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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 |
|---|---|---|---|---|---|
| C0005697 | Neurogenic Urinary Bladder | ELOVL1 | 64834 | ELOVL fatty acid elongase 1 | Q9BW60 |
| C0003892 | Neurogenic arthropathy | DHCR24 | 1718 | 24-dehydrocholesterol reductase | Q15392 |
| C0027849 | Neuroleptic Malignant Syndrome | CPT2 | 1376 | carnitine palmitoyltransferase 2 | P23786 |
| C0027849 | Neuroleptic Malignant Syndrome | PIK3C2A | 5286 | phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha | O00443 |
| C0027849 | Neuroleptic Malignant Syndrome | RENBP | 5973 | renin binding protein | P51606 |
| C0027858 | Neuroma | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0027868 | Neuromuscular Diseases | POMT1 | 10585 | protein O-mannosyltransferase 1 | Q9Y6A1 |
| C0027868 | Neuromuscular Diseases | FKRP | 79147 | fukutin related protein | Q9H9S5 |
| C0027868 | Neuromuscular Diseases | GNE | 10020 | glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Q9Y223 |
| C0027868 | Neuromuscular Diseases | GAA | 2548 | glucosidase alpha, acid | P10253 |
| C0027868 | Neuromuscular Diseases | GFPT1 | 2673 | glutamine--fructose-6-phosphate transaminase 1 | Q06210 |
| C0027868 | Neuromuscular Diseases | APRT | 353 | adenine phosphoribosyltransferase | P07741 |
| C0027868 | Neuromuscular Diseases | CHAT | 1103 | choline O-acetyltransferase | P28329 |
| C0027868 | Neuromuscular Diseases | PKD1L2 | 114780 | polycystin 1 like 2 (gene/pseudogene) | Q7Z442 |
| C0027868 | Neuromuscular Diseases | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C0027868 | Neuromuscular Diseases | ACSL4 | 2182 | acyl-CoA synthetase long chain family member 4 | O60488 |
| C0027868 | Neuromuscular Diseases | MAG | 4099 | myelin associated glycoprotein | P20916 |
| C0027868 | Neuromuscular Diseases | ACHE | 43 | acetylcholinesterase (Cartwright blood group) | P22303 |
| C0027868 | Neuromuscular Diseases | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C0027868 | Neuromuscular Diseases | PTGS1 | 5742 | prostaglandin-endoperoxide synthase 1 | P23219 |
| C0027868 | Neuromuscular Diseases | MGAM | 8972 | maltase-glucoamylase | O43451 |
| C0027868 | Neuromuscular Diseases | DAG1 | 1605 | dystroglycan 1 | Q14118 |
| C0027868 | Neuromuscular Diseases | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0027868 | Neuromuscular Diseases | TPI1 | 7167 | triosephosphate isomerase 1 | P60174 |
| C0027868 | Neuromuscular Diseases | MTM1 | 4534 | myotubularin 1 | Q13496 |
