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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 |
|---|---|---|---|---|---|
| C0002871 | Anemia | PI4KA | 5297 | phosphatidylinositol 4-kinase alpha | P42356 |
| C0002871 | Anemia | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0002871 | Anemia | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0002871 | Anemia | SDHA | 6389 | succinate dehydrogenase complex flavoprotein subunit A | P31040 |
| C0002871 | Anemia | SHMT2 | 6472 | serine hydroxymethyltransferase 2 | P34897 |
| C0002871 | Anemia | SOAT1 | 6646 | sterol O-acyltransferase 1 | P35610 |
| C0002871 | Anemia | CRPPA | 729920 | CDP-L-ribitol pyrophosphorylase A | A4D126 |
| C0002736 | Amyotrophic Lateral Sclerosis | SLC35A1 | 10559 | solute carrier family 35 member A1 | P78382 |
| C0002736 | Amyotrophic Lateral Sclerosis | UGCG | 7357 | UDP-glucose ceramide glucosyltransferase | Q16739 |
| C0002736 | Amyotrophic Lateral Sclerosis | ST3GAL3 | 6487 | ST3 beta-galactoside alpha-2,3-sialyltransferase 3 | Q11203 |
| C0002736 | Amyotrophic Lateral Sclerosis | GAL3ST1 | 9514 | galactose-3-O-sulfotransferase 1 | Q99999 |
| C0002736 | Amyotrophic Lateral Sclerosis | CHST2 | 9435 | carbohydrate sulfotransferase 2 | Q9Y4C5 |
| C0002736 | Amyotrophic Lateral Sclerosis | GBA | 2629 | glucosylceramidase beta | P04062 |
| C0002736 | Amyotrophic Lateral Sclerosis | HEXA | 3073 | hexosaminidase subunit alpha | P06865 |
| C0002736 | Amyotrophic Lateral Sclerosis | PSAP | 5660 | prosaposin | P07602 |
| C0002736 | Amyotrophic Lateral Sclerosis | OGA | 10724 | O-GlcNAcase | O60502 |
| C0002736 | Amyotrophic Lateral Sclerosis | CHI3L1 | 1116 | chitinase 3 like 1 | P36222 |
| C0002736 | Amyotrophic Lateral Sclerosis | CHIT1 | 1118 | chitinase 1 | Q13231 |
| C0002736 | Amyotrophic Lateral Sclerosis | CHI3L2 | 1117 | chitinase 3 like 2 | Q15782 |
| C0002736 | Amyotrophic Lateral Sclerosis | PARP1 | 142 | poly(ADP-ribose) polymerase 1 | P09874 |
| C0002736 | Amyotrophic Lateral Sclerosis | CS | 1431 | citrate synthase | O75390 |
| C0002736 | Amyotrophic Lateral Sclerosis | CTBS | 1486 | chitobiase | Q01459 |
| C0002736 | Amyotrophic Lateral Sclerosis | SIRT2 | 22933 | sirtuin 2 | Q8IXJ6 |
| C0002736 | Amyotrophic Lateral Sclerosis | SARM1 | 23098 | sterile alpha and TIR motif containing 1 | Q6SZW1 |
| C0002736 | Amyotrophic Lateral Sclerosis | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
