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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 |
|---|---|---|---|---|---|
| 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 |
| C0087012 | Ataxia, Spinocerebellar | PNPLA6 | 10908 | patatin like phospholipase domain containing 6 | Q8IY17 |
| C0239946 | Fibrosis, Liver | PNPLA6 | 10908 | patatin like phospholipase domain containing 6 | Q8IY17 |
| C0154682 | Lateral Sclerosis | PNPLA6 | 10908 | patatin like phospholipase domain containing 6 | Q8IY17 |
| C0022354 | Jaundice, Obstructive | PNPLA6 | 10908 | patatin like phospholipase domain containing 6 | Q8IY17 |
| C0013336 | Dwarfism | PNPLA6 | 10908 | patatin like phospholipase domain containing 6 | Q8IY17 |
| C0751448 | Polyneuropathy, Familial | PNPLA6 | 10908 | patatin like phospholipase domain containing 6 | Q8IY17 |
| C0152427 | Polydactyly | PNPLA6 | 10908 | patatin like phospholipase domain containing 6 | Q8IY17 |
| C0006826 | Malignant Neoplasms | PNPLA6 | 10908 | patatin like phospholipase domain containing 6 | Q8IY17 |
| C0221356 | Brachycephaly | PNPLA6 | 10908 | patatin like phospholipase domain containing 6 | Q8IY17 |
| C0023804 | Lipomatosis, Multiple Symmetrical | PNPLA6 | 10908 | patatin like phospholipase domain containing 6 | Q8IY17 |
| C0015695 | Fatty Liver | PNPLA6 | 10908 | patatin like phospholipase domain containing 6 | Q8IY17 |
| C0018418 | Gynecomastia | PNPLA6 | 10908 | patatin like phospholipase domain containing 6 | Q8IY17 |
| C0521659 | Motor Neuron Disease, Upper | PNPLA6 | 10908 | patatin like phospholipase domain containing 6 | Q8IY17 |
| C0270764 | Motor Neuron Disease, Lower | PNPLA6 | 10908 | patatin like phospholipase domain containing 6 | Q8IY17 |
| C0339527 | Leber Congenital Amaurosis | PNPLA6 | 10908 | patatin like phospholipase domain containing 6 | Q8IY17 |
