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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 |
|---|---|---|---|---|---|
| C1136382 | Sclerocystic Ovaries | AKR1C3 | 8644 | aldo-keto reductase family 1 member C3 | P42330 |
| C1136382 | Sclerocystic Ovaries | CYP19A1 | 1588 | cytochrome P450 family 19 subfamily A member 1 | P11511 |
| C1136382 | Sclerocystic Ovaries | SFTPC | 6440 | surfactant protein C | P11686 |
| C1136382 | Sclerocystic Ovaries | SRD5A1 | 6715 | steroid 5 alpha-reductase 1 | P18405 |
| C1136249 | Mental Retardation, X-Linked | ATP6AP2 | 10159 | ATPase H+ transporting accessory protein 2 | O75787 |
| C1136249 | Mental Retardation, X-Linked | IL1RAPL1 | 11141 | interleukin 1 receptor accessory protein like 1 | Q9NZN1 |
| C1136249 | Mental Retardation, X-Linked | G6PD | 2539 | glucose-6-phosphate dehydrogenase | P11413 |
| C1136249 | Mental Retardation, X-Linked | IL1RAPL2 | 26280 | interleukin 1 receptor accessory protein like 2 | Q9NP60 |
| C1136249 | Mental Retardation, X-Linked | IL1RAP | 3556 | interleukin 1 receptor accessory protein | Q9NPH3 |
| C1136249 | Mental Retardation, X-Linked | CALR | 811 | calreticulin | P27797 |
| C1136249 | Mental Retardation, X-Linked | IL18RAP | 8807 | interleukin 18 receptor accessory protein | O95256 |
| C1136249 | Mental Retardation, X-Linked | ACSL4 | 2182 | acyl-CoA synthetase long chain family member 4 | O60488 |
| C1136249 | Mental Retardation, X-Linked | STS | 412 | steroid sulfatase | P08842 |
| C1136249 | Mental Retardation, X-Linked | L1CAM | 3897 | L1 cell adhesion molecule | P32004 |
| C1136249 | Mental Retardation, X-Linked | ARSD | 414 | arylsulfatase D | P51689 |
| C1136249 | Mental Retardation, X-Linked | OCRL | 4952 | OCRL inositol polyphosphate-5-phosphatase | Q01968 |
| C1136085 | Monoclonal Gammapathies | HAS1 | 3036 | hyaluronan synthase 1 | Q92839 |
| C1136085 | Monoclonal Gammapathies | SDC1 | 6382 | syndecan 1 | P18827 |
| C1136085 | Monoclonal Gammapathies | CD38 | 952 | CD38 molecule | P28907 |
| C1136085 | Monoclonal Gammapathies | PRSS21 | 10942 | serine protease 21 | Q9Y6M0 |
| C1136085 | Monoclonal Gammapathies | MAG | 4099 | myelin associated glycoprotein | P20916 |
| C1136085 | Monoclonal Gammapathies | NCAM1 | 4684 | neural cell adhesion molecule 1 | P13591 |
| 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 |
