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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 |
|---|---|---|---|---|---|
| C0036439 | Scoliosis, unspecified | COLEC11 | 78989 | collectin subfamily member 11 | Q9BWP8 |
| C0036439 | Scoliosis, unspecified | PTDSS1 | 9791 | phosphatidylserine synthase 1 | P48651 |
| C0036439 | Scoliosis, unspecified | MTMR2 | 8898 | myotubularin related protein 2 | Q13614 |
| C0036454 | Scotoma | ARSG | 22901 | arylsulfatase G | Q96EG1 |
| C0796149 | Scott Syndrome | ANXA5 | 308 | annexin A5 | P08758 |
| C0036457 | Scrapie | PRNP | 5621 | prion protein | P04156 |
| C0036457 | Scrapie | PRNP | 5621 | prion protein | F7VJQ1 |
| C0423775 | Scurfiness of scalp | CYP51A1 | 1595 | cytochrome P450 family 51 subfamily A member 1 | Q16850 |
| C2748572 | SeSAME syndrome | PI4KB | 5298 | phosphatidylinositol 4-kinase beta | Q9UBF8 |
| C0036489 | Sea-Blue Histiocyte Syndrome | GLB1 | 2720 | galactosidase beta 1 | P16278 |
| C0036489 | Sea-Blue Histiocyte Syndrome | SMPD1 | 6609 | sphingomyelin phosphodiesterase 1 | P17405 |
| C0085159 | Seasonal Affective Disorder | COMT | 1312 | catechol-O-methyltransferase | P21964 |
| C0085159 | Seasonal Affective Disorder | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C0085159 | Seasonal Affective Disorder | GAD1 | 2571 | glutamate decarboxylase 1 | Q99259 |
| C0085159 | Seasonal Affective Disorder | AMY1B | 277 | amylase alpha 1B | P04745 |
| C0085159 | Seasonal Affective Disorder | AMY1A | 276 | amylase alpha 1A | P04745 |
| C0085159 | Seasonal Affective Disorder | AMY1C | 278 | amylase alpha 1C | P04745 |
| C0206684 | Sebaceous Adenocarcinoma | CD44 | 960 | CD44 molecule (Indian blood group) | P16070 |
| C0206684 | Sebaceous Adenocarcinoma | MUTYH | 4595 | mutY DNA glycosylase | Q9UIF7 |
| C0206684 | Sebaceous Adenocarcinoma | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0206684 | Sebaceous Adenocarcinoma | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0036503 | Sebaceous Gland Neoplasms | MRC1 | 4360 | mannose receptor C-type 1 | P22897 |
| C0036508 | Seborrheic dermatitis | COMT | 1312 | catechol-O-methyltransferase | P21964 |
| C0036508 | Seborrheic dermatitis | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0221244 | Seborrheic dermatitis of scalp | CYP51A1 | 1595 | cytochrome P450 family 51 subfamily A member 1 | Q16850 |
