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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 |
|---|---|---|---|---|---|
| C0036572 | Seizures | DGKE | 8526 | diacylglycerol kinase epsilon | P52429 |
| C0036572 | Seizures | DGKD | 8527 | diacylglycerol kinase delta | Q16760 |
| C0036572 | Seizures | DGCR2 | 9993 | DiGeorge syndrome critical region gene 2 | P98153 |
| C1384406 | Secretory meningioma | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C1318533 | Secondary polycythemia | HPRT1 | 3251 | hypoxanthine phosphoribosyltransferase 1 | P00492 |
| C1318533 | Secondary polycythemia | ACO1 | 48 | aconitase 1 | P21399 |
| C1318533 | Secondary polycythemia | CD177 | 57126 | CD177 molecule | Q8N6Q3 |
| C3665349 | Secondary hypothyroidism | HJV | 148738 | hemojuvelin BMP co-receptor | Q6ZVN8 |
| C3665349 | Secondary hypothyroidism | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C0155616 | Secondary hypertension | SLC33A1 | 9197 | solute carrier family 33 member 1 | O00400 |
| C1282916 | Secondary Raynaud's phenomenon | GAD1 | 2571 | glutamate decarboxylase 1 | Q99259 |
| C1282916 | Secondary Raynaud's phenomenon | CNTN3 | 5067 | contactin 3 | Q9P232 |
| C0022603 | Seborrheic keratosis | LGALS3 | 3958 | galectin 3 | P17931 |
| C0022603 | Seborrheic keratosis | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C0022603 | Seborrheic keratosis | NTHL1 | 4913 | nth like DNA glycosylase 1 | P78549 |
| C0022603 | Seborrheic keratosis | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0022603 | Seborrheic keratosis | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C0022603 | Seborrheic keratosis | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C0221244 | Seborrheic dermatitis of scalp | CYP51A1 | 1595 | cytochrome P450 family 51 subfamily A member 1 | Q16850 |
| C0036508 | Seborrheic dermatitis | COMT | 1312 | catechol-O-methyltransferase | P21964 |
| C0036508 | Seborrheic dermatitis | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0036503 | Sebaceous Gland Neoplasms | MRC1 | 4360 | mannose receptor C-type 1 | P22897 |
| 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 |
