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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 |
|---|---|---|---|---|---|
| C1265996 | Large cell neuroendocrine carcinoma | PGK1 | 5230 | phosphoglycerate kinase 1 | P00558 |
| C1458155 | Mammary Neoplasms | PGK1 | 5230 | phosphoglycerate kinase 1 | P00558 |
| C0043194 | Wiskott-Aldrich Syndrome | PGK1 | 5230 | phosphoglycerate kinase 1 | P00558 |
| C0006826 | Malignant Neoplasms | PGD | 5226 | phosphogluconate dehydrogenase | P52209 |
| C0025958 | Microcephaly | PGD | 5226 | phosphogluconate dehydrogenase | P52209 |
| C0206661 | Gonadoblastoma | PGD | 5226 | phosphogluconate dehydrogenase | P52209 |
| C0010674 | Cystic Fibrosis | PGD | 5226 | phosphogluconate dehydrogenase | P52209 |
| C4048328 | cervical cancer | PGD | 5226 | phosphogluconate dehydrogenase | P52209 |
| C0000768 | Congenital Abnormality | PGD | 5226 | phosphogluconate dehydrogenase | P52209 |
| C0018055 | Gonadal Dysgenesis, Mixed | PGD | 5226 | phosphogluconate dehydrogenase | P52209 |
| C0279626 | Squamous cell carcinoma of esophagus | PGD | 5226 | phosphogluconate dehydrogenase | P52209 |
| C0936016 | Testicular Feminization | PGD | 5226 | phosphogluconate dehydrogenase | P52209 |
| C0016667 | Fragile X Syndrome | PGD | 5226 | phosphogluconate dehydrogenase | P52209 |
| C0152018 | Esophageal carcinoma | PGD | 5226 | phosphogluconate dehydrogenase | P52209 |
| C0023418 | leukemia | PGD | 5226 | phosphogluconate dehydrogenase | P52209 |
| C0004096 | Asthma | PGD | 5226 | phosphogluconate dehydrogenase | P52209 |
| C0027126 | Myotonic Dystrophy | PGD | 5226 | phosphogluconate dehydrogenase | P52209 |
| C0525045 | Mood Disorders | PGD | 5226 | phosphogluconate dehydrogenase | P52209 |
| C0007137 | Squamous cell carcinoma | PGD | 5226 | phosphogluconate dehydrogenase | P52209 |
| C2936694 | Swyer Syndrome | PGD | 5226 | phosphogluconate dehydrogenase | P52209 |
| C1846357 | Meckel syndrome type 3 | PGD | 5226 | phosphogluconate dehydrogenase | P52209 |
| C0302592 | Cervix carcinoma | PGD | 5226 | phosphogluconate dehydrogenase | P52209 |
| C0266362 | Ambiguous Genitalia | PGD | 5226 | phosphogluconate dehydrogenase | P52209 |
| C0007847 | Malignant tumor of cervix | PGD | 5226 | phosphogluconate dehydrogenase | P52209 |
| C0027651 | Neoplasms | PGD | 5226 | phosphogluconate dehydrogenase | P52209 |
