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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 |
|---|---|---|---|---|---|
| C1853230 | Aphakia, congenital primary | CYP4F3 | 4051 | cytochrome P450 family 4 subfamily F member 3 | Q08477 |
| C0003537 | Aphasia | CPM | 1368 | carboxypeptidase M | P14384 |
| C0003537 | Aphasia | PRNP | 5621 | prion protein | P04156 |
| C0003537 | Aphasia | L1CAM | 3897 | L1 cell adhesion molecule | P32004 |
| C0003537 | Aphasia | PRNP | 5621 | prion protein | F7VJQ1 |
| C0282160 | Aplasia Cutis Congenita | B3GAT1 | 27087 | beta-1,3-glucuronyltransferase 1 | Q9P2W7 |
| C0282160 | Aplasia Cutis Congenita | EOGT | 285203 | EGF domain specific O-linked N-acetylglucosamine transferase | Q5NDL2 |
| C0282160 | Aplasia Cutis Congenita | GAA | 2548 | glucosidase alpha, acid | P10253 |
| C0282160 | Aplasia Cutis Congenita | GUSB | 2990 | glucuronidase beta | P08236 |
| C0282160 | Aplasia Cutis Congenita | ARSA | 410 | arylsulfatase A | P15289 |
| C0282160 | Aplasia Cutis Congenita | NAGLU | 4669 | N-acetyl-alpha-glucosaminidase | P54802 |
| C0282160 | Aplasia Cutis Congenita | NAGA | 4668 | alpha-N-acetylgalactosaminidase | P17050 |
| C0282160 | Aplasia Cutis Congenita | CTBS | 1486 | chitobiase | Q01459 |
| C0282160 | Aplasia Cutis Congenita | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0282160 | Aplasia Cutis Congenita | IGF2R | 3482 | insulin like growth factor 2 receptor | P11717 |
| C0282160 | Aplasia Cutis Congenita | SIRT6 | 51548 | sirtuin 6 | Q8N6T7 |
| C0282160 | Aplasia Cutis Congenita | ACOT7 | 11332 | acyl-CoA thioesterase 7 | O00154 |
| C0282160 | Aplasia Cutis Congenita | VCAN | 1462 | versican | P13611 |
| C0282160 | Aplasia Cutis Congenita | CYP17A1 | 1586 | cytochrome P450 family 17 subfamily A member 1 | P05093 |
| C0282160 | Aplasia Cutis Congenita | ALOX15B | 247 | arachidonate 15-lipoxygenase type B | O15296 |
| C0282160 | Aplasia Cutis Congenita | ACACB | 32 | acetyl-CoA carboxylase beta | O00763 |
| C0282160 | Aplasia Cutis Congenita | MRC1 | 4360 | mannose receptor C-type 1 | P22897 |
| C0282160 | Aplasia Cutis Congenita | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C0282160 | Aplasia Cutis Congenita | SDHB | 6390 | succinate dehydrogenase complex iron sulfur subunit B | P21912 |
| C0282160 | Aplasia Cutis Congenita | SPHK1 | 8877 | sphingosine kinase 1 | Q9NYA1 |
