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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 |
|---|---|---|---|---|---|
| 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 |
| 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 |
| C0393911 | Pure Autonomic Failure | PRNP | 5621 | prion protein | P04156 |
| C0393911 | Pure Autonomic Failure | PRNP | 5621 | prion protein | F7VJQ1 |
| 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 |
| C0687149 | Pure gonadal dysgenesis | PGD | 5226 | phosphogluconate dehydrogenase | P52209 |
| C0268125 | Purine-nucleoside phosphorylase deficiency | PNP | 4860 | purine nucleoside phosphorylase | P00491 |
| 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 |
| C0085650 | Purpura Fulminans | PC | 5091 | pyruvate carboxylase | P11498 |
| C0034155 | Purpura, Thrombotic Thrombocytopenic | ABO | 28 | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | P16442 |
| C0034155 | Purpura, Thrombotic Thrombocytopenic | PLA2G15 | 23659 | phospholipase A2 group XV | Q8NCC3 |
| C0034155 | Purpura, Thrombotic Thrombocytopenic | CLEC1B | 51266 | C-type lectin domain family 1 member B | Q9P126 |
| C0034155 | Purpura, Thrombotic Thrombocytopenic | ACSS2 | 55902 | acyl-CoA synthetase short chain family member 2 | Q9NR19 |
| C0034155 | Purpura, Thrombotic Thrombocytopenic | CD248 | 57124 | CD248 molecule | Q9HCU0 |
| C0034155 | Purpura, Thrombotic Thrombocytopenic | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0034155 | Purpura, Thrombotic Thrombocytopenic | DGKE | 8526 | diacylglycerol kinase epsilon | P52429 |
