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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 |
|---|---|---|---|---|---|
| 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 |
| 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 |
| 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 |
| 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 |
| C1263892 | Neoplasm of cauda equina | ACHE | 43 | acetylcholinesterase (Cartwright blood group) | P22303 |
| 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 |
| C1263846 | Attention deficit hyperactivity disorder | ST3GAL3 | 6487 | ST3 beta-galactoside alpha-2,3-sialyltransferase 3 | Q11203 |
| C1263846 | Attention deficit hyperactivity disorder | ALG13 | 79868 | ALG13 UDP-N-acetylglucosaminyltransferase subunit | Q9NP73 |
| C1263846 | Attention deficit hyperactivity disorder | B4GALT2 | 8704 | beta-1,4-galactosyltransferase 2 | O60909 |
| C1263846 | Attention deficit hyperactivity disorder | GNE | 10020 | glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Q9Y223 |
| C1263846 | Attention deficit hyperactivity disorder | AGA | 175 | aspartylglucosaminidase | P20933 |
| C1263846 | Attention deficit hyperactivity disorder | MANBA | 4126 | mannosidase beta | O00462 |
| C1263846 | Attention deficit hyperactivity disorder | SMPD1 | 6609 | sphingomyelin phosphodiesterase 1 | P17405 |
| C1263846 | Attention deficit hyperactivity disorder | GPC6 | 10082 | glypican 6 | Q9Y625 |
