Table 2.
Examples of gene-disease associations from BeFree with low score and supported by a large number of publications
| Gene | Disease | Source | Score | Number of PMIDs (Number of PMIDS provided by BeFree) |
|---|---|---|---|---|
| TP53 | Malignant Neoplasms (C0006826) | BeFree | 0.06 | 3365 |
| TP53 | Neoplasms (C0027651) | DisGeNET | 0.401 | 475 (401) |
| BRCA1 | Breast Carcinoma (C0678222) | BeFree | 0.06 | 1966 |
| BRCA1 | Malignant neoplasm of breast (C0006142) | DisGeNET | 0.702 | 2123 (2056) |
| ESR1 | Breast Carcinoma (C0678222) | BeFree | 0.06 | 1553 |
| ESR1 | Malignant neoplasm of breast (C0006142) | DisGeNET | 0.3 | 1690 (1681) |
| ERBB2 | Breast Carcinoma (C0678222) | BeFree | 0.06 | 1425 |
| ERBB2 | Malignant neoplasm of breast (C0006142) | DisGeNET | 0.4 | 1493 (1484) |
| BRCA1 | Ovarian carcinoma (C0029925) | BeFree | 0.06 | 1389 |
| BRCA1 | Malignant Neoplasm of Ovary (C1140680) | DisGeNET | 0.6 | 1365 (1337) |
| BRCA1 | Ovarian Neoplasm (C0919267) | DisGeNET | 0.6 | 144 (71) |
Similar associations provided by DisGeNET are indicated.