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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 |
|---|---|---|---|---|---|
| C0398623 | Thrombophilia | SMPD1 | 6609 | sphingomyelin phosphodiesterase 1 | P17405 |
| C0398623 | Thrombophilia | HPSE | 10855 | heparanase | Q9Y251 |
| C0398623 | Thrombophilia | PC | 5091 | pyruvate carboxylase | P11498 |
| C0398623 | Thrombophilia | PPP1R3C | 5507 | protein phosphatase 1 regulatory subunit 3C | Q9UQK1 |
| C0398623 | Thrombophilia | SDC1 | 6382 | syndecan 1 | P18827 |
| C0398623 | Thrombophilia | PPP1R3B | 79660 | protein phosphatase 1 regulatory subunit 3B | Q86XI6 |
| C0398623 | Thrombophilia | CEACAM5 | 1048 | CEA cell adhesion molecule 5 | P06731 |
| C0398623 | Thrombophilia | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C0398623 | Thrombophilia | DLD | 1738 | dihydrolipoamide dehydrogenase | P09622 |
| C0398623 | Thrombophilia | ANXA5 | 308 | annexin A5 | P08758 |
| C0398623 | Thrombophilia | STS | 412 | steroid sulfatase | P08842 |
| C0398623 | Thrombophilia | MBL2 | 4153 | mannose binding lectin 2 | P11226 |
| C0398623 | Thrombophilia | SCD | 6319 | stearoyl-CoA desaturase | O00767 |
| C0398623 | Thrombophilia | SELP | 6403 | selectin P | P16109 |
| C0398623 | Thrombophilia | CEACAM7 | 1087 | CEA cell adhesion molecule 7 | Q14002 |
| C0398623 | Thrombophilia | CYP2C9 | 1559 | cytochrome P450 family 2 subfamily C member 9 | P11712 |
| C0398623 | Thrombophilia | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0396023 | Chronic adenoiditis | FCN2 | 2220 | ficolin 2 | Q15485 |
| C0394006 | Dysequilibrium syndrome | PRKCSH | 5589 | protein kinase C substrate 80K-H | P14314 |
| C0394006 | Dysequilibrium syndrome | ADH1C | 126 | alcohol dehydrogenase 1C (class I), gamma polypeptide | P00326 |
| C0394006 | Dysequilibrium syndrome | HPGDS | 27306 | hematopoietic prostaglandin D synthase | O60760 |
| C0394006 | Dysequilibrium syndrome | PKD2 | 5311 | polycystin 2, transient receptor potential cation channel | Q13563 |
| C0394006 | Dysequilibrium syndrome | SFTPC | 6440 | surfactant protein C | P11686 |
| C0394005 | Ataxic cerebral palsy | CEL | 1056 | carboxyl ester lipase | P19835 |
| C0394005 | Ataxic cerebral palsy | NDUFAB1 | 4706 | NADH:ubiquinone oxidoreductase subunit AB1 | O14561 |
