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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 |
|---|---|---|---|---|---|
| C0428791 | Aortic valve calcification | ENPP1 | 5167 | ectonucleotide pyrophosphatase/phosphodiesterase 1 | P22413 |
| C0428791 | Aortic valve calcification | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C0428791 | Aortic valve calcification | ICAM1 | 3383 | intercellular adhesion molecule 1 | P05362 |
| C0428791 | Aortic valve calcification | STS | 412 | steroid sulfatase | P08842 |
| C0428791 | Aortic valve calcification | CD44 | 960 | CD44 molecule (Indian blood group) | P16070 |
| C0427480 | Elliptocytosis found | ACSL4 | 2182 | acyl-CoA synthetase long chain family member 4 | O60488 |
| C0427055 | Facial Paresis | MTM1 | 4534 | myotubularin 1 | Q13496 |
| C0426970 | Spastic Quadriplegia | FUCA1 | 2517 | alpha-L-fucosidase 1 | P04066 |
| C0426970 | Spastic Quadriplegia | GLB1 | 2720 | galactosidase beta 1 | P16278 |
| C0426970 | Spastic Quadriplegia | ARSA | 410 | arylsulfatase A | P15289 |
| C0426970 | Spastic Quadriplegia | GLYCTK | 132158 | glycerate kinase | Q8IVS8 |
| C0426970 | Spastic Quadriplegia | CYB5R3 | 1727 | cytochrome b5 reductase 3 | P00387 |
| C0426970 | Spastic Quadriplegia | COLGALT1 | 79709 | collagen beta(1-O)galactosyltransferase 1 | Q8NBJ5 |
| C0426970 | Spastic Quadriplegia | GAD1 | 2571 | glutamate decarboxylase 1 | Q99259 |
| C0426970 | Spastic Quadriplegia | ELOVL4 | 6785 | ELOVL fatty acid elongase 4 | Q9GZR5 |
| C0426970 | Spastic Quadriplegia | PLA2G6 | 8398 | phospholipase A2 group VI | O60733 |
| C0426970 | Spastic Quadriplegia | PDHX | 8050 | pyruvate dehydrogenase complex component X | O00330 |
| C0426970 | Spastic Quadriplegia | DEGS1 | 8560 | delta 4-desaturase, sphingolipid 1 | O15121 |
| C0426970 | Spastic Quadriplegia | SYNJ1 | 8867 | synaptojanin 1 | O43426 |
| C0426970 | Spastic Quadriplegia | COG2 | 22796 | component of oligomeric golgi complex 2 | Q14746 |
| C0423775 | Scurfiness of scalp | CYP51A1 | 1595 | cytochrome P450 family 51 subfamily A member 1 | Q16850 |
| C0410606 | Cervical Disc Degenerative Disorder | ACAN | 176 | aggrecan | P16112 |
| C0410574 | Synovial Hypertrophy | SCD | 6319 | stearoyl-CoA desaturase | O00767 |
| C0410538 | Pseudoachondroplasia | CANX | 821 | calnexin | P27824 |
| C0410538 | Pseudoachondroplasia | DCN | 1634 | decorin | P07585 |
