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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 |
|---|---|---|---|---|---|
| C0271561 | Somatotropin deficiency | SRD5A3 | 79644 | steroid 5 alpha-reductase 3 | Q9H8P0 |
| C0271561 | Somatotropin deficiency | INPPL1 | 3636 | inositol polyphosphate phosphatase like 1 | O15357 |
| C0271561 | Somatotropin deficiency | AGPAT2 | 10555 | 1-acylglycerol-3-phosphate O-acyltransferase 2 | O15120 |
| C0271561 | Somatotropin deficiency | PNPLA6 | 10908 | patatin like phospholipase domain containing 6 | Q8IY17 |
| C0271561 | Somatotropin deficiency | LPL | 4023 | lipoprotein lipase | P06858 |
| C0271561 | Somatotropin deficiency | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0271561 | Somatotropin deficiency | CYP3A4 | 1576 | cytochrome P450 family 3 subfamily A member 4 | P08684 |
| C0271561 | Somatotropin deficiency | CYP19A1 | 1588 | cytochrome P450 family 19 subfamily A member 1 | P11511 |
| C0242429 | Sore Throat | GALNS | 2588 | galactosamine (N-acetyl)-6-sulfatase | P34059 |
| C0242429 | Sore Throat | CYP2C19 | 1557 | cytochrome P450 family 2 subfamily C member 19 | P33261 |
| C0175695 | Sotos' syndrome | CSPG5 | 10675 | chondroitin sulfate proteoglycan 5 | O95196 |
| C0175695 | Sotos' syndrome | GPC3 | 2719 | glypican 3 | P51654 |
| C0175695 | Sotos' syndrome | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0175695 | Sotos' syndrome | ARSD | 414 | arylsulfatase D | P51689 |
| C0037772 | Spastic Paraplegia | B4GALNT1 | 2583 | beta-1,4-N-acetyl-galactosaminyltransferase 1 | Q00973 |
| C0037772 | Spastic Paraplegia | GALC | 2581 | galactosylceramidase | P54803 |
| C0037772 | Spastic Paraplegia | GBE1 | 2632 | 1,4-alpha-glucan branching enzyme 1 | Q04446 |
| C0037772 | Spastic Paraplegia | GBA2 | 57704 | glucosylceramidase beta 2 | Q9HCG7 |
| C0037772 | Spastic Paraplegia | PNPLA6 | 10908 | patatin like phospholipase domain containing 6 | Q8IY17 |
| C0037772 | Spastic Paraplegia | CYP2U1 | 113612 | cytochrome P450 family 2 subfamily U member 1 | Q7Z449 |
| C0037772 | Spastic Paraplegia | MAG | 4099 | myelin associated glycoprotein | P20916 |
| C0037772 | Spastic Paraplegia | PDHX | 8050 | pyruvate dehydrogenase complex component X | O00330 |
| C0037772 | Spastic Paraplegia | HSD17B6 | 8630 | hydroxysteroid 17-beta dehydrogenase 6 | O14756 |
| C0037772 | Spastic Paraplegia | SLC33A1 | 9197 | solute carrier family 33 member 1 | O00400 |
| C0037772 | Spastic Paraplegia | CYP7B1 | 9420 | cytochrome P450 family 7 subfamily B member 1 | O75881 |
