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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 |
|---|---|---|---|---|---|
| C0002736 | Amyotrophic Lateral Sclerosis | PDIA3 | 2923 | protein disulfide isomerase family A member 3 | P30101 |
| C0002736 | Amyotrophic Lateral Sclerosis | HADHA | 3030 | hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha | P40939 |
| C0002736 | Amyotrophic Lateral Sclerosis | INPP5B | 3633 | inositol polyphosphate-5-phosphatase B | P32019 |
| C0002736 | Amyotrophic Lateral Sclerosis | CEACAM6 | 4680 | CEA cell adhesion molecule 6 | P40199 |
| C0002736 | Amyotrophic Lateral Sclerosis | PLCD1 | 5333 | phospholipase C delta 1 | P51178 |
| C0002736 | Amyotrophic Lateral Sclerosis | PRNP | 5621 | prion protein | F7VJQ1 |
| C0002736 | Amyotrophic Lateral Sclerosis | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0002736 | Amyotrophic Lateral Sclerosis | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0002736 | Amyotrophic Lateral Sclerosis | SOAT1 | 6646 | sterol O-acyltransferase 1 | P35610 |
| C0002736 | Amyotrophic Lateral Sclerosis | SULT1E1 | 6783 | sulfotransferase family 1E member 1 | P49888 |
| C0002736 | Amyotrophic Lateral Sclerosis | PCYT1B | 9468 | phosphate cytidylyltransferase 1, choline, beta | Q9Y5K3 |
| C0002871 | Anemia | B3GLCT | 145173 | beta 3-glucosyltransferase | Q6Y288 |
| C0002871 | Anemia | EXT2 | 2132 | exostosin glycosyltransferase 2 | Q93063 |
| C0002871 | Anemia | FUT3 | 2525 | fucosyltransferase 3 (Lewis blood group) | P21217 |
| C0002871 | Anemia | FUT2 | 2524 | fucosyltransferase 2 | Q10981 |
| C0002871 | Anemia | FUT1 | 2523 | fucosyltransferase 1 (H blood group) | P19526 |
| C0002871 | Anemia | ABO | 28 | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | P16442 |
| C0002871 | Anemia | UGCG | 7357 | UDP-glucose ceramide glucosyltransferase | Q16739 |
| C0002871 | Anemia | ALG8 | 79053 | ALG8 alpha-1,3-glucosyltransferase | Q9BVK2 |
| C0002871 | Anemia | GBA | 2629 | glucosylceramidase beta | P04062 |
| C0002871 | Anemia | GLA | 2717 | galactosidase alpha | P06280 |
| C0002871 | Anemia | LIPA | 3988 | lipase A, lysosomal acid type | P38571 |
| C0002871 | Anemia | IDUA | 3425 | alpha-L-iduronidase | P35475 |
| C0002871 | Anemia | ARSA | 410 | arylsulfatase A | P15289 |
| C0002871 | Anemia | PSAP | 5660 | prosaposin | P07602 |
