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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 |
|---|---|---|---|---|---|
| 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 |
| C0027868 | Neuromuscular Diseases | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C0027858 | Neuroma | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| 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 |
| C0003892 | Neurogenic arthropathy | DHCR24 | 1718 | 24-dehydrocholesterol reductase | Q15392 |
| C0005697 | Neurogenic Urinary Bladder | ALG1 | 56052 | ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase | Q9BT22 |
| C0005697 | Neurogenic Urinary Bladder | COG5 | 10466 | component of oligomeric golgi complex 5 | Q9UP83 |
| C0005697 | Neurogenic Urinary Bladder | COG7 | 91949 | component of oligomeric golgi complex 7 | P83436 |
| C0005697 | Neurogenic Urinary Bladder | GBE1 | 2632 | 1,4-alpha-glucan branching enzyme 1 | Q04446 |
| C0005697 | Neurogenic Urinary Bladder | ACER3 | 55331 | alkaline ceramidase 3 | Q9NUN7 |
| C0005697 | Neurogenic Urinary Bladder | CD38 | 952 | CD38 molecule | P28907 |
| C0005697 | Neurogenic Urinary Bladder | ELOVL1 | 64834 | ELOVL fatty acid elongase 1 | Q9BW60 |
| C0206729 | Neurofibrosarcoma | G6PD | 2539 | glucose-6-phosphate dehydrogenase | P11413 |
