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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 |
|---|---|---|---|---|---|
| C0034951 | Refractive Errors | PCCA | 5095 | propionyl-CoA carboxylase subunit alpha | P05165 |
| C4551546 | Refractory Hairy Cell Leukemia | CD22 | 933 | CD22 molecule | P20273 |
| C0034960 | Refsum Disease | CAT | 847 | catalase | P04040 |
| C0034960 | Refsum Disease | HSD17B4 | 3295 | hydroxysteroid 17-beta dehydrogenase 4 | P51659 |
| C0034960 | Refsum Disease | SCP2 | 6342 | sterol carrier protein 2 | P22307 |
| C0268301 | Reifenstein Syndrome | CD38 | 952 | CD38 molecule | P28907 |
| C0035012 | Reiter Syndrome | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0035021 | Relapsing Fever | GALC | 2581 | galactosylceramidase | P54803 |
| C0035021 | Relapsing Fever | LPIN2 | 9663 | lipin 2 | Q92539 |
| C0035021 | Relapsing Fever | CYP11B2 | 1585 | cytochrome P450 family 11 subfamily B member 2 | P19099 |
| C0035021 | Relapsing Fever | CYP21A2 | 1589 | cytochrome P450 family 21 subfamily A member 2 | P08686 |
| C0221276 | Relative erythrocytosis | CD177 | 57126 | CD177 molecule | Q8N6Q3 |
| C0035067 | Renal Artery Stenosis | FIG4 | 9896 | FIG4 phosphoinositide 5-phosphatase | Q92562 |
| C0035067 | Renal Artery Stenosis | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C0035067 | Renal Artery Stenosis | CMAS | 55907 | cytidine monophosphate N-acetylneuraminic acid synthetase | Q8NFW8 |
| C0035067 | Renal Artery Stenosis | SDHB | 6390 | succinate dehydrogenase complex iron sulfur subunit B | P21912 |
| C0035067 | Renal Artery Stenosis | SDHD | 6392 | succinate dehydrogenase complex subunit D | O14521 |
| C0007134 | Renal Cell Carcinoma | GALNT3 | 2591 | polypeptide N-acetylgalactosaminyltransferase 3 | Q14435 |
| C0007134 | Renal Cell Carcinoma | B3GAT1 | 27087 | beta-1,3-glucuronyltransferase 1 | Q9P2W7 |
| C0007134 | Renal Cell Carcinoma | GALNT2 | 2590 | polypeptide N-acetylgalactosaminyltransferase 2 | Q10471 |
| C0007134 | Renal Cell Carcinoma | HAS1 | 3036 | hyaluronan synthase 1 | Q92839 |
| C0007134 | Renal Cell Carcinoma | ST3GAL4 | 6484 | ST3 beta-galactoside alpha-2,3-sialyltransferase 4 | Q11206 |
| C0007134 | Renal Cell Carcinoma | ST3GAL2 | 6483 | ST3 beta-galactoside alpha-2,3-sialyltransferase 2 | Q16842 |
| C0007134 | Renal Cell Carcinoma | ST8SIA4 | 7903 | ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4 | Q92187 |
| C0007134 | Renal Cell Carcinoma | OGT | 8473 | O-linked N-acetylglucosamine (GlcNAc) transferase | O15294 |
