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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 |
|---|---|---|---|---|---|
| C0878677 | Glycogen Storage Disease Type IIb | APRT | 353 | adenine phosphoribosyltransferase | P07741 |
| C0878675 | Erdheim-Chester Disease | ASAH1 | 427 | N-acylsphingosine amidohydrolase 1 | Q13510 |
| C0878675 | Erdheim-Chester Disease | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0878675 | Erdheim-Chester Disease | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C0878675 | Erdheim-Chester Disease | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0878675 | Erdheim-Chester Disease | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C0878675 | Erdheim-Chester Disease | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C0878544 | Cardiomyopathies | POMT1 | 10585 | protein O-mannosyltransferase 1 | Q9Y6A1 |
| C0878544 | Cardiomyopathies | FKTN | 2218 | fukutin | O75072 |
| C0878544 | Cardiomyopathies | FUT4 | 2526 | fucosyltransferase 4 | P22083 |
| C0878544 | Cardiomyopathies | HAS3 | 3038 | hyaluronan synthase 3 | O00219 |
| C0878544 | Cardiomyopathies | DPM3 | 54344 | dolichyl-phosphate mannosyltransferase subunit 3, regulatory | Q9P2X0 |
| C0878544 | Cardiomyopathies | MGAT1 | 4245 | alpha-1,3-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase | P26572 |
| C0878544 | Cardiomyopathies | ALG1 | 56052 | ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase | Q9BT22 |
| C0878544 | Cardiomyopathies | POMGNT1 | 55624 | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Q8WZA1 |
| C0878544 | Cardiomyopathies | FKRP | 79147 | fukutin related protein | Q9H9S5 |
| C0878544 | Cardiomyopathies | ST3GAL4 | 6484 | ST3 beta-galactoside alpha-2,3-sialyltransferase 4 | Q11206 |
| C0878544 | Cardiomyopathies | POMK | 84197 | protein O-mannose kinase | Q9H5K3 |
| C0878544 | Cardiomyopathies | CHST3 | 9469 | carbohydrate sulfotransferase 3 | Q7LGC8 |
| C0878544 | Cardiomyopathies | GNE | 10020 | glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Q9Y223 |
| C0878544 | Cardiomyopathies | GAA | 2548 | glucosidase alpha, acid | P10253 |
| C0878544 | Cardiomyopathies | GLA | 2717 | galactosidase alpha | P06280 |
| C0878544 | Cardiomyopathies | GLB1 | 2720 | galactosidase beta 1 | P16278 |
| C0878544 | Cardiomyopathies | GUSB | 2990 | glucuronidase beta | P08236 |
| C0878544 | Cardiomyopathies | IDUA | 3425 | alpha-L-iduronidase | P35475 |
