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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 |
|---|---|---|---|---|---|
| C1535939 | Pneumocystis jiroveci pneumonia | SLC27A5 | 10998 | solute carrier family 27 member 5 | Q9Y2P5 |
| C1535939 | Pneumocystis jiroveci pneumonia | UAP1 | 6675 | UDP-N-acetylglucosamine pyrophosphorylase 1 | Q16222 |
| C1536500 | Deficiency of acetyl-CoA acetyltransferase | ACAT1 | 38 | acetyl-CoA acetyltransferase 1 | P24752 |
| C1536500 | Deficiency of acetyl-CoA acetyltransferase | ACAT2 | 39 | acetyl-CoA acetyltransferase 2 | Q9BWD1 |
| C1536500 | Deficiency of acetyl-CoA acetyltransferase | ACAA2 | 10449 | acetyl-CoA acyltransferase 2 | P42765 |
| C1536500 | Deficiency of acetyl-CoA acetyltransferase | ACAA1 | 30 | acetyl-CoA acyltransferase 1 | P09110 |
| C1536500 | Deficiency of acetyl-CoA acetyltransferase | HADHB | 3032 | hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta | P55084 |
| C1536500 | Deficiency of acetyl-CoA acetyltransferase | OXCT1 | 5019 | 3-oxoacid CoA-transferase 1 | P55809 |
| C1540912 | Hypereosinophilic syndrome | ETNK1 | 55500 | ethanolamine kinase 1 | Q9HBU6 |
| C1541923 | Infective endocarditis | ENO1 | 2023 | enolase 1 | P06733 |
| C1541923 | Infective endocarditis | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C1541923 | Infective endocarditis | GPI | 2821 | glucose-6-phosphate isomerase | P06744 |
| C1541923 | Infective endocarditis | MANEA | 79694 | mannosidase endo-alpha | Q5SRI9 |
| C1541923 | Infective endocarditis | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C1541923 | Infective endocarditis | ICAM1 | 3383 | intercellular adhesion molecule 1 | P05362 |
| C1541923 | Infective endocarditis | CHPT1 | 56994 | choline phosphotransferase 1 | Q8WUD6 |
| C1541923 | Infective endocarditis | ARSD | 414 | arylsulfatase D | P51689 |
| C1541923 | Infective endocarditis | MTM1 | 4534 | myotubularin 1 | Q13496 |
| C1541923 | Infective endocarditis | PCYT1A | 5130 | phosphate cytidylyltransferase 1, choline, alpha | P49585 |
| C1561643 | Chronic Kidney Diseases | EXTL2 | 2135 | exostosin like glycosyltransferase 2 | Q9UBQ6 |
| C1561643 | Chronic Kidney Diseases | B3GAT1 | 27087 | beta-1,3-glucuronyltransferase 1 | Q9P2W7 |
| C1561643 | Chronic Kidney Diseases | GALNT3 | 2591 | polypeptide N-acetylgalactosaminyltransferase 3 | Q14435 |
| C1561643 | Chronic Kidney Diseases | ABO | 28 | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | P16442 |
| C1561643 | Chronic Kidney Diseases | XYLT2 | 64132 | xylosyltransferase 2 | Q9H1B5 |
| C1561643 | Chronic Kidney Diseases | ST8SIA4 | 7903 | ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4 | Q92187 |
