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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 |
|---|---|---|---|---|---|
| C0278878 | Adult Glioblastoma | PIP4K2A | 5305 | phosphatidylinositol-5-phosphate 4-kinase type 2 alpha | P48426 |
| 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 |
| C0006142 | Malignant neoplasm of breast | PKD1 | 5310 | polycystin 1, transient receptor potential channel interacting | P98161 |
| C4552000 | Episodic Kinesigenic Dyskinesia 1 | PKD1 | 5310 | polycystin 1, transient receptor potential channel interacting | P98161 |
| C0027877 | Neuronal Ceroid-Lipofuscinoses | PKD1 | 5310 | polycystin 1, transient receptor potential channel interacting | P98161 |
| C0022679 | Cystic kidney | PKD1 | 5310 | polycystin 1, transient receptor potential channel interacting | P98161 |
| C0017636 | Glioblastoma | PKD1 | 5310 | polycystin 1, transient receptor potential channel interacting | P98161 |
| C0241005 | Creatine phosphokinase serum increased | PKD1 | 5310 | polycystin 1, transient receptor potential channel interacting | P98161 |
| C0035078 | Kidney Failure | PKD1 | 5310 | polycystin 1, transient receptor potential channel interacting | P98161 |
| C0041341 | Tuberous Sclerosis | PKD1 | 5310 | polycystin 1, transient receptor potential channel interacting | P98161 |
| C0033847 | Pseudoxanthoma Elasticum | PKD1 | 5310 | polycystin 1, transient receptor potential channel interacting | P98161 |
| C0007194 | Hypertrophic Cardiomyopathy | PKD1 | 5310 | polycystin 1, transient receptor potential channel interacting | P98161 |
| C0155862 | Streptococcal pneumonia | PKD1 | 5310 | polycystin 1, transient receptor potential channel interacting | P98161 |
