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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 |
|---|---|---|---|---|---|
| C0020179 | Huntington Disease | PPT1 | 5538 | palmitoyl-protein thioesterase 1 | P50897 |
| C0027066 | Myoclonus | PPT1 | 5538 | palmitoyl-protein thioesterase 1 | P50897 |
| C4721806 | Carcinoma, Basal Cell | PPT1 | 5538 | palmitoyl-protein thioesterase 1 | P50897 |
| C0022602 | Actinic keratosis | PPT1 | 5538 | palmitoyl-protein thioesterase 1 | P50897 |
| C0002395 | Alzheimer's Disease | PPT1 | 5538 | palmitoyl-protein thioesterase 1 | P50897 |
| C0024809 | Marijuana Abuse | PPT1 | 5538 | palmitoyl-protein thioesterase 1 | P50897 |
| C0007131 | Non-Small Cell Lung Carcinoma | PPT1 | 5538 | palmitoyl-protein thioesterase 1 | P50897 |
| C0018801 | Heart failure | PPT1 | 5538 | palmitoyl-protein thioesterase 1 | P50897 |
| C0026769 | Multiple Sclerosis | CSGALNACT2 | 55454 | chondroitin sulfate N-acetylgalactosaminyltransferase 2 | Q8N6G5 |
| C0003850 | Arteriosclerosis | CSGALNACT2 | 55454 | chondroitin sulfate N-acetylgalactosaminyltransferase 2 | Q8N6G5 |
| C0019569 | Hirschsprung Disease | CSGALNACT2 | 55454 | chondroitin sulfate N-acetylgalactosaminyltransferase 2 | Q8N6G5 |
| C0036631 | Seminoma | ETNK1 | 55500 | ethanolamine kinase 1 | Q9HBU6 |
| C1540912 | Hypereosinophilic syndrome | ETNK1 | 55500 | ethanolamine kinase 1 | Q9HBU6 |
| C1292772 | Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative | ETNK1 | 55500 | ethanolamine kinase 1 | Q9HBU6 |
| C0221013 | Mastocytosis, Systemic | ETNK1 | 55500 | ethanolamine kinase 1 | Q9HBU6 |
| C0349639 | Juvenile Myelomonocytic Leukemia | ETNK1 | 55500 | ethanolamine kinase 1 | Q9HBU6 |
| C0023480 | Leukemia, Myelomonocytic, Chronic | ETNK1 | 55500 | ethanolamine kinase 1 | Q9HBU6 |
| C0027651 | Neoplasms | ETNK1 | 55500 | ethanolamine kinase 1 | Q9HBU6 |
| C0014457 | Eosinophilia | ETNK1 | 55500 | ethanolamine kinase 1 | Q9HBU6 |
| C0024141 | Lupus Erythematosus, Systemic | CHST12 | 55501 | carbohydrate sulfotransferase 12 | Q9NRB3 |
| C0024138 | Lupus Erythematosus, Discoid | CHST12 | 55501 | carbohydrate sulfotransferase 12 | Q9NRB3 |
| C0409974 | Lupus Erythematosus | CHST12 | 55501 | carbohydrate sulfotransferase 12 | Q9NRB3 |
| C0007222 | Cardiovascular Diseases | SLC35E3 | 55508 | solute carrier family 35 member E3 | Q7Z769 |
| C0027651 | Neoplasms | SMPD3 | 55512 | sphingomyelin phosphodiesterase 3 | Q9NY59 |
| C0013336 | Dwarfism | SMPD3 | 55512 | sphingomyelin phosphodiesterase 3 | Q9NY59 |
