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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 |
|---|---|---|---|---|---|
| C0025517 | Metabolic Diseases | PNPLA3 | 80339 | patatin like phospholipase domain containing 3 | Q9NST1 |
| C0025517 | Metabolic Diseases | PDHX | 8050 | pyruvate dehydrogenase complex component X | O00330 |
| C0025517 | Metabolic Diseases | CAT | 847 | catalase | P04040 |
| C0025517 | Metabolic Diseases | MCEE | 84693 | methylmalonyl-CoA epimerase | Q96PE7 |
| C0025517 | Metabolic Diseases | DGAT1 | 8694 | diacylglycerol O-acyltransferase 1 | O75907 |
| C0025517 | Metabolic Diseases | VNN1 | 8876 | vanin 1 | O95497 |
| C0025517 | Metabolic Diseases | VNN2 | 8875 | vanin 2 | O95498 |
| C0025517 | Metabolic Diseases | SIGLEC12 | 89858 | sialic acid binding Ig like lectin 12 (gene/pseudogene) | Q96PQ1 |
| C0025517 | Metabolic Diseases | CD14 | 929 | CD14 molecule | P08571 |
| C0025517 | Metabolic Diseases | CYP7B1 | 9420 | cytochrome P450 family 7 subfamily B member 1 | O75881 |
| C0025517 | Metabolic Diseases | LPIN2 | 9663 | lipin 2 | Q92539 |
| C0025517 | Metabolic Diseases | CD74 | 972 | CD74 molecule | P04233 |
| C0025517 | Metabolic Diseases | NAMPT | 10135 | nicotinamide phosphoribosyltransferase | P43490 |
| C0025517 | Metabolic Diseases | SIRT4 | 23409 | sirtuin 4 | Q9Y6E7 |
| C0025517 | Metabolic Diseases | RPIA | 22934 | ribose 5-phosphate isomerase A | P49247 |
| C0025517 | Metabolic Diseases | CPT1A | 1374 | carnitine palmitoyltransferase 1A | P50416 |
| C0025517 | Metabolic Diseases | GALT | 2592 | galactose-1-phosphate uridylyltransferase | P07902 |
| C0025517 | Metabolic Diseases | G6PC | 2538 | glucose-6-phosphatase catalytic subunit | P35575 |
| C0025517 | Metabolic Diseases | GALK1 | 2584 | galactokinase 1 | P51570 |
| C0025517 | Metabolic Diseases | GCK | 2645 | glucokinase | P35557 |
| C0025517 | Metabolic Diseases | IDH2 | 3418 | isocitrate dehydrogenase (NADP(+)) 2 | P48735 |
| C0025517 | Metabolic Diseases | KHK | 3795 | ketohexokinase | P50053 |
| C0025517 | Metabolic Diseases | PGAM2 | 5224 | phosphoglycerate mutase 2 | P15259 |
| C0025517 | Metabolic Diseases | ACOX1 | 51 | acyl-CoA oxidase 1 | Q15067 |
| C0025517 | Metabolic Diseases | PCK2 | 5106 | phosphoenolpyruvate carboxykinase 2, mitochondrial | Q16822 |
