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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 |
|---|---|---|---|---|---|
| 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 |
| C0566602 | Primary sclerosing cholangitis | MICA | 100507436 | MHC class I polypeptide-related sequence A | Q29983 |
| C0566602 | Primary sclerosing cholangitis | CEACAM7 | 1087 | CEA cell adhesion molecule 7 | Q14002 |
| C0566602 | Primary sclerosing cholangitis | LSS | 4047 | lanosterol synthase | P48449 |
| C0566602 | Primary sclerosing cholangitis | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| 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 |
| C0574084 | 3-Methylglutaconic aciduria type 3 | ATRN | 8455 | attractin | O75882 |
| C0575158 | Kyphoscoliosis deformity of spine | B4GALT7 | 11285 | beta-1,4-galactosyltransferase 7 | Q9UBV7 |
| C0575158 | Kyphoscoliosis deformity of spine | B3GALT6 | 126792 | beta-1,3-galactosyltransferase 6 | Q96L58 |
| C0575158 | Kyphoscoliosis deformity of spine | POMT1 | 10585 | protein O-mannosyltransferase 1 | Q9Y6A1 |
| C0575158 | Kyphoscoliosis deformity of spine | FKTN | 2218 | fukutin | O75072 |
| C0575158 | Kyphoscoliosis deformity of spine | EXTL3 | 2137 | exostosin like glycosyltransferase 3 | O43909 |
| C0575158 | Kyphoscoliosis deformity of spine | FUT8 | 2530 | fucosyltransferase 8 | Q9BYC5 |
| C0575158 | Kyphoscoliosis deformity of spine | FKRP | 79147 | fukutin related protein | Q9H9S5 |
| C0575158 | Kyphoscoliosis deformity of spine | HGSNAT | 138050 | heparan-alpha-glucosaminide N-acetyltransferase | Q68CP4 |
| C0575158 | Kyphoscoliosis deformity of spine | CHST3 | 9469 | carbohydrate sulfotransferase 3 | Q7LGC8 |
