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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 |
|---|---|---|---|---|---|
| C0751602 | Hereditary Autosomal Dominant Spastic Paraplegia | PNPLA6 | 10908 | patatin like phospholipase domain containing 6 | Q8IY17 |
| C1306459 | Primary malignant neoplasm | PNPLA6 | 10908 | patatin like phospholipase domain containing 6 | Q8IY17 |
| C0014544 | Epilepsy | PNPLA6 | 10908 | patatin like phospholipase domain containing 6 | Q8IY17 |
| C0020619 | Hypogonadism | PNPLA6 | 10908 | patatin like phospholipase domain containing 6 | Q8IY17 |
| C0007758 | Cerebellar Ataxia | PNPLA6 | 10908 | patatin like phospholipase domain containing 6 | Q8IY17 |
| C0271093 | Stargardt's disease | PNPLA6 | 10908 | patatin like phospholipase domain containing 6 | Q8IY17 |
| C0042769 | Virus Diseases | PNPLA6 | 10908 | patatin like phospholipase domain containing 6 | Q8IY17 |
| C0393559 | Troyer syndrome | PNPLA6 | 10908 | patatin like phospholipase domain containing 6 | Q8IY17 |
| C0038379 | Strabismus | PNPLA6 | 10908 | patatin like phospholipase domain containing 6 | Q8IY17 |
| C2711227 | Steatohepatitis | PNPLA6 | 10908 | patatin like phospholipase domain containing 6 | Q8IY17 |
| C0497327 | Dementia | PNPLA6 | 10908 | patatin like phospholipase domain containing 6 | Q8IY17 |
| C0086543 | Cataract | PNPLA6 | 10908 | patatin like phospholipase domain containing 6 | Q8IY17 |
| C0037822 | Speech Disorders | PNPLA6 | 10908 | patatin like phospholipase domain containing 6 | Q8IY17 |
| C0152025 | Polyneuropathy | PNPLA6 | 10908 | patatin like phospholipase domain containing 6 | Q8IY17 |
| C0456909 | Blindness | PNPLA6 | 10908 | patatin like phospholipase domain containing 6 | Q8IY17 |
| C0018784 | Sensorineural Hearing Loss (disorder) | PNPLA6 | 10908 | patatin like phospholipase domain containing 6 | Q8IY17 |
| C0011581 | Depressive disorder | PNPLA6 | 10908 | patatin like phospholipase domain containing 6 | Q8IY17 |
| C0393851 | Polyneuropathy, Critical Illness | PNPLA6 | 10908 | patatin like phospholipase domain containing 6 | Q8IY17 |
| C4721916 | HMSN Type V | PNPLA6 | 10908 | patatin like phospholipase domain containing 6 | Q8IY17 |
| C0266551 | Congenital coloboma of iris | PNPLA6 | 10908 | patatin like phospholipase domain containing 6 | Q8IY17 |
| C0035304 | Retinal Degeneration | PNPLA6 | 10908 | patatin like phospholipase domain containing 6 | Q8IY17 |
| C0023138 | Laurence-Moon Syndrome | PNPLA6 | 10908 | patatin like phospholipase domain containing 6 | Q8IY17 |
| C0025362 | Mental Retardation | PNPLA6 | 10908 | patatin like phospholipase domain containing 6 | Q8IY17 |
| C0010417 | Cryptorchidism | PNPLA6 | 10908 | patatin like phospholipase domain containing 6 | Q8IY17 |
| C0271561 | Somatotropin deficiency | PNPLA6 | 10908 | patatin like phospholipase domain containing 6 | Q8IY17 |
