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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 |
|---|---|---|---|---|---|
| C0575158 | Kyphoscoliosis deformity of spine | NSDHL | 50814 | NAD(P) dependent steroid dehydrogenase-like | Q15738 |
| C0575158 | Kyphoscoliosis deformity of spine | CRPPA | 729920 | CDP-L-ribitol pyrophosphorylase A | A4D126 |
| C0574084 | 3-Methylglutaconic aciduria type 3 | ATRN | 8455 | attractin | O75882 |
| C0574083 | 3-Methylglutaconic aciduria type 2 | PNPLA2 | 57104 | patatin like phospholipase domain containing 2 | Q96AD5 |
| C0574083 | 3-Methylglutaconic aciduria type 2 | ATRN | 8455 | attractin | O75882 |
| C0574083 | 3-Methylglutaconic aciduria type 2 | HADHA | 3030 | hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha | P40939 |
| C0566602 | Primary sclerosing cholangitis | FUT2 | 2524 | fucosyltransferase 2 | Q10981 |
| C0566602 | Primary sclerosing cholangitis | FUT3 | 2525 | fucosyltransferase 3 (Lewis blood group) | P21217 |
| C0566602 | Primary sclerosing cholangitis | B3GAT1 | 27087 | beta-1,3-glucuronyltransferase 1 | Q9P2W7 |
| C0566602 | Primary sclerosing cholangitis | AGA | 175 | aspartylglucosaminidase | P20933 |
| C0566602 | Primary sclerosing cholangitis | ARSA | 410 | arylsulfatase A | P15289 |
| C0566602 | Primary sclerosing cholangitis | DLAT | 1737 | dihydrolipoamide S-acetyltransferase | P10515 |
| C0566602 | Primary sclerosing cholangitis | SDC1 | 6382 | syndecan 1 | P18827 |
| C0566602 | Primary sclerosing cholangitis | NEIL1 | 79661 | nei like DNA glycosylase 1 | Q96FI4 |
| C0566602 | Primary sclerosing cholangitis | CEACAM5 | 1048 | CEA cell adhesion molecule 5 | P06731 |
| C0566602 | Primary sclerosing cholangitis | MGLL | 11343 | monoglyceride lipase | Q99685 |
| C0566602 | Primary sclerosing cholangitis | KLRK1 | 22914 | killer cell lectin like receptor K1 | P26718 |
| C0566602 | Primary sclerosing cholangitis | SLC17A5 | 26503 | solute carrier family 17 member 5 | Q9NRA2 |
| C0566602 | Primary sclerosing cholangitis | ICAM1 | 3383 | intercellular adhesion molecule 1 | P05362 |
| C0566602 | Primary sclerosing cholangitis | STS | 412 | steroid sulfatase | P08842 |
| C0566602 | Primary sclerosing cholangitis | NCAM1 | 4684 | neural cell adhesion molecule 1 | P13591 |
| C0566602 | Primary sclerosing cholangitis | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C0566602 | Primary sclerosing cholangitis | PNPLA3 | 80339 | patatin like phospholipase domain containing 3 | Q9NST1 |
| C0566602 | Primary sclerosing cholangitis | CD14 | 929 | CD14 molecule | P08571 |
| C0566602 | Primary sclerosing cholangitis | PTGES | 9536 | prostaglandin E synthase | O14684 |
