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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 |
|---|---|---|---|---|---|
| C0032131 | Plasmacytoma | SOAT1 | 6646 | sterol O-acyltransferase 1 | P35610 |
| C1136084 | Plasma cell dyscrasia | PSAP | 5660 | prosaposin | P07602 |
| C1136084 | Plasma cell dyscrasia | NCAM1 | 4684 | neural cell adhesion molecule 1 | P13591 |
| C1136084 | Plasma cell dyscrasia | CEACAM6 | 4680 | CEA cell adhesion molecule 6 | P40199 |
| C1959632 | Plasma Cell Neoplasm | PIGA | 5277 | phosphatidylinositol glycan anchor biosynthesis class A | P37287 |
| C1959632 | Plasma Cell Neoplasm | CD38 | 952 | CD38 molecule | P28907 |
| C1959632 | Plasma Cell Neoplasm | LPL | 4023 | lipoprotein lipase | P06858 |
| C1959632 | Plasma Cell Neoplasm | NCAM1 | 4684 | neural cell adhesion molecule 1 | P13591 |
| C1959632 | Plasma Cell Neoplasm | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C2720163 | Placental Steroid Sulfatase Deficiency | IDS | 3423 | iduronate 2-sulfatase | P22304 |
| C2720163 | Placental Steroid Sulfatase Deficiency | SUMF1 | 285362 | sulfatase modifying factor 1 | Q8NBK3 |
| C2720163 | Placental Steroid Sulfatase Deficiency | DHCR7 | 1717 | 7-dehydrocholesterol reductase | Q9UBM7 |
| C2720163 | Placental Steroid Sulfatase Deficiency | STS | 412 | steroid sulfatase | P08842 |
| C0032051 | Placental Insufficiency | ANXA5 | 308 | annexin A5 | P08758 |
| C0032051 | Placental Insufficiency | CYP19A1 | 1588 | cytochrome P450 family 19 subfamily A member 1 | P11511 |
| C0855173 | Placental Choriocarcinoma | STS | 412 | steroid sulfatase | P08842 |
| C0855173 | Placental Choriocarcinoma | CYP19A1 | 1588 | cytochrome P450 family 19 subfamily A member 1 | P11511 |
| C0032045 | Placenta Disorders | PRSS8 | 5652 | serine protease 8 | Q16651 |
| C0032027 | Pityriasis Rubra Pilaris | GAD1 | 2571 | glutamate decarboxylase 1 | Q99259 |
| C0032027 | Pityriasis Rubra Pilaris | CNTN3 | 5067 | contactin 3 | Q9P232 |
| C0032027 | Pityriasis Rubra Pilaris | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C0032027 | Pityriasis Rubra Pilaris | PRNP | 5621 | prion protein | P04156 |
| C0032027 | Pityriasis Rubra Pilaris | CAT | 847 | catalase | P04040 |
| C0032027 | Pityriasis Rubra Pilaris | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0032027 | Pityriasis Rubra Pilaris | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
