| Disease ID | Disease name | Source of annotation with POLR1C | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| PS154500 | TREACHER COLLINS SYNDROME | ClinVar, OMIM, HUMSAVAR | link to OMIM | 3 | TCOF1, POLR1D, POLR1C |
| PS312080 | LEUKODYSTROPHY, HYPOMYELINATING | ClinVar, OMIM, HUMSAVAR | link to OMIM | 13 | PYCR2, POLR3A, HIKESHI, AIMP1, RARS, POLR3B, VPS11, PLP1, HSPD1, POLR1C, FAM126A, GJC2, TUBB4A |
Download the gene annotation in CSV format
| KEGG pathway | KEGG ID | KEGG IC |
|---|---|---|
| Metabolic pathways | hsa01100 | 2.49 |
| Cytosolic DNA-sensing pathway | hsa04623 | 6.79 |
| RNA polymerase | hsa03020 | 7.77 |
| Epstein-Barr virus infection | hsa05169 | 4.97 |
| Purine metabolism | hsa00230 | 5.28 |
| Pyrimidine metabolism | hsa00240 | 6.01 |
| REACTOME pathway | REACTOME ID | REACTOME IC |
|---|---|---|
| Immune System | R-HSA-168256 | 2.37 |
| RNA Polymerase I Promoter Escape | R-HSA-73772 | 8.08 |
| RNA Polymerase I Chain Elongation | R-HSA-73777 | 7.18 |
| RNA Polymerase III Transcription Initiation From Type 2 Promoter | R-HSA-76066 | 8.28 |
| RNA Polymerase I Promoter Clearance | R-HSA-73854 | 6.75 |
| RNA Polymerase III Transcription Initiation From Type 1 Promoter | R-HSA-76061 | 8.23 |
| Negative epigenetic regulation of rRNA expression | R-HSA-5250941 | 6.75 |
| RNA Polymerase III Transcription Initiation | R-HSA-76046 | 7.85 |
| NoRC negatively regulates rRNA expression | R-HSA-427413 | 6.81 |
| RNA Polymerase III Abortive And Retractive Initiation | R-HSA-749476 | 7.66 |
| RNA Polymerase III Transcription Termination | R-HSA-73980 | 8.46 |
| Epigenetic regulation of gene expression | R-HSA-212165 | 6.46 |
| Innate Immune System | R-HSA-168249 | 3.17 |
| RNA Polymerase I, RNA Polymerase III, and Mitochondrial Transcription | R-HSA-504046 | 6.16 |
| RNA Polymerase I Transcription Initiation | R-HSA-73762 | 7.43 |
| Cytosolic sensors of pathogen-associated DNA | R-HSA-1834949 | 6.94 |
| RNA Polymerase III Transcription Initiation From Type 3 Promoter | R-HSA-76071 | 8.18 |
| RNA Polymerase I Transcription | R-HSA-73864 | 6.72 |
| RNA Polymerase I Transcription Termination | R-HSA-73863 | 8.03 |
| Gene Expression | R-HSA-74160 | 2.72 |
| RNA Polymerase III Chain Elongation | R-HSA-73780 | 8.81 |
| RNA Polymerase III Transcription | R-HSA-74158 | 7.66 |
| GO term | GO ID | GO IC |
|---|---|---|
| nucleotidyltransferase activity | GO:0016779 | 4.81 |
| RNA polymerase I activity | GO:0001054 | 7.25 |
| organic cyclic compound binding | GO:0097159 | 1.05 |
| DNA binding | GO:0003677 | 1.92 |
| RNA polymerase activity | GO:0034062 | 5.93 |
| catalytic activity | GO:0003824 | 1.05 |
| transferase activity | GO:0016740 | 1.95 |
| RNA polymerase III activity | GO:0001056 | 6.85 |
| binding | GO:0005488 | 0.18 |
| protein binding | GO:0005515 | 0.46 |
| transferase activity, transferring phosphorus-containing groups | GO:0016772 | 2.77 |
| DNA-directed RNA polymerase activity | GO:0003899 | 5.98 |
| protein dimerization activity | GO:0046983 | 2.72 |
| heterocyclic compound binding | GO:1901363 | 1.06 |
| nucleic acid binding | GO:0003676 | 1.44 |