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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 |
|---|---|---|---|---|---|
| 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 |
| C0600139 | Prostate carcinoma | PKD1L3 | 342372 | polycystin 1 like 3, transient receptor potential channel interacting | Q7Z443 |
| C4552000 | Episodic Kinesigenic Dyskinesia 1 | PKD1L3 | 342372 | polycystin 1 like 3, transient receptor potential channel interacting | Q7Z443 |
| C0038454 | Cerebrovascular accident | PKD1L3 | 342372 | polycystin 1 like 3, transient receptor potential channel interacting | Q7Z443 |
| C0022680 | Polycystic Kidney Diseases | PKD1L3 | 342372 | polycystin 1 like 3, transient receptor potential channel interacting | Q7Z443 |
| C0009402 | Colorectal Carcinoma | PKD1L2 | 114780 | polycystin 1 like 2 (gene/pseudogene) | Q7Z442 |
| C3280795 | HYPOPLASTIC LEFT HEART SYNDROME 2 | PKD1L2 | 114780 | polycystin 1 like 2 (gene/pseudogene) | Q7Z442 |
| C0022680 | Polycystic Kidney Diseases | PKD1L2 | 114780 | polycystin 1 like 2 (gene/pseudogene) | Q7Z442 |
| C4551854 | HYPOPLASTIC LEFT HEART SYNDROME 1 | PKD1L2 | 114780 | polycystin 1 like 2 (gene/pseudogene) | Q7Z442 |
| C0027868 | Neuromuscular Diseases | PKD1L2 | 114780 | polycystin 1 like 2 (gene/pseudogene) | Q7Z442 |
| C0026848 | Myopathy | PKD1L2 | 114780 | polycystin 1 like 2 (gene/pseudogene) | Q7Z442 |
| C0079744 | Diffuse Large B-Cell Lymphoma | PARP9 | 83666 | poly(ADP-ribose) polymerase family member 9 | Q8IXQ6 |
| C0003125 | Anorexia Nervosa | PARP9 | 83666 | poly(ADP-ribose) polymerase family member 9 | Q8IXQ6 |
| C0032285 | Pneumonia | PARP9 | 83666 | poly(ADP-ribose) polymerase family member 9 | Q8IXQ6 |
| C0036202 | Sarcoidosis | PARP9 | 83666 | poly(ADP-ribose) polymerase family member 9 | Q8IXQ6 |
| C0338831 | Manic | PARP9 | 83666 | poly(ADP-ribose) polymerase family member 9 | Q8IXQ6 |
| C0004623 | Bacterial Infections | PARP9 | 83666 | poly(ADP-ribose) polymerase family member 9 | Q8IXQ6 |
| C1306459 | Primary malignant neoplasm | PARP9 | 83666 | poly(ADP-ribose) polymerase family member 9 | Q8IXQ6 |
| C0013146 | Drug abuse | PARP9 | 83666 | poly(ADP-ribose) polymerase family member 9 | Q8IXQ6 |
| C0034068 | Pulmonary Eosinophilia | PARP9 | 83666 | poly(ADP-ribose) polymerase family member 9 | Q8IXQ6 |
| C4551686 | Malignant neoplasm of soft tissue | PARP9 | 83666 | poly(ADP-ribose) polymerase family member 9 | Q8IXQ6 |
