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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 ▼ |
|---|---|---|---|---|---|
| C0039841 | Thiamine Deficiency | SLC35F3 | 148641 | solute carrier family 35 member F3 | Q8IY50 |
| C0338480 | Common Migraine | PNPLA6 | 10908 | patatin like phospholipase domain containing 6 | Q8IY17 |
| C0038505 | Sturge-Weber Syndrome | PNPLA6 | 10908 | patatin like phospholipase domain containing 6 | Q8IY17 |
| C0271623 | Hypogonadotropic hypogonadism | PNPLA6 | 10908 | patatin like phospholipase domain containing 6 | Q8IY17 |
| C0344315 | Depressed mood | PNPLA6 | 10908 | patatin like phospholipase domain containing 6 | Q8IY17 |
| C1859093 | Chorioretinal Dystrophy, Spinocerebellar Ataxia, and Hypogonadotropic Hypogonadism | PNPLA6 | 10908 | patatin like phospholipase domain containing 6 | Q8IY17 |
| C0035334 | Retinitis Pigmentosa | PNPLA6 | 10908 | patatin like phospholipase domain containing 6 | Q8IY17 |
| C0002170 | Alopecia | PNPLA6 | 10908 | patatin like phospholipase domain containing 6 | Q8IY17 |
| C0028738 | Nystagmus | PNPLA6 | 10908 | patatin like phospholipase domain containing 6 | Q8IY17 |
| C0524851 | Neurodegenerative Disorders | PNPLA6 | 10908 | patatin like phospholipase domain containing 6 | Q8IY17 |
| C0700095 | Central neuroblastoma | PNPLA6 | 10908 | patatin like phospholipase domain containing 6 | Q8IY17 |
| C2677586 | Spastic Paraplegia 39, Autosomal Recessive | PNPLA6 | 10908 | patatin like phospholipase domain containing 6 | Q8IY17 |
| C0027819 | Neuroblastoma | PNPLA6 | 10908 | patatin like phospholipase domain containing 6 | Q8IY17 |
| C0027765 | nervous system disorder | PNPLA6 | 10908 | patatin like phospholipase domain containing 6 | Q8IY17 |
| C0037773 | Spastic Paraplegia, Hereditary | PNPLA6 | 10908 | patatin like phospholipase domain containing 6 | Q8IY17 |
| C0154681 | Anterior Horn Cell Disease | PNPLA6 | 10908 | patatin like phospholipase domain containing 6 | Q8IY17 |
| C1848745 | Oliver-McFarlane syndrome | PNPLA6 | 10908 | patatin like phospholipase domain containing 6 | Q8IY17 |
| C0442874 | Neuropathy | PNPLA6 | 10908 | patatin like phospholipase domain containing 6 | Q8IY17 |
| C0011882 | Diabetic Neuropathies | PNPLA6 | 10908 | patatin like phospholipase domain containing 6 | Q8IY17 |
| C3714756 | Intellectual Disability | PNPLA6 | 10908 | patatin like phospholipase domain containing 6 | Q8IY17 |
| C0020758 | Congenital ichthyosis | PNPLA6 | 10908 | patatin like phospholipase domain containing 6 | Q8IY17 |
| C0011860 | Diabetes Mellitus, Non-Insulin-Dependent | PNPLA6 | 10908 | patatin like phospholipase domain containing 6 | Q8IY17 |
| C0020757 | Ichthyoses | PNPLA6 | 10908 | patatin like phospholipase domain containing 6 | Q8IY17 |
| C0271683 | Polyneuropathy, Motor | PNPLA6 | 10908 | patatin like phospholipase domain containing 6 | Q8IY17 |
| C0917799 | Hypersomnia | PNPLA6 | 10908 | patatin like phospholipase domain containing 6 | Q8IY17 |
