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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 |
|---|---|---|---|---|---|
| C0376358 | Malignant neoplasm of prostate | CYP4F8 | 11283 | cytochrome P450 family 4 subfamily F member 8 | P98187 |
| C1306459 | Primary malignant neoplasm | MGAT4B | 11282 | alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase B | Q9UQ53 |
| C1269683 | Major Depressive Disorder | MGAT4B | 11282 | alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase B | Q9UQ53 |
| C0006826 | Malignant Neoplasms | MGAT4B | 11282 | alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase B | Q9UQ53 |
| C3150878 | Primary hyperoxaluria type III | HOGA1 | 112817 | 4-hydroxy-2-oxoglutarate aldolase 1 | Q86XE5 |
| C0020501 | Primary Hyperoxaluria | HOGA1 | 112817 | 4-hydroxy-2-oxoglutarate aldolase 1 | Q86XE5 |
| C0020500 | Hyperoxaluria | HOGA1 | 112817 | 4-hydroxy-2-oxoglutarate aldolase 1 | Q86XE5 |
| C0008370 | Cholestasis | HOGA1 | 112817 | 4-hydroxy-2-oxoglutarate aldolase 1 | Q86XE5 |
| C0027709 | Nephrocalcinosis | HOGA1 | 112817 | 4-hydroxy-2-oxoglutarate aldolase 1 | Q86XE5 |
| C1833683 | NEPHROLITHIASIS, CALCIUM OXALATE | HOGA1 | 112817 | 4-hydroxy-2-oxoglutarate aldolase 1 | Q86XE5 |
| C0022661 | Kidney Failure, Chronic | HOGA1 | 112817 | 4-hydroxy-2-oxoglutarate aldolase 1 | Q86XE5 |
| C0020505 | Hyperphagia | MAN1B1 | 11253 | mannosidase alpha class 1B member 1 | Q9UKM7 |
| C0234533 | Generalized seizures | MAN1B1 | 11253 | mannosidase alpha class 1B member 1 | Q9UKM7 |
| C0010495 | Cutis Laxa | MAN1B1 | 11253 | mannosidase alpha class 1B member 1 | Q9UKM7 |
| C0023895 | Liver diseases | MAN1B1 | 11253 | mannosidase alpha class 1B member 1 | Q9UKM7 |
| C1842836 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ii | MAN1B1 | 11253 | mannosidase alpha class 1B member 1 | Q9UKM7 |
| C0025958 | Microcephaly | MAN1B1 | 11253 | mannosidase alpha class 1B member 1 | Q9UKM7 |
| C0005695 | Bladder Neoplasm | MAN1B1 | 11253 | mannosidase alpha class 1B member 1 | Q9UKM7 |
| C3714756 | Intellectual Disability | MAN1B1 | 11253 | mannosidase alpha class 1B member 1 | Q9UKM7 |
| C0038273 | Stereotypic Movement Disorder | MAN1B1 | 11253 | mannosidase alpha class 1B member 1 | Q9UKM7 |
| C0013384 | Dyskinetic syndrome | MAN1B1 | 11253 | mannosidase alpha class 1B member 1 | Q9UKM7 |
| C0020490 | Hyperopia | MAN1B1 | 11253 | mannosidase alpha class 1B member 1 | Q9UKM7 |
| C0005684 | Malignant neoplasm of urinary bladder | MAN1B1 | 11253 | mannosidase alpha class 1B member 1 | Q9UKM7 |
| C3280127 | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15 | MAN1B1 | 11253 | mannosidase alpha class 1B member 1 | Q9UKM7 |
| C0036572 | Seizures | MAN1B1 | 11253 | mannosidase alpha class 1B member 1 | Q9UKM7 |
