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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 |
|---|---|---|---|---|---|
| C1263846 | Attention deficit hyperactivity disorder | SDHA | 6389 | succinate dehydrogenase complex flavoprotein subunit A | P31040 |
| C1263858 | Muscular dystrophy congenital, merosin negative | CSPG4 | 1464 | chondroitin sulfate proteoglycan 4 | Q6UVK1 |
| C1263858 | Muscular dystrophy congenital, merosin negative | DCN | 1634 | decorin | P07585 |
| C1263858 | Muscular dystrophy congenital, merosin negative | SOAT1 | 6646 | sterol O-acyltransferase 1 | P35610 |
| C1263892 | Neoplasm of cauda equina | ACHE | 43 | acetylcholinesterase (Cartwright blood group) | P22303 |
| C1263988 | Hemolytic disorder | ABO | 28 | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | P16442 |
| C1263988 | Hemolytic disorder | PIGA | 5277 | phosphatidylinositol glycan anchor biosynthesis class A | P37287 |
| C1263988 | Hemolytic disorder | G6PD | 2539 | glucose-6-phosphate dehydrogenase | P11413 |
| C1263988 | Hemolytic disorder | GPI | 2821 | glucose-6-phosphate isomerase | P06744 |
| C1264039 | von Willebrand Disease, Type 1 | ABO | 28 | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | P16442 |
| C1264039 | von Willebrand Disease, Type 1 | HPSE | 10855 | heparanase | Q9Y251 |
| C1264039 | von Willebrand Disease, Type 1 | BAAT | 570 | bile acid-CoA:amino acid N-acyltransferase | Q14032 |
| C1264041 | von Willebrand Disease, Type 3 | SACM1L | 22908 | SAC1 like phosphatidylinositide phosphatase | Q9NTJ5 |
| C1264041 | von Willebrand Disease, Type 3 | SELP | 6403 | selectin P | P16109 |
| C1264041 | von Willebrand Disease, Type 3 | BAAT | 570 | bile acid-CoA:amino acid N-acyltransferase | Q14032 |
| C1265996 | Large cell neuroendocrine carcinoma | ENO2 | 2026 | enolase 2 | P09104 |
| C1265996 | Large cell neuroendocrine carcinoma | ENO3 | 2027 | enolase 3 | P13929 |
| C1265996 | Large cell neuroendocrine carcinoma | PGK1 | 5230 | phosphoglycerate kinase 1 | P00558 |
| C1265996 | Large cell neuroendocrine carcinoma | KL | 9365 | klotho | Q9UEF7 |
| C1265996 | Large cell neuroendocrine carcinoma | CHGA | 1113 | chromogranin A | P10645 |
| C1265996 | Large cell neuroendocrine carcinoma | NCAM1 | 4684 | neural cell adhesion molecule 1 | P13591 |
| C1265996 | Large cell neuroendocrine carcinoma | SDHD | 6392 | succinate dehydrogenase complex subunit D | O14521 |
| C1265996 | Large cell neuroendocrine carcinoma | IDH2 | 3418 | isocitrate dehydrogenase (NADP(+)) 2 | P48735 |
| C1266005 | Basaloid squamous cell carcinoma | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C1266042 | Chromophobe Renal Cell Carcinoma | FUT4 | 2526 | fucosyltransferase 4 | P22083 |
