | PARP12 | 64761 | poly(ADP-ribose) polymerase family member 12 | Q9H0J9 |
| C0027651 | Neoplasms | PARP12 | 64761 | poly(ADP-ribose) polymerase family member 12 | Q9H0J9 |
| C0042769 | Virus Diseases | PARP12 | 64761 | poly(ADP-ribose) polymerase family member 12 | Q9H0J9 |
| C1956346 | Coronary Artery Disease | PARP12 | 64761 | poly(ADP-ribose) polymerase family member 12 | Q9H0J9 |
| C0024523 | Malabsorption Syndrome | SI | 6476 | sucrase-isomaltase | P14410 |
| C0011860 | Diabetes Mellitus, Non-Insulin-Dependent | SI | 6476 | sucrase-isomaltase | P14410 |
| C0020456 | Hyperglycemia | SI | 6476 | sucrase-isomaltase | P14410 |
| C0011849 | Diabetes Mellitus | SI | 6476 | sucrase-isomaltase | P14410 |
| C0017921 | Glycogen storage disease type II | SI | 6476 | sucrase-isomaltase | P14410 |
| C0011991 | Diarrhea | SI | 6476 | sucrase-isomaltase | P14410 |
| C0342751 | Generalized glycogen storage disease of infants | SI | 6476 | sucrase-isomaltase | P14410 |
| C0020615 | Hypoglycemia | SI | 6476 | sucrase-isomaltase | P14410 |
| C0026848 | Myopathy | SI | 6476 | sucrase-isomaltase | P14410 |
| C1956346 | Coronary Artery Disease | SI | 6476 | sucrase-isomaltase | P14410 |
| C0025517 | Metabolic Diseases | SI | 6476 | sucrase-isomaltase | P14410 |
| C4551472 | Hypertrophic obstructive cardiomyopathy | SI | 6476 | sucrase-isomaltase | P14410 |
