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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 |
|---|---|---|---|---|---|
| C0022810 | Kyasanur Forest Disease | SELE | 6401 | selectin E | P16581 |
| C0022810 | Kyasanur Forest Disease | VCAM1 | 7412 | vascular cell adhesion molecule 1 | P19320 |
| C0022806 | Kwashiorkor | CAT | 847 | catalase | P04040 |
| C0022802 | Kuru | PRNP | 5621 | prion protein | P04156 |
| C0022802 | Kuru | PRNP | 5621 | prion protein | F7VJQ1 |
| C0022797 | Adult Neuronal Ceroid Lipofuscinosis | CLN5 | 1203 | CLN5 intracellular trafficking protein | O75503 |
| C0022797 | Adult Neuronal Ceroid Lipofuscinosis | PPT1 | 5538 | palmitoyl-protein thioesterase 1 | P50897 |
| C0022790 | Krukenberg Tumor | PGP | 283871 | phosphoglycolate phosphatase | A6NDG6 |
| C0022790 | Krukenberg Tumor | CEACAM5 | 1048 | CEA cell adhesion molecule 5 | P06731 |
| C0022790 | Krukenberg Tumor | CEACAM7 | 1087 | CEA cell adhesion molecule 7 | Q14002 |
| C0022783 | Vulvar Lichen Sclerosus | IDH1 | 3417 | isocitrate dehydrogenase (NADP(+)) 1 | O75874 |
| C0022783 | Vulvar Lichen Sclerosus | DCN | 1634 | decorin | P07585 |
| C0022783 | Vulvar Lichen Sclerosus | IDH2 | 3418 | isocitrate dehydrogenase (NADP(+)) 2 | P48735 |
| C0022739 | Klippel-Trenaunay-Weber Syndrome | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0022735 | Klinefelter Syndrome | IL1RAPL1 | 11141 | interleukin 1 receptor accessory protein like 1 | Q9NZN1 |
| C0022735 | Klinefelter Syndrome | PNPLA6 | 10908 | patatin like phospholipase domain containing 6 | Q8IY17 |
| C0022735 | Klinefelter Syndrome | STS | 412 | steroid sulfatase | P08842 |
| C0022735 | Klinefelter Syndrome | GK | 2710 | glycerol kinase | P32189 |
| C0022735 | Klinefelter Syndrome | EBP | 10682 | EBP cholestenol delta-isomerase | Q15125 |
| C0022735 | Klinefelter Syndrome | CYP19A1 | 1588 | cytochrome P450 family 19 subfamily A member 1 | P11511 |
| C0022735 | Klinefelter Syndrome | SOAT1 | 6646 | sterol O-acyltransferase 1 | P35610 |
| C0022716 | Menkes Kinky Hair Syndrome | PGK1 | 5230 | phosphoglycerate kinase 1 | P00558 |
| C0022716 | Menkes Kinky Hair Syndrome | CD38 | 952 | CD38 molecule | P28907 |
| C0022680 | Polycystic Kidney Diseases | XYLT2 | 64132 | xylosyltransferase 2 | Q9H1B5 |
| C0022680 | Polycystic Kidney Diseases | ALG9 | 79796 | ALG9 alpha-1,2-mannosyltransferase | Q9H6U8 |
