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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 ▲ |
|---|---|---|---|---|---|
| C0028754 | Obesity | PKD1 | 5310 | polycystin 1, transient receptor potential channel interacting | P98161 |
| C4707243 | Familial thoracic aortic aneurysm and aortic dissection | PKD1 | 5310 | polycystin 1, transient receptor potential channel interacting | P98161 |
| C0027831 | Neurofibromatosis 1 | PKD1 | 5310 | polycystin 1, transient receptor potential channel interacting | P98161 |
| C0162510 | Caroli Disease | PKD1 | 5310 | polycystin 1, transient receptor potential channel interacting | P98161 |
| C0243026 | Sepsis | PKD1 | 5310 | polycystin 1, transient receptor potential channel interacting | P98161 |
| C0010054 | Coronary Arteriosclerosis | PKD1 | 5310 | polycystin 1, transient receptor potential channel interacting | P98161 |
| C0017668 | Focal glomerulosclerosis | PKD1 | 5310 | polycystin 1, transient receptor potential channel interacting | P98161 |
| C0473583 | Nevus elasticus | PKD1 | 5310 | polycystin 1, transient receptor potential channel interacting | P98161 |
| C0234533 | Generalized seizures | PKD1 | 5310 | polycystin 1, transient receptor potential channel interacting | P98161 |
| C0751383 | Juvenile Neuronal Ceroid Lipofuscinosis | PKD1 | 5310 | polycystin 1, transient receptor potential channel interacting | P98161 |
| C0033860 | Psoriasis | PKD1 | 5310 | polycystin 1, transient receptor potential channel interacting | P98161 |
| C0392525 | Nephrolithiasis | PKD1 | 5310 | polycystin 1, transient receptor potential channel interacting | P98161 |
| C3887980 | Protanomaly | PKD1 | 5310 | polycystin 1, transient receptor potential channel interacting | P98161 |
| C0346647 | Malignant neoplasm of pancreas | PKD1 | 5310 | polycystin 1, transient receptor potential channel interacting | P98161 |
| C0021670 | insulinoma | PKD1 | 5310 | polycystin 1, transient receptor potential channel interacting | P98161 |
| C0009402 | Colorectal Carcinoma | PKD1 | 5310 | polycystin 1, transient receptor potential channel interacting | P98161 |
| C0027962 | Melanocytic nevus | PKD1 | 5310 | polycystin 1, transient receptor potential channel interacting | P98161 |
| C0018798 | Congenital Heart Defects | PKD1 | 5310 | polycystin 1, transient receptor potential channel interacting | P98161 |
| C0235974 | Pancreatic carcinoma | PKD1 | 5310 | polycystin 1, transient receptor potential channel interacting | P98161 |
| C0376358 | Malignant neoplasm of prostate | CYP4F8 | 11283 | cytochrome P450 family 4 subfamily F member 8 | P98187 |
| C0027651 | Neoplasms | PLCB2 | 5330 | phospholipase C beta 2 | Q00722 |
| C1458155 | Mammary Neoplasms | PLCB2 | 5330 | phospholipase C beta 2 | Q00722 |
| C0006826 | Malignant Neoplasms | PLCB2 | 5330 | phospholipase C beta 2 | Q00722 |
| C0027051 | Myocardial Infarction | PLCB2 | 5330 | phospholipase C beta 2 | Q00722 |
| C1306459 | Primary malignant neoplasm | PLCB2 | 5330 | phospholipase C beta 2 | Q00722 |
