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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 |
|---|---|---|---|---|---|
| C0032580 | Adenomatous Polyposis Coli | RPIA | 22934 | ribose 5-phosphate isomerase A | P49247 |
| C0699790 | Colon Carcinoma | RPIA | 22934 | ribose 5-phosphate isomerase A | P49247 |
| C0040136 | Thyroid Neoplasm | RPIA | 22934 | ribose 5-phosphate isomerase A | P49247 |
| C0520966 | Abnormal coordination | RPIA | 22934 | ribose 5-phosphate isomerase A | P49247 |
| C0029124 | Optic Atrophy | RPIA | 22934 | ribose 5-phosphate isomerase A | P49247 |
| C0238463 | Papillary thyroid carcinoma | RPIA | 22934 | ribose 5-phosphate isomerase A | P49247 |
| C0007102 | Malignant tumor of colon | RPIA | 22934 | ribose 5-phosphate isomerase A | P49247 |
| C0036572 | Seizures | RPIA | 22934 | ribose 5-phosphate isomerase A | P49247 |
| C0242383 | Age related macular degeneration | RPE | 6120 | ribulose-5-phosphate-3-epimerase | Q96AT9 |
| C0024441 | Macular Holes | RPE | 6120 | ribulose-5-phosphate-3-epimerase | Q96AT9 |
| C2239176 | Liver carcinoma | RPE | 6120 | ribulose-5-phosphate-3-epimerase | Q96AT9 |
| C0017921 | Glycogen storage disease type II | RPE | 6120 | ribulose-5-phosphate-3-epimerase | Q96AT9 |
| C0011884 | Diabetic Retinopathy | RPE | 6120 | ribulose-5-phosphate-3-epimerase | Q96AT9 |
| C0854723 | Retinal Dystrophies | RPE | 6120 | ribulose-5-phosphate-3-epimerase | Q96AT9 |
| C0008525 | Choroideremia | RPE | 6120 | ribulose-5-phosphate-3-epimerase | Q96AT9 |
| C1850938 | FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY | RPE | 6120 | ribulose-5-phosphate-3-epimerase | Q96AT9 |
| C0456909 | Blindness | RPE | 6120 | ribulose-5-phosphate-3-epimerase | Q96AT9 |
| C2931258 | Amaurosis congenita of Leber, type 1 | RPE | 6120 | ribulose-5-phosphate-3-epimerase | Q96AT9 |
| C0410422 | Chronic multifocal osteomyelitis | RPE | 6120 | ribulose-5-phosphate-3-epimerase | Q96AT9 |
| C0006826 | Malignant Neoplasms | RPE | 6120 | ribulose-5-phosphate-3-epimerase | Q96AT9 |
| C0007102 | Malignant tumor of colon | RPE | 6120 | ribulose-5-phosphate-3-epimerase | Q96AT9 |
| C0154856 | Retinal lattice degeneration | RPE | 6120 | ribulose-5-phosphate-3-epimerase | Q96AT9 |
| C1306459 | Primary malignant neoplasm | RPE | 6120 | ribulose-5-phosphate-3-epimerase | Q96AT9 |
| C0730285 | Diabetic macular edema | RPE | 6120 | ribulose-5-phosphate-3-epimerase | Q96AT9 |
| C0035309 | Retinal Diseases | RPE | 6120 | ribulose-5-phosphate-3-epimerase | Q96AT9 |
