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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 |
|---|---|---|---|---|---|
| C0041341 | Tuberous Sclerosis | OGA | 10724 | O-GlcNAcase | O60502 |
| C0041341 | Tuberous Sclerosis | HEXD | 284004 | hexosaminidase D | Q8WVB3 |
| C0041341 | Tuberous Sclerosis | APRT | 353 | adenine phosphoribosyltransferase | P07741 |
| C0041341 | Tuberous Sclerosis | OGG1 | 4968 | 8-oxoguanine DNA glycosylase | O15527 |
| C0041341 | Tuberous Sclerosis | CANX | 821 | calnexin | P27824 |
| C0041341 | Tuberous Sclerosis | PLB1 | 151056 | phospholipase B1 | Q6P1J6 |
| C0041341 | Tuberous Sclerosis | MLYCD | 23417 | malonyl-CoA decarboxylase | O95822 |
| C0041341 | Tuberous Sclerosis | ICAM1 | 3383 | intercellular adhesion molecule 1 | P05362 |
| C0041341 | Tuberous Sclerosis | PIK3C3 | 5289 | phosphatidylinositol 3-kinase catalytic subunit type 3 | Q8NEB9 |
| C0041341 | Tuberous Sclerosis | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C0041341 | Tuberous Sclerosis | PTGS1 | 5742 | prostaglandin-endoperoxide synthase 1 | P23219 |
| C0041341 | Tuberous Sclerosis | SDHB | 6390 | succinate dehydrogenase complex iron sulfur subunit B | P21912 |
| C0041341 | Tuberous Sclerosis | CBR1 | 873 | carbonyl reductase 1 | P16152 |
| C0041341 | Tuberous Sclerosis | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0041341 | Tuberous Sclerosis | SDC2 | 6383 | syndecan 2 | P34741 |
| C0041341 | Tuberous Sclerosis | FCN2 | 2220 | ficolin 2 | Q15485 |
| C0041341 | Tuberous Sclerosis | AMACR | 23600 | alpha-methylacyl-CoA racemase | Q9UHK6 |
| C0041341 | Tuberous Sclerosis | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C0041341 | Tuberous Sclerosis | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C0041341 | Tuberous Sclerosis | PKD1 | 5310 | polycystin 1, transient receptor potential channel interacting | P98161 |
| C0041341 | Tuberous Sclerosis | PLCD1 | 5333 | phospholipase C delta 1 | P51178 |
| C0041341 | Tuberous Sclerosis | PRKAA2 | 5563 | protein kinase AMP-activated catalytic subunit alpha 2 | P54646 |
| C0041341 | Tuberous Sclerosis | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0041341 | Tuberous Sclerosis | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0302164 | Tuberous xanthoma | CYP27A1 | 1593 | cytochrome P450 family 27 subfamily A member 1 | Q02318 |
