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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 |
|---|---|---|---|---|---|
| C2919796 | Glycogen storage disease type Ia | ARSA | 410 | arylsulfatase A | P15289 |
| C2919796 | Glycogen storage disease type Ia | G6PC3 | 92579 | glucose-6-phosphatase catalytic subunit 3 | Q9BUM1 |
| C2919796 | Glycogen storage disease type Ia | SLC37A4 | 2542 | solute carrier family 37 member 4 | O43826 |
| C2919796 | Glycogen storage disease type Ia | G6PC | 2538 | glucose-6-phosphatase catalytic subunit | P35575 |
| C2910124 | Isomerism of atrial appendages with asplenia or polysplenia | CFC1 | 55997 | cripto, FRL-1, cryptic family 1 | P0CG37 |
| C2902889 | Nephrotic syndrome with focal glomerulonephritis | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C2902888 | Nephrotic syndrome with focal and segmental sclerosis | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C2902887 | Nephrotic syndrome with focal and segmental hyalinosis | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C2882221 | Acute pulmonary embolism | EXTL3 | 2137 | exostosin like glycosyltransferase 3 | O43909 |
| C2882221 | Acute pulmonary embolism | SIRT2 | 22933 | sirtuin 2 | Q8IXJ6 |
| C2882221 | Acute pulmonary embolism | CHGA | 1113 | chromogranin A | P10645 |
| C2882221 | Acute pulmonary embolism | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C2882221 | Acute pulmonary embolism | SELE | 6401 | selectin E | P16581 |
| C2882221 | Acute pulmonary embolism | PCYT1A | 5130 | phosphate cytidylyltransferase 1, choline, alpha | P49585 |
| C2875367 | Complex regional pain syndrome I, unspecified | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C2875316 | Myotubular (centronuclear) myopathy | B4GAT1 | 11041 | beta-1,4-glucuronyltransferase 1 | O43505 |
| C2875316 | Myotubular (centronuclear) myopathy | POMT1 | 10585 | protein O-mannosyltransferase 1 | Q9Y6A1 |
| C2875316 | Myotubular (centronuclear) myopathy | FKTN | 2218 | fukutin | O75072 |
| C2875316 | Myotubular (centronuclear) myopathy | POMGNT1 | 55624 | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Q8WZA1 |
| C2875316 | Myotubular (centronuclear) myopathy | FKRP | 79147 | fukutin related protein | Q9H9S5 |
| C2875316 | Myotubular (centronuclear) myopathy | LARGE1 | 9215 | LARGE xylosyl- and glucuronyltransferase 1 | O95461 |
| C2875316 | Myotubular (centronuclear) myopathy | CHKB | 1120 | choline kinase beta | Q9Y259 |
| C2875316 | Myotubular (centronuclear) myopathy | MTM1 | 4534 | myotubularin 1 | Q13496 |
| C2875300 | Peroneal muscular atrophy (axonal type) (hypertrophic type) | FIG4 | 9896 | FIG4 phosphoinositide 5-phosphatase | Q92562 |
| C2875300 | Peroneal muscular atrophy (axonal type) (hypertrophic type) | MTMR2 | 8898 | myotubularin related protein 2 | Q13614 |
