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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 ▲ |
|---|---|---|---|---|---|
| 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 |
| C0023801 | Lipomatosis | PNPLA6 | 10908 | patatin like phospholipase domain containing 6 | Q8IY17 |
| C0028754 | Obesity | PNPLA6 | 10908 | patatin like phospholipase domain containing 6 | Q8IY17 |
| C0751449 | Acquired Polyneuropathy | PNPLA6 | 10908 | patatin like phospholipase domain containing 6 | Q8IY17 |
| C1565489 | Renal Insufficiency | PNPLA6 | 10908 | patatin like phospholipase domain containing 6 | Q8IY17 |
| C0034152 | Henoch-Schoenlein Purpura | PNPLA6 | 10908 | patatin like phospholipase domain containing 6 | Q8IY17 |
| C0024117 | Chronic Obstructive Airway Disease | SLC35F3 | 148641 | solute carrier family 35 member F3 | Q8IY50 |
| C0005122 | Beriberi | SLC35F3 | 148641 | solute carrier family 35 member F3 | Q8IY50 |
| C0020538 | Hypertensive disease | SLC35F3 | 148641 | solute carrier family 35 member F3 | Q8IY50 |
| C0023467 | Leukemia, Myelocytic, Acute | SLC35F3 | 148641 | solute carrier family 35 member F3 | Q8IY50 |
| C0007766 | Intracranial Aneurysm | SLC35F3 | 148641 | solute carrier family 35 member F3 | Q8IY50 |
| C0039841 | Thiamine Deficiency | SLC35F3 | 148641 | solute carrier family 35 member F3 | Q8IY50 |
| C0006142 | Malignant neoplasm of breast | COLGALT2 | 23127 | collagen beta(1-O)galactosyltransferase 2 | Q8IYK4 |
| C0002395 | Alzheimer's Disease | COLGALT2 | 23127 | collagen beta(1-O)galactosyltransferase 2 | Q8IYK4 |
