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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 ▲ |
|---|---|---|---|---|---|
| C0028756 | Obesity, Morbid | CNTN3 | 5067 | contactin 3 | Q9P232 |
| C1621958 | Glioblastoma Multiforme | CNTN3 | 5067 | contactin 3 | Q9P232 |
| C1704436 | Peripheral Arterial Diseases | CNTN3 | 5067 | contactin 3 | Q9P232 |
| C1306459 | Primary malignant neoplasm | CHPF2 | 54480 | chondroitin polymerizing factor 2 | Q9P2E5 |
| C0006826 | Malignant Neoplasms | CHPF2 | 54480 | chondroitin polymerizing factor 2 | Q9P2E5 |
| C0009402 | Colorectal Carcinoma | CHPF2 | 54480 | chondroitin polymerizing factor 2 | Q9P2E5 |
| C0342782 | Depletion of mitochondrial DNA | SUCLA2 | 8803 | succinate-CoA ligase ADP-forming subunit beta | Q9P2R7 |
| C0002395 | Alzheimer's Disease | SUCLA2 | 8803 | succinate-CoA ligase ADP-forming subunit beta | Q9P2R7 |
| C0023264 | Leigh Disease | SUCLA2 | 8803 | succinate-CoA ligase ADP-forming subunit beta | Q9P2R7 |
| C0268583 | Methylmalonic acidemia | SUCLA2 | 8803 | succinate-CoA ligase ADP-forming subunit beta | Q9P2R7 |
| C0013421 | Dystonia | SUCLA2 | 8803 | succinate-CoA ligase ADP-forming subunit beta | Q9P2R7 |
| C0019348 | Herpes Simplex Infections | SUCLA2 | 8803 | succinate-CoA ligase ADP-forming subunit beta | Q9P2R7 |
| C0393593 | Dystonia Disorders | SUCLA2 | 8803 | succinate-CoA ligase ADP-forming subunit beta | Q9P2R7 |
| C2931891 | Necrotizing encephalopathy, infantile subacute, of Leigh | SUCLA2 | 8803 | succinate-CoA ligase ADP-forming subunit beta | Q9P2R7 |
| C0497327 | Dementia | SUCLA2 | 8803 | succinate-CoA ligase ADP-forming subunit beta | Q9P2R7 |
| C0027765 | nervous system disorder | SUCLA2 | 8803 | succinate-CoA ligase ADP-forming subunit beta | Q9P2R7 |
| C1850597 | Leigh Syndrome Due To Mitochondrial Complex II Deficiency | SUCLA2 | 8803 | succinate-CoA ligase ADP-forming subunit beta | Q9P2R7 |
| C0276496 | Familial Alzheimer Disease (FAD) | SUCLA2 | 8803 | succinate-CoA ligase ADP-forming subunit beta | Q9P2R7 |
| C0027819 | Neuroblastoma | SUCLA2 | 8803 | succinate-CoA ligase ADP-forming subunit beta | Q9P2R7 |
| C1850599 | Leigh Syndrome due to Mitochondrial Complex IV Deficiency | SUCLA2 | 8803 | succinate-CoA ligase ADP-forming subunit beta | Q9P2R7 |
| C0018801 | Heart failure | SUCLA2 | 8803 | succinate-CoA ligase ADP-forming subunit beta | Q9P2R7 |
| C0524851 | Neurodegenerative Disorders | SUCLA2 | 8803 | succinate-CoA ligase ADP-forming subunit beta | Q9P2R7 |
| C1850598 | Leigh Syndrome due to Mitochondrial Complex III Deficiency | SUCLA2 | 8803 | succinate-CoA ligase ADP-forming subunit beta | Q9P2R7 |
| C0019270 | Hernia | SUCLA2 | 8803 | succinate-CoA ligase ADP-forming subunit beta | Q9P2R7 |
| C0038379 | Strabismus | SUCLA2 | 8803 | succinate-CoA ligase ADP-forming subunit beta | Q9P2R7 |
