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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 |
|---|---|---|---|---|---|
| C0020502 | Hyperparathyroidism | PLCB3 | 5331 | phospholipase C beta 3 | Q01970 |
| C0020502 | Hyperparathyroidism | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0020501 | Primary Hyperoxaluria | APRT | 353 | adenine phosphoribosyltransferase | P07741 |
| C0020501 | Primary Hyperoxaluria | UGDH | 7358 | UDP-glucose 6-dehydrogenase | O60701 |
| C0020501 | Primary Hyperoxaluria | H6PD | 9563 | hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase | O95479 |
| C0020501 | Primary Hyperoxaluria | HOGA1 | 112817 | 4-hydroxy-2-oxoglutarate aldolase 1 | Q86XE5 |
| C0020501 | Primary Hyperoxaluria | HAO2 | 51179 | hydroxyacid oxidase 2 | Q9NYQ3 |
| C0020501 | Primary Hyperoxaluria | CRYL1 | 51084 | crystallin lambda 1 | Q9Y2S2 |
| C0020501 | Primary Hyperoxaluria | GRHPR | 9380 | glyoxylate and hydroxypyruvate reductase | Q9UBQ7 |
| C0020501 | Primary Hyperoxaluria | AGXT | 189 | alanine--glyoxylate and serine--pyruvate aminotransferase | P21549 |
| C0020501 | Primary Hyperoxaluria | HAO1 | 54363 | hydroxyacid oxidase 1 | Q9UJM8 |
| C0020501 | Primary Hyperoxaluria | SULT1E1 | 6783 | sulfotransferase family 1E member 1 | P49888 |
| C0020500 | Hyperoxaluria | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0020500 | Hyperoxaluria | HOGA1 | 112817 | 4-hydroxy-2-oxoglutarate aldolase 1 | Q86XE5 |
| C0020500 | Hyperoxaluria | HAO2 | 51179 | hydroxyacid oxidase 2 | Q9NYQ3 |
| C0020500 | Hyperoxaluria | GRHPR | 9380 | glyoxylate and hydroxypyruvate reductase | Q9UBQ7 |
| C0020500 | Hyperoxaluria | AGXT | 189 | alanine--glyoxylate and serine--pyruvate aminotransferase | P21549 |
| C0020500 | Hyperoxaluria | HAO1 | 54363 | hydroxyacid oxidase 1 | Q9UJM8 |
| C0020498 | Hyperostosis, Diffuse Idiopathic Skeletal | CD38 | 952 | CD38 molecule | P28907 |
| C0020498 | Hyperostosis, Diffuse Idiopathic Skeletal | LSS | 4047 | lanosterol synthase | P48449 |
| C0020497 | Cortical Congenital Hyperostosis | A4GALT | 53947 | alpha 1,4-galactosyltransferase (P blood group) | Q9NPC4 |
| C0020492 | Hyperostosis | EXT1 | 2131 | exostosin glycosyltransferase 1 | Q16394 |
| C0020492 | Hyperostosis | EXT2 | 2132 | exostosin glycosyltransferase 2 | Q93063 |
| C0020492 | Hyperostosis | GALNT3 | 2591 | polypeptide N-acetylgalactosaminyltransferase 3 | Q14435 |
| C0020492 | Hyperostosis | ALPL | 249 | alkaline phosphatase, biomineralization associated | P05186 |
