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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 |
|---|---|---|---|---|---|
| C1856689 | FRIEDREICH ATAXIA 1 | CAT | 847 | catalase | P04040 |
| C1856689 | FRIEDREICH ATAXIA 1 | PRKAA2 | 5563 | protein kinase AMP-activated catalytic subunit alpha 2 | P54646 |
| C1856934 | Epidermolysis bullosa with pyloric atresia | GALK1 | 2584 | galactokinase 1 | P51570 |
| C1857100 | Dyssegmental dysplasia | HSPG2 | 3339 | heparan sulfate proteoglycan 2 | P98160 |
| C1857231 | LACTASE PERSISTENCE | GLB1 | 2720 | galactosidase beta 1 | P16278 |
| C1857231 | LACTASE PERSISTENCE | LCT | 3938 | lactase | P09848 |
| C1857242 | Rhizomelic chondrodysplasia punctata, type 2 | GNPAT | 8443 | glyceronephosphate O-acyltransferase | O15228 |
| C1857255 | Diastrophic Dysplasia, Broad Bone-Platyspondylic Variant | SLC26A2 | 1836 | solute carrier family 26 member 2 | P50443 |
| C1857276 | Trichohepatoenteric Syndrome | B3GLCT | 145173 | beta 3-glucosyltransferase | Q6Y288 |
| C1857276 | Trichohepatoenteric Syndrome | B4GALT7 | 11285 | beta-1,4-galactosyltransferase 7 | Q9UBV7 |
| C1857276 | Trichohepatoenteric Syndrome | PIGA | 5277 | phosphatidylinositol glycan anchor biosynthesis class A | P37287 |
| C1857276 | Trichohepatoenteric Syndrome | XYLT2 | 64132 | xylosyltransferase 2 | Q9H1B5 |
| C1857276 | Trichohepatoenteric Syndrome | ST3GAL5 | 8869 | ST3 beta-galactoside alpha-2,3-sialyltransferase 5 | Q9UNP4 |
| C1857276 | Trichohepatoenteric Syndrome | CHST3 | 9469 | carbohydrate sulfotransferase 3 | Q7LGC8 |
| C1857276 | Trichohepatoenteric Syndrome | IDS | 3423 | iduronate 2-sulfatase | P22304 |
| C1857276 | Trichohepatoenteric Syndrome | UGT1A1 | 54658 | UDP glucuronosyltransferase family 1 member A1 | P22309 |
| C1857276 | Trichohepatoenteric Syndrome | GBA2 | 57704 | glucosylceramidase beta 2 | Q9HCG7 |
| C1857276 | Trichohepatoenteric Syndrome | HPSE2 | 60495 | heparanase 2 (inactive) | Q8WWQ2 |
| C1857276 | Trichohepatoenteric Syndrome | CALR | 811 | calreticulin | P27797 |
| C1857276 | Trichohepatoenteric Syndrome | SMC3 | 9126 | structural maintenance of chromosomes 3 | Q9UQE7 |
| C1857276 | Trichohepatoenteric Syndrome | TNKS | 8658 | tankyrase | O95271 |
| C1857276 | Trichohepatoenteric Syndrome | AGPAT2 | 10555 | 1-acylglycerol-3-phosphate O-acyltransferase 2 | O15120 |
| C1857276 | Trichohepatoenteric Syndrome | CHGA | 1113 | chromogranin A | P10645 |
| C1857276 | Trichohepatoenteric Syndrome | CNTN4 | 152330 | contactin 4 | Q8IWV2 |
| C1857276 | Trichohepatoenteric Syndrome | CYP17A1 | 1586 | cytochrome P450 family 17 subfamily A member 1 | P05093 |
