| Disease ID | Disease name | Source of annotation with RAG1 | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| 603554 | OMENN SYNDROME | OMIM, HUMSAVAR | link to OMIM | 3 | DCLRE1C, RAG2, RAG1 |
| 609889 | ALPHA/BETA T-CELL LYMPHOPENIA WITH GAMMA/DELTA T-CELL EXPANSION, SEVERE CYTOMEGALOVIRUS INFECTION, AND AUTOIMMUNITY | OMIM, HUMSAVAR | link to OMIM | 1 | RAG1 |
| 601457 | SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-POSITIVE | OMIM | link to OMIM | 2 | RAG2, RAG1 |
| 233650 | COMBINED CELLULAR AND HUMORAL IMMUNE DEFECTS WITH GRANULOMAS | ClinVar, OMIM, HUMSAVAR | link to OMIM | 2 | RAG2, RAG1 |
Download the gene annotation in CSV format
| KEGG pathway | KEGG ID | KEGG IC |
|---|---|---|
| Primary immunodeficiency | hsa05340 | 7.52 |
| FoxO signaling pathway | hsa04068 | 5.63 |
| REACTOME pathway | REACTOME ID | REACTOME IC |
|---|---|---|
| MAPK6/MAPK4 signaling | R-HSA-5687128 | 6.54 |
| MAPK family signaling cascades | R-HSA-5683057 | 4.89 |
| Signal Transduction | R-HSA-162582 | 1.78 |
| GO term | GO ID | GO IC |
|---|---|---|
| histone binding | GO:0042393 | 4.72 |
| binding | GO:0005488 | 0.18 |
| nucleic acid binding | GO:0003676 | 1.44 |
| DNA binding | GO:0003677 | 1.92 |
| heterocyclic compound binding | GO:1901363 | 1.06 |
| ubiquitin-like protein transferase activity | GO:0019787 | 3.69 |
| sequence-specific DNA binding | GO:0043565 | 2.79 |
| transition metal ion binding | GO:0046914 | 2.48 |
| ubiquitin protein ligase activity | GO:0061630 | 4.47 |
| ion binding | GO:0043167 | 1.36 |
| transferase activity | GO:0016740 | 1.95 |
| metal ion binding | GO:0046872 | 1.41 |
| identical protein binding | GO:0042802 | 2.63 |
| protein homodimerization activity | GO:0042803 | 3.16 |
| hydrolase activity | GO:0016787 | 1.9 |
| cation binding | GO:0043169 | 1.4 |
| hydrolase activity, acting on ester bonds | GO:0016788 | 3.1 |
| catalytic activity | GO:0003824 | 1.05 |
| ubiquitin-protein transferase activity | GO:0004842 | 3.73 |
| ubiquitin-like protein ligase activity | GO:0061659 | 4.44 |
| nuclease activity | GO:0004518 | 4.33 |
| organic cyclic compound binding | GO:0097159 | 1.05 |
| protein binding | GO:0005515 | 0.46 |
| endonuclease activity | GO:0004519 | 4.78 |
| protein dimerization activity | GO:0046983 | 2.72 |
| ligase activity | GO:0016874 | 3.72 |
| zinc ion binding | GO:0008270 | 2.66 |