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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 ▲ |
|---|---|---|---|---|---|
| C0020550 | Hyperthyroidism | CS | 1431 | citrate synthase | O75390 |
| C1456418 | Absence of muscle | CS | 1431 | citrate synthase | O75390 |
| C0919267 | ovarian neoplasm | CS | 1431 | citrate synthase | O75390 |
| C0017075 | Ganglioneuroma | CS | 1431 | citrate synthase | O75390 |
| C0011570 | Mental Depression | CS | 1431 | citrate synthase | O75390 |
| C0014118 | Endocarditis | CS | 1431 | citrate synthase | O75390 |
| C0151744 | Myocardial Ischemia | CS | 1431 | citrate synthase | O75390 |
| C0235527 | Heart Failure, Right-Sided | CS | 1431 | citrate synthase | O75390 |
| C0033860 | Psoriasis | CS | 1431 | citrate synthase | O75390 |
| C1866095 | Deafness, Autosomal Dominant 13 | TECTA | 7007 | tectorin alpha | O75443 |
| C1384666 | hearing impairment | TECTA | 7007 | tectorin alpha | O75443 |
| C1857276 | Trichohepatoenteric Syndrome | TECTA | 7007 | tectorin alpha | O75443 |
| C1832187 | Deafness, Autosomal Dominant 12 | TECTA | 7007 | tectorin alpha | O75443 |
| C0339789 | Congenital deafness | TECTA | 7007 | tectorin alpha | O75443 |
| C2020284 | Stickler syndrome, type 1 | TECTA | 7007 | tectorin alpha | O75443 |
| C0018780 | Hearing Loss, High-Frequency | TECTA | 7007 | tectorin alpha | O75443 |
| C0011053 | Deafness | TECTA | 7007 | tectorin alpha | O75443 |
| C0018784 | Sensorineural Hearing Loss (disorder) | TECTA | 7007 | tectorin alpha | O75443 |
| C0019360 | Herpes zoster disease | TECTA | 7007 | tectorin alpha | O75443 |
| C1863655 | Deafness, Autosomal Recessive 21 | TECTA | 7007 | tectorin alpha | O75443 |
| C0006142 | Malignant neoplasm of breast | TECTA | 7007 | tectorin alpha | O75443 |
| C0452138 | Sensorineural hearing loss, bilateral | TECTA | 7007 | tectorin alpha | O75443 |
| C0271514 | Low frequency deafness | TECTA | 7007 | tectorin alpha | O75443 |
| C1838701 | DEAFNESS, AUTOSOMAL RECESSIVE 2 | TECTA | 7007 | tectorin alpha | O75443 |
| C0027877 | Neuronal Ceroid-Lipofuscinoses | CLN5 | 1203 | CLN5 intracellular trafficking protein | O75503 |
