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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 |
|---|---|---|---|---|---|
| C0751398 | Familial Olivopontocerebellar Atrophy | CHAT | 1103 | choline O-acetyltransferase | P28329 |
| C1275273 | Familial Multiple Lipomatosis | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0270763 | Familial Motor Neuron Disease | PNPLA6 | 10908 | patatin like phospholipase domain containing 6 | Q8IY17 |
| C0031069 | Familial Mediterranean Fever | GLA | 2717 | galactosidase alpha | P06280 |
| C0031069 | Familial Mediterranean Fever | PRNP | 5621 | prion protein | P04156 |
| C0031069 | Familial Mediterranean Fever | LGALS3 | 3958 | galectin 3 | P17931 |
| C0031069 | Familial Mediterranean Fever | COL9A2 | 1298 | collagen type IX alpha 2 chain | Q14055 |
| C0031069 | Familial Mediterranean Fever | LYZ | 4069 | lysozyme | P61626 |
| C0031069 | Familial Mediterranean Fever | STS | 412 | steroid sulfatase | P08842 |
| C0031069 | Familial Mediterranean Fever | LPIN2 | 9663 | lipin 2 | Q92539 |
| C0031069 | Familial Mediterranean Fever | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C0031069 | Familial Mediterranean Fever | GLO1 | 2739 | glyoxalase I | Q04760 |
| C0031069 | Familial Mediterranean Fever | ABO | 28 | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | P16442 |
| C0031069 | Familial Mediterranean Fever | CHIT1 | 1118 | chitinase 1 | Q13231 |
| C0031069 | Familial Mediterranean Fever | GPX1 | 2876 | glutathione peroxidase 1 | P07203 |
| C0031069 | Familial Mediterranean Fever | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C0031069 | Familial Mediterranean Fever | PRNP | 5621 | prion protein | F7VJQ1 |
| C0031069 | Familial Mediterranean Fever | MICA | 100507436 | MHC class I polypeptide-related sequence A | Q29983 |
| C4721952 | Familial Idiopathic Pulmonary Fibrosis | SFTPC | 6440 | surfactant protein C | P11686 |
| C4721952 | Familial Idiopathic Pulmonary Fibrosis | SFTPA1 | 653509 | surfactant protein A1 | Q8IWL2 |
| C4721952 | Familial Idiopathic Pulmonary Fibrosis | SFTPA2 | 729238 | surfactant protein A2 | Q8IWL1 |
| C3536983 | Familial Hypophosphatemic Rickets | ENPP1 | 5167 | ectonucleotide pyrophosphatase/phosphodiesterase 1 | P22413 |
| C3536983 | Familial Hypophosphatemic Rickets | SLC2A2 | 6514 | solute carrier family 2 member 2 | P11168 |
| C3536983 | Familial Hypophosphatemic Rickets | KL | 9365 | klotho | Q9UEF7 |
| C3536983 | Familial Hypophosphatemic Rickets | CYP27B1 | 1594 | cytochrome P450 family 27 subfamily B member 1 | O15528 |
