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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 |
|---|---|---|---|---|---|
| C0027962 | Melanocytic nevus | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0474847 | Melanotic malignant nerve sheath tumor | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C1275668 | Melanotic medulloblastoma | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C0025221 | Meleda Disease | MMUT | 4594 | methylmalonyl-CoA mutase | P22033 |
| C0025221 | Meleda Disease | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0025229 | Melioidosis | CALR | 811 | calreticulin | P27797 |
| C0025229 | Melioidosis | STS | 412 | steroid sulfatase | P08842 |
| C0025229 | Melioidosis | SELL | 6402 | selectin L | P14151 |
| C0025229 | Melioidosis | HSD17B6 | 8630 | hydroxysteroid 17-beta dehydrogenase 6 | O14756 |
| C0025229 | Melioidosis | CD14 | 929 | CD14 molecule | P08571 |
| C0025237 | Melnick-Needles Syndrome | CHST3 | 9469 | carbohydrate sulfotransferase 3 | Q7LGC8 |
| C0025237 | Melnick-Needles Syndrome | GLB1 | 2720 | galactosidase beta 1 | P16278 |
| C0025237 | Melnick-Needles Syndrome | HSPG2 | 3339 | heparan sulfate proteoglycan 2 | P98160 |
| C0268742 | Membranoproliferative Glomerulonephritis, Type I | DGKE | 8526 | diacylglycerol kinase epsilon | P52429 |
| C1720821 | Membranoproliferative Glomerulonephritis, Type III | DGKE | 8526 | diacylglycerol kinase epsilon | P52429 |
| C0017665 | Membranous glomerulonephritis | EXT2 | 2132 | exostosin glycosyltransferase 2 | Q93063 |
| C0017665 | Membranous glomerulonephritis | EXT1 | 2131 | exostosin glycosyltransferase 1 | Q16394 |
| C0017665 | Membranous glomerulonephritis | GAA | 2548 | glucosidase alpha, acid | P10253 |
| C0017665 | Membranous glomerulonephritis | HPSE | 10855 | heparanase | Q9Y251 |
| C0017665 | Membranous glomerulonephritis | ENO1 | 2023 | enolase 1 | P06733 |
| C0017665 | Membranous glomerulonephritis | PLB1 | 151056 | phospholipase B1 | Q6P1J6 |
| C0017665 | Membranous glomerulonephritis | CYP3A5 | 1577 | cytochrome P450 family 3 subfamily A member 5 | P20815 |
| C0017665 | Membranous glomerulonephritis | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C0017665 | Membranous glomerulonephritis | MLYCD | 23417 | malonyl-CoA decarboxylase | O95822 |
| C0017665 | Membranous glomerulonephritis | MBL2 | 4153 | mannose binding lectin 2 | P11226 |
