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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 |
|---|---|---|---|---|---|
| C0085650 | Purpura Fulminans | PC | 5091 | pyruvate carboxylase | P11498 |
| C0034150 | Purpura | COMT | 1312 | catechol-O-methyltransferase | P21964 |
| C0034150 | Purpura | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0034150 | Purpura | CALR | 811 | calreticulin | P27797 |
| C0034150 | Purpura | GLUL | 2752 | glutamate-ammonia ligase | P15104 |
| C0034150 | Purpura | CAT | 847 | catalase | P04040 |
| C0268125 | Purine-nucleoside phosphorylase deficiency | PNP | 4860 | purine nucleoside phosphorylase | P00491 |
| C0687149 | Pure gonadal dysgenesis | PGD | 5226 | phosphogluconate dehydrogenase | P52209 |
| C0034902 | Pure Red-Cell Aplasia | ABO | 28 | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | P16442 |
| C0034902 | Pure Red-Cell Aplasia | CD38 | 952 | CD38 molecule | P28907 |
| C0034902 | Pure Red-Cell Aplasia | SULF2 | 55959 | sulfatase 2 | Q8IWU5 |
| C0393911 | Pure Autonomic Failure | PRNP | 5621 | prion protein | P04156 |
| C0393911 | Pure Autonomic Failure | PRNP | 5621 | prion protein | F7VJQ1 |
| C0034103 | Pulpitis | IL1R1 | 3554 | interleukin 1 receptor type 1 | P14778 |
| C0034103 | Pulpitis | SIRT6 | 51548 | sirtuin 6 | Q8N6T7 |
| C0034103 | Pulpitis | IL18R1 | 8809 | interleukin 18 receptor 1 | Q13478 |
| C4551905 | Pulmonary Venous Return Anomaly | LFNG | 3955 | LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase | Q8NES3 |
| C4551905 | Pulmonary Venous Return Anomaly | DHCR24 | 1718 | 24-dehydrocholesterol reductase | Q15392 |
| C0034089 | Pulmonary Valve Stenosis | GALNT1 | 2589 | polypeptide N-acetylgalactosaminyltransferase 1 | Q10472 |
| C0034089 | Pulmonary Valve Stenosis | ARSD | 414 | arylsulfatase D | P51689 |
| C0034088 | Pulmonary Valve Insufficiency | SFTPA1 | 653509 | surfactant protein A1 | Q8IWL2 |
| C0034088 | Pulmonary Valve Insufficiency | SFTPA2 | 729238 | surfactant protein A2 | Q8IWL1 |
| C0034088 | Pulmonary Valve Insufficiency | SFTPC | 6440 | surfactant protein C | P11686 |
| C0524702 | Pulmonary Thromboembolisms | QTRT1 | 81890 | queuine tRNA-ribosyltransferase catalytic subunit 1 | Q9BXR0 |
| C0524702 | Pulmonary Thromboembolisms | DPEP1 | 1800 | dipeptidase 1 | P16444 |
