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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 |
|---|---|---|---|---|---|
| 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 |
| C1306459 | Primary malignant neoplasm | PKM | 5315 | pyruvate kinase M1/2 | P14618 |
| C0006826 | Malignant Neoplasms | PKM | 5315 | pyruvate kinase M1/2 | P14618 |
| C0027651 | Neoplasms | PKM | 5315 | pyruvate kinase M1/2 | P14618 |
| C1335302 | Pancreatic Ductal Adenocarcinoma | PKM | 5315 | pyruvate kinase M1/2 | P14618 |
| C0278878 | Adult Glioblastoma | PKM | 5315 | pyruvate kinase M1/2 | P14618 |
| C0699791 | Stomach Carcinoma | PKM | 5315 | pyruvate kinase M1/2 | P14618 |
| C0598608 | Hyperhomocysteinemia | PKM | 5315 | pyruvate kinase M1/2 | P14618 |
| C0600139 | Prostate carcinoma | PKM | 5315 | pyruvate kinase M1/2 | P14618 |
| C1140680 | Malignant neoplasm of ovary | PKM | 5315 | pyruvate kinase M1/2 | P14618 |
| C2239176 | Liver carcinoma | PKM | 5315 | pyruvate kinase M1/2 | P14618 |
| C0279626 | Squamous cell carcinoma of esophagus | PKM | 5315 | pyruvate kinase M1/2 | P14618 |
| C0017636 | Glioblastoma | PKM | 5315 | pyruvate kinase M1/2 | P14618 |
| C0699790 | Colon Carcinoma | PKM | 5315 | pyruvate kinase M1/2 | P14618 |
