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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 |
|---|---|---|---|---|---|
| C0265221 | Walker-Warburg congenital muscular dystrophy | GMPPB | 29925 | GDP-mannose pyrophosphorylase B | Q9Y5P6 |
| C0265221 | Walker-Warburg congenital muscular dystrophy | DAG1 | 1605 | dystroglycan 1 | Q14118 |
| C0265221 | Walker-Warburg congenital muscular dystrophy | CRPPA | 729920 | CDP-L-ribitol pyrophosphorylase A | A4D126 |
| C0024419 | Waldenstrom Macroglobulinemia | HAS1 | 3036 | hyaluronan synthase 1 | Q92839 |
| C0024419 | Waldenstrom Macroglobulinemia | HAS2 | 3037 | hyaluronan synthase 2 | Q92819 |
| C0024419 | Waldenstrom Macroglobulinemia | SLC35B2 | 347734 | solute carrier family 35 member B2 | Q8TB61 |
| C0024419 | Waldenstrom Macroglobulinemia | FCER2 | 2208 | Fc fragment of IgE receptor II | P06734 |
| C0024419 | Waldenstrom Macroglobulinemia | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0024419 | Waldenstrom Macroglobulinemia | CD38 | 952 | CD38 molecule | P28907 |
| C0024419 | Waldenstrom Macroglobulinemia | COLEC10 | 10584 | collectin subfamily member 10 | Q9Y6Z7 |
| C0024419 | Waldenstrom Macroglobulinemia | CLEC12A | 160364 | C-type lectin domain family 12 member A | Q5QGZ9 |
| C0024419 | Waldenstrom Macroglobulinemia | ACSBG1 | 23205 | acyl-CoA synthetase bubblegum family member 1 | Q96GR2 |
| C0024419 | Waldenstrom Macroglobulinemia | ANXA5 | 308 | annexin A5 | P08758 |
| C0024419 | Waldenstrom Macroglobulinemia | HMMR | 3161 | hyaluronan mediated motility receptor | O75330 |
| C0024419 | Waldenstrom Macroglobulinemia | LPL | 4023 | lipoprotein lipase | P06858 |
| C0024419 | Waldenstrom Macroglobulinemia | NCAM1 | 4684 | neural cell adhesion molecule 1 | P13591 |
| C0024419 | Waldenstrom Macroglobulinemia | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C0024419 | Waldenstrom Macroglobulinemia | PLCG2 | 5336 | phospholipase C gamma 2 | P16885 |
| C0024419 | Waldenstrom Macroglobulinemia | CD22 | 933 | CD22 molecule | P20273 |
| C0024419 | Waldenstrom Macroglobulinemia | NAMPT | 10135 | nicotinamide phosphoribosyltransferase | P43490 |
| C0024419 | Waldenstrom Macroglobulinemia | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0024419 | Waldenstrom Macroglobulinemia | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C0024419 | Waldenstrom Macroglobulinemia | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C0024419 | Waldenstrom Macroglobulinemia | SOAT1 | 6646 | sterol O-acyltransferase 1 | P35610 |
| C1847800 | Waardenburg Syndrome Type 1 | ABO | 28 | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | P16442 |
