| Gene | Associated with CHILBLAIN LUPUS in | Link to HGNC | Cytogenetic band | Number of associated diseases | Associated diseases |
|---|---|---|---|---|---|
| TREX1 | ClinVar, OMIM, HUMSAVAR | HGNC link | 3p21.31 | 4 | PS225750, 192315, PS610448, 152700 |
| SAMHD1 | ClinVar, OMIM, HUMSAVAR | HGNC link | 20q11.23 | 2 | PS610448, PS225750 |
Download the disease annotation in CSV format
| REACTOME term | REACTOME term ID | IC | Number of genes with the same term | Genes |
|---|---|---|---|---|
| Immune System | R-HSA-168256 | 2.37 | 2 | SAMHD1, TREX1 |
| GO | IC | Number of genes with the same GO | Genes |
|---|---|---|---|
| cation binding (GO:0043169) | 1.4 | 2 | SAMHD1, TREX1 |
| protein binding (GO:0005515) | 0.46 | 2 | SAMHD1, TREX1 |
| hydrolase activity (GO:0016787) | 1.9 | 2 | SAMHD1, TREX1 |
| organic cyclic compound binding (GO:0097159) | 1.05 | 2 | SAMHD1, TREX1 |
| hydrolase activity, acting on ester bonds (GO:0016788) | 3.1 | 2 | SAMHD1, TREX1 |
| ion binding (GO:0043167) | 1.36 | 2 | SAMHD1, TREX1 |
| catalytic activity (GO:0003824) | 1.05 | 2 | SAMHD1, TREX1 |
| binding (GO:0005488) | 0.18 | 2 | SAMHD1, TREX1 |
| nucleic acid binding (GO:0003676) | 1.44 | 2 | SAMHD1, TREX1 |
| metal ion binding (GO:0046872) | 1.41 | 2 | SAMHD1, TREX1 |
| heterocyclic compound binding (GO:1901363) | 1.06 | 2 | SAMHD1, TREX1 |
| Term | New enriched term | IC | P value | Genes |
|---|---|---|---|---|
| purine deoxyribonucleotide binding (GO:0032554) | NEW | 8.13 | 0.0 | SAMHD1, TREX1 |
| deoxyribonucleotide binding (GO:0032552) | NEW | 7.95 | 0.0 | SAMHD1, TREX1 |
| GO | IC | Number of genes with the same GO | Genes |
|---|---|---|---|
| intracellular membrane-bounded organelle (GO:0043231) | 0.6 | 2 | SAMHD1, TREX1 |
| nucleus (GO:0005634) | 1.07 | 2 | SAMHD1, TREX1 |
| membrane (GO:0016020) | 0.68 | 2 | SAMHD1, TREX1 |
| cell part (GO:0044464) | 0.11 | 2 | SAMHD1, TREX1 |
| intracellular organelle part (GO:0044446) | 0.81 | 2 | SAMHD1, TREX1 |
| intracellular organelle (GO:0043229) | 0.51 | 2 | SAMHD1, TREX1 |
| nuclear part (GO:0044428) | 1.55 | 2 | SAMHD1, TREX1 |
| intracellular part (GO:0044424) | 0.28 | 2 | SAMHD1, TREX1 |
| membrane-bounded organelle (GO:0043227) | 0.47 | 2 | SAMHD1, TREX1 |
| organelle (GO:0043226) | 0.4 | 2 | SAMHD1, TREX1 |
| organelle part (GO:0044422) | 0.79 | 2 | SAMHD1, TREX1 |