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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 |
|---|---|---|---|---|---|
| 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 |
| 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 |
| C0887850 | Polycystic Kidney, Type 1 Autosomal Dominant Disease | PKD1 | 5310 | polycystin 1, transient receptor potential channel interacting | P98161 |
| C0085413 | Polycystic Kidney, Autosomal Dominant | PKD1 | 5310 | polycystin 1, transient receptor potential channel interacting | P98161 |
| C3149841 | POLYCYSTIC KIDNEY DISEASE 1 | PKD1 | 5310 | polycystin 1, transient receptor potential channel interacting | P98161 |
| C3887499 | Renal cyst | PKD1 | 5310 | polycystin 1, transient receptor potential channel interacting | P98161 |
| C0006826 | Malignant Neoplasms | PKD1 | 5310 | polycystin 1, transient receptor potential channel interacting | P98161 |
| C1561643 | Chronic Kidney Diseases | PKD1 | 5310 | polycystin 1, transient receptor potential channel interacting | P98161 |
| C0022680 | Polycystic Kidney Diseases | PKD1 | 5310 | polycystin 1, transient receptor potential channel interacting | P98161 |
| C0027651 | Neoplasms | PKD1 | 5310 | polycystin 1, transient receptor potential channel interacting | P98161 |
| C0585442 | Osteosarcoma of bone | PKD1 | 5310 | polycystin 1, transient receptor potential channel interacting | P98161 |
| C0085548 | Autosomal Recessive Polycystic Kidney Disease | PKD1 | 5310 | polycystin 1, transient receptor potential channel interacting | P98161 |
| C0022658 | Kidney Diseases | PKD1 | 5310 | polycystin 1, transient receptor potential channel interacting | P98161 |
| C0022661 | Kidney Failure, Chronic | PKD1 | 5310 | polycystin 1, transient receptor potential channel interacting | P98161 |
| C0009782 | Connective Tissue Diseases | PKD1 | 5310 | polycystin 1, transient receptor potential channel interacting | P98161 |
