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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 |
|---|---|---|---|---|---|
| C0027080 | Myoglobinuria | HADHB | 3032 | hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta | P55084 |
| C0027080 | Myoglobinuria | HADH | 3033 | hydroxyacyl-CoA dehydrogenase | Q16836 |
| C0027080 | Myoglobinuria | HADHA | 3030 | hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha | P40939 |
| C1849386 | Myoglobinuria, Acute Recurrent, Autosomal Recessive | LPIN1 | 23175 | lipin 1 | Q14693 |
| C0027086 | Myoma | HPSE | 10855 | heparanase | Q9Y251 |
| C0027086 | Myoma | CYP2B6 | 1555 | cytochrome P450 family 2 subfamily B member 6 | P20813 |
| C0027086 | Myoma | CYP19A1 | 1588 | cytochrome P450 family 19 subfamily A member 1 | P11511 |
| C0282606 | Myomatous neoplasm | FH | 2271 | fumarate hydratase | P07954 |
| C0282606 | Myomatous neoplasm | CDH13 | 1012 | cadherin 13 | P55290 |
| C0206157 | Myopathies, Nemaline | POMT1 | 10585 | protein O-mannosyltransferase 1 | Q9Y6A1 |
| C0206157 | Myopathies, Nemaline | B4GAT1 | 11041 | beta-1,4-glucuronyltransferase 1 | O43505 |
| C0206157 | Myopathies, Nemaline | FKTN | 2218 | fukutin | O75072 |
| C0206157 | Myopathies, Nemaline | POMGNT1 | 55624 | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Q8WZA1 |
| C0206157 | Myopathies, Nemaline | FKRP | 79147 | fukutin related protein | Q9H9S5 |
| C0206157 | Myopathies, Nemaline | LARGE1 | 9215 | LARGE xylosyl- and glucuronyltransferase 1 | O95461 |
| C0206157 | Myopathies, Nemaline | HK1 | 3098 | hexokinase 1 | P19367 |
| C0206157 | Myopathies, Nemaline | CHKB | 1120 | choline kinase beta | Q9Y259 |
| C0206157 | Myopathies, Nemaline | ACHE | 43 | acetylcholinesterase (Cartwright blood group) | P22303 |
| C0026848 | Myopathy | DPAGT1 | 1798 | dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Q9H3H5 |
| C0026848 | Myopathy | CHST14 | 113189 | carbohydrate sulfotransferase 14 | Q8NCH0 |
| C0026848 | Myopathy | B3GALNT2 | 148789 | beta-1,3-N-acetylgalactosaminyltransferase 2 | Q8NCR0 |
| C0026848 | Myopathy | POMT1 | 10585 | protein O-mannosyltransferase 1 | Q9Y6A1 |
| C0026848 | Myopathy | FKTN | 2218 | fukutin | O75072 |
| C0026848 | Myopathy | ALG14 | 199857 | ALG14 UDP-N-acetylglucosaminyltransferase subunit | Q96F25 |
| C0026848 | Myopathy | B4GALT1 | 2683 | beta-1,4-galactosyltransferase 1 | P15291 |
