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 |
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DisGeNET | July 29, 2024 |
Disease ID | Disease Name ▼ | Gene Symbol | Gene ID | Gene Name | UniProt ID |
---|---|---|---|---|---|
C0007134 | Renal Cell Carcinoma | ACYP2 | 98 | acylphosphatase 2 | P14621 |
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 |
C0221276 | Relative erythrocytosis | CD177 | 57126 | CD177 molecule | Q8N6Q3 |
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 |
C0035012 | Reiter Syndrome | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
C0268301 | Reifenstein Syndrome | CD38 | 952 | CD38 molecule | P28907 |
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 |
C4551546 | Refractory Hairy Cell Leukemia | CD22 | 933 | CD22 molecule | P20273 |
C0034951 | Refractive Errors | B3GAT3 | 26229 | beta-1,3-glucuronyltransferase 3 | O94766 |
C0034951 | Refractive Errors | PCCA | 5095 | propionyl-CoA carboxylase subunit alpha | P05165 |
C0393720 | Reflex Epilepsy, Photosensitive | CYP27A1 | 1593 | cytochrome P450 family 27 subfamily A member 1 | Q02318 |
C0262655 | Recurrent urinary tract infection | EXT1 | 2131 | exostosin glycosyltransferase 1 | Q16394 |
C0262655 | Recurrent urinary tract infection | ABO | 28 | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | P16442 |
C0262655 | Recurrent urinary tract infection | ALG1 | 56052 | ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase | Q9BT22 |
C0262655 | Recurrent urinary tract infection | APRT | 353 | adenine phosphoribosyltransferase | P07741 |
C0262655 | Recurrent urinary tract infection | PNP | 4860 | purine nucleoside phosphorylase | P00491 |
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Last updated: August 19, 2024