| Database | Diseases | Genes | Associations |
|---|---|---|---|
| OMIM | 2639 | 3566 | 5337 |
| ClinVar | 2085 | 3012 | 4358 |
| HUMSAVAR | 1807 | 2406 | 3365 |
| Total, avoiding redundancy | 2672 | 3658 | 5729 |
| No. of genes* | No. of associated diseases** | No. of genes associated to polygenic/heterogeneous diseases* | No. of associated polygenic/heterogenous diseases** | |
|---|---|---|---|---|
| Total number | 3628 | 2672 | 2600 | 621 |
| Protein coding genes | 3628 (100%) | 2655 (100%) | 2576 (100%) | 619 (100%) |
| with PDB entry | 1682 (46.4%) | 1625 (61.2%) | 1176 (45.7%) | 512 (82.7%) |
| Membrane proteins | 1891 (52.1%) | 1644 (61.9%) | 1364 (53.0%) | 517 (83.5%) |
| Enzymes (with E.C. number) | 1112 (30.7%) | 1045 (39.4%) | 688 (26.7%) | 363 (58.6%) |
| Reported in TRRUST (as TF) | 253 (7.0%) | 358 (13.5%) | 179 (6.9%) | 157 (25.4%) |
| Reported in TRRUST (as target) | 783 (21.6%) | 969 (36.5%) | 570 (22.1%) | 405 (65.4%) |
| Annotated with GO MF | 3419 (94.2%) | 2575 (97.0%) | 2419 (93.9%) | 617 (99.7%) |
| Annonated with GO BP | 3538 (97.5%) | 2619 (98.6%) | 2514 (97.6%) | 618 (99.8%) |
| Annotated with GO CC | 3576 (98.6%) | 2644 (99.6%) | 2533 (98.3%) | 618 (99.8%) |
| Associated to KEGG pathways | 2057 (56.7%) | 1868 (70.4%) | 1430 (55.5%) | 549 (88.7%) |
| Associated to REACTOME | 2278 (62.8%) | 2007 (75.6%) | 1595 (61.9%) | 563 (91.0%) |
| With physical BIOGRID interactions | 3307 (91.3%) | 2502 (94.2%) | 2346 (91.2%) | 609 (98.4%) |
| With genetic BIOGRID interactions | 351 (9.7%) | 472 (17.8%) | 259 (10.1%) | 247 (39.9%) |
| With STRING interactions | 2746 (75.7%) | 2132 (80.3%) | 1971 (76.5%) | 586 (94.7%) |
| With CORUM complexes | 714 (19.7%) | 706 (26.6%) | 558 (21.7%) | 340 (54.9%) |
| With CENSUS complexes | 696 (19.2%) | 689 (26.0%) | 501 (19.4%) | 296 (47.8%) |
| In tandem repeats | 381 (10.5%) | 448 (16.9%) | 280 (10.9%) | 234 (37.8%) |
* Percentages are computed with respect to the number of protein coding genes. ** Percentages are computed with respect to the number of diseases associated to protein coding genes.
| No. of diseases | No. of pariwise relationships | No. of involved protein coding genes | |
|---|---|---|---|
| Total number | 621 | 25100 | 2576 |
| In same cytogenetic band | 136 (21.9%) | 326 (1.3%) | 335 (13.0%) |
| In tandem repeat | 51 (8.2%) | 58 (0.2%) | 92 (3.6%) |
| In TF/target pairs | 39 (6.3%) | 81 (0.3%) | 94 (3.6%) |
| Co-regulated by the same TF (not involved in the disease) |
273 (44.0%) | 2308 (9.2%) | 626 (24.3%) |
| Sharing GO MF | 586 (94.4%) | 19075 (76.0%) | 2369 (92.0%) |
| Sharing GO BP | 597 (96.1%) | 22948 (91.4%) | 2502 (97.1%) |
| Sharing GO CC | 604 (97.3%) | 23645 (94.2%) | 2519 (97.8%) |
| Sharing KEGG pathway | 349 (56.2%) | 3129 (12.5%) | 1074 (41.7%) |
| Sharing REACTOME pathway | 474 (76.3%) | 9806 (39.1%) | 1554 (60.3%) |
| Interacting in PDB | 96 (15.5%) | 207 (0.8%) | 199 (7.7%) |
| In the same CORUM complex | 86 (13.8%) | 469 (1.9%) | 225 (8.7%) |
| In the same CENSUS complex | 45 (7.2%) | 166 (0.7%) | 119 (4.6%) |
| Directly linked in STRING | 291 (46.9%) | 1535 (6.1%) | 932 (36.2%) |
| Indirectly linked in STRING | 115 (18.5%) | 4355 (17.4%) | 1346 (52.3%) |
| Directly linked in BIOGRID (physical interaction) | 250 (40.3%) | 944 (3.8%) | 799 (31.0%) |
| Indirectly linked in BIOGRID (physical interaction) | 160 (25.8%) | 5228 (20.8%) | 1607 (62.4%) |
| Directly linked in BIOGRID (genetic interaction) | 9 (1.4%) | 13 (0.1%) | 19 (0.7%) |
| Indirectly linked in BIOGRID (genetic interaction) | 25 (4.0%) | 45 (0.2%) | 62 (2.4%) |
| No. of diseases | No. of annotations | |
|---|---|---|
| KEGG pathways | 412 (66.3%) | 2753 |
| REACTOME pathways | 488 (78.6%) | 4130 |
| GO MF terms | 530 (85.3%) | 4851 |
| GO BP terms | 551 (88.7%) | 17029 |
| GO CC terms | 477 (76.8%) | 3910 |