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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 |
|---|---|---|---|---|---|
| C0011860 | Diabetes Mellitus, Non-Insulin-Dependent | PKLR | 5313 | pyruvate kinase L/R | P30613 |
| C0018939 | Hematological Disease | PKLR | 5313 | pyruvate kinase L/R | P30613 |
| C0008325 | Cholecystitis | PKLR | 5313 | pyruvate kinase L/R | P30613 |
| C0027651 | Neoplasms | PKLR | 5313 | pyruvate kinase L/R | P30613 |
| C2239176 | Liver carcinoma | PKLR | 5313 | pyruvate kinase L/R | P30613 |
| C0002882 | Anemia, Hemolytic, Congenital Nonspherocytic | PKLR | 5313 | pyruvate kinase L/R | P30613 |
| C0153452 | Malignant neoplasm of gallbladder | PKLR | 5313 | pyruvate kinase L/R | P30613 |
| C0008350 | Cholelithiasis | PKLR | 5313 | pyruvate kinase L/R | P30613 |
| C0678222 | Breast Carcinoma | PKLR | 5313 | pyruvate kinase L/R | P30613 |
| C0011849 | Diabetes Mellitus | PKLR | 5313 | pyruvate kinase L/R | P30613 |
| C0376358 | Malignant neoplasm of prostate | PKLR | 5313 | pyruvate kinase L/R | P30613 |
| C0017205 | Gaucher Disease | PKLR | 5313 | pyruvate kinase L/R | P30613 |
| C0002881 | Anemia, Hemolytic, Congenital | PKLR | 5313 | pyruvate kinase L/R | P30613 |
| C0032461 | Polycythemia | PKLR | 5313 | pyruvate kinase L/R | P30613 |
| C0009404 | Colorectal Neoplasms | PKLR | 5313 | pyruvate kinase L/R | P30613 |
| C0020074 | HSAN Type IV | PKLR | 5313 | pyruvate kinase L/R | P30613 |
| C0009402 | Colorectal Carcinoma | PKLR | 5313 | pyruvate kinase L/R | P30613 |
| C0338508 | Optic Atrophy 1 | PKLR | 5313 | pyruvate kinase L/R | P30613 |
| C0020456 | Hyperglycemia | PKLR | 5313 | pyruvate kinase L/R | P30613 |
| C0020538 | Hypertensive disease | PKD2 | 5311 | polycystin 2, transient receptor potential cation channel | Q13563 |
| C0085413 | Polycystic Kidney, Autosomal Dominant | PKD2 | 5311 | polycystin 2, transient receptor potential cation channel | Q13563 |
| C0022661 | Kidney Failure, Chronic | PKD2 | 5311 | polycystin 2, transient receptor potential cation channel | Q13563 |
| C2751306 | Polycystic kidney disease, type 2 | PKD2 | 5311 | polycystin 2, transient receptor potential cation channel | Q13563 |
| C4552000 | Episodic Kinesigenic Dyskinesia 1 | PKD2 | 5311 | polycystin 2, transient receptor potential cation channel | Q13563 |
| C3887499 | Renal cyst | PKD2 | 5311 | polycystin 2, transient receptor potential cation channel | Q13563 |
