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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 |
|---|---|---|---|---|---|
| C0394006 | Dysequilibrium syndrome | PKD2 | 5311 | polycystin 2, transient receptor potential cation channel | Q13563 |
| C0018801 | Heart failure | PKD2 | 5311 | polycystin 2, transient receptor potential cation channel | Q13563 |
| C0043194 | Wiskott-Aldrich Syndrome | PKD2 | 5311 | polycystin 2, transient receptor potential cation channel | Q13563 |
| C0340968 | Deficiency of pyruvate kinase | PKLR | 5313 | pyruvate kinase L/R | P30613 |
| C4552000 | Episodic Kinesigenic Dyskinesia 1 | PKLR | 5313 | pyruvate kinase L/R | P30613 |
| C0006142 | Malignant neoplasm of breast | PKLR | 5313 | pyruvate kinase L/R | P30613 |
| C0235782 | Gallbladder Carcinoma | PKLR | 5313 | pyruvate kinase L/R | P30613 |
| C0002871 | Anemia | PKLR | 5313 | pyruvate kinase L/R | P30613 |
| C0023903 | Liver neoplasms | PKLR | 5313 | pyruvate kinase L/R | P30613 |
| C0024121 | Lung Neoplasms | PKLR | 5313 | pyruvate kinase L/R | P30613 |
| C1269683 | Major Depressive Disorder | PKLR | 5313 | pyruvate kinase L/R | P30613 |
| C0002878 | Anemia, Hemolytic | PKLR | 5313 | pyruvate kinase L/R | P30613 |
| C0235974 | Pancreatic carcinoma | PKLR | 5313 | pyruvate kinase L/R | P30613 |
| C0024530 | Malaria | PKLR | 5313 | pyruvate kinase L/R | P30613 |
| C0346647 | Malignant neoplasm of pancreas | PKLR | 5313 | pyruvate kinase L/R | P30613 |
| C4551637 | Erythrocytosis familial, 1 | PKLR | 5313 | pyruvate kinase L/R | P30613 |
| C0011847 | Diabetes | PKLR | 5313 | pyruvate kinase L/R | P30613 |
| C0600139 | Prostate carcinoma | PKLR | 5313 | pyruvate kinase L/R | P30613 |
| 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 |
