| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Hereditary Breast and Ovarian Cancer Syndrome | BRCA2 | disease | C0677776 | GeneticVariation | 0.8 | orphanet , disgenet |
| Hereditary Breast and Ovarian Cancer Syndrome | BRCA2 | disease | C0677776 | PosttranslationalModification | 0.8 | orphanet , disgenet |
| Hereditary Breast and Ovarian Cancer Syndrome | BRCA2 | disease | C0677776 | Biomarker | 0.8 | orphanet , disgenet |
| Hereditary Breast and Ovarian Cancer Syndrome | BRCA2 | disease | C0677776 | GermlineCausalMutation | 0.8 | orphanet , disgenet |
| Hereditary Breast and Ovarian Cancer Syndrome | BRCA1 | disease | C0677776 | PosttranslationalModification | 0.8 | orphanet , disgenet |
| Hereditary Breast and Ovarian Cancer Syndrome | BRCA2 | disease | C0677776 | CausalMutation | 0.8 | orphanet , disgenet |
| Hereditary Breast and Ovarian Cancer Syndrome | BRCA1 | disease | C0677776 | GeneticVariation | 0.8 | orphanet , disgenet |
| Hereditary Breast and Ovarian Cancer Syndrome | BRCA1 | disease | C0677776 | Biomarker | 0.8 | orphanet , disgenet |
| Hereditary Breast and Ovarian Cancer Syndrome | BRCA1 | disease | C0677776 | CausalMutation | 0.8 | orphanet , disgenet |
| Hereditary Breast and Ovarian Cancer Syndrome | BRCA1 | disease | C0677776 | GermlineCausalMutation | 0.8 | orphanet , disgenet |
| Hereditary Breast and Ovarian Cancer Syndrome | BRCA1 | disease | C0677776 | AlteredExpression | 0.8 | orphanet , disgenet |
| Hereditary Breast and Ovarian Cancer Syndrome | RAD51C | disease | C0677776 | GermlineCausalMutation | 0.5 | orphanet , disgenet |
| Hereditary Breast and Ovarian Cancer Syndrome | RAD51C | disease | C0677776 | Biomarker | 0.5 | orphanet , disgenet |
| Hereditary Breast and Ovarian Cancer Syndrome | TP53 | disease | C0677776 | CausalMutation | 0.5 | orphanet , disgenet |
| Hereditary Breast and Ovarian Cancer Syndrome | TP53 | disease | C0677776 | Biomarker | 0.5 | orphanet , disgenet |
| Hereditary Breast and Ovarian Cancer Syndrome | RAD51C | disease | C0677776 | CausalMutation | 0.5 | orphanet , disgenet |
| Hereditary Breast and Ovarian Cancer Syndrome | TP53 | disease | C0677776 | GeneticVariation | 0.5 | orphanet , disgenet |
| Hereditary Breast and Ovarian Cancer Syndrome | RAD51C | disease | C0677776 | GeneticVariation | 0.5 | orphanet , disgenet |
| Hereditary Breast and Ovarian Cancer Syndrome | PALB2 | disease | C0677776 | CausalMutation | 0.46 | orphanet , disgenet |
| Hereditary Breast and Ovarian Cancer Syndrome | CHEK2 | disease | C0677776 | GeneticVariation | 0.46 | orphanet , disgenet |
| Hereditary Breast and Ovarian Cancer Syndrome | PALB2 | disease | C0677776 | GeneticVariation | 0.46 | orphanet , disgenet |
| Hereditary Breast and Ovarian Cancer Syndrome | CHEK2 | disease | C0677776 | CausalMutation | 0.46 | orphanet , disgenet |
| Hereditary Breast and Ovarian Cancer Syndrome | RAD51D | disease | C0677776 | Biomarker | 0.42 | orphanet , disgenet |
| Hereditary Breast and Ovarian Cancer Syndrome | RAD51D | disease | C0677776 | CausalMutation | 0.42 | orphanet , disgenet |
| Hereditary Breast and Ovarian Cancer Syndrome | RAD51D | disease | C0677776 | GeneticVariation | 0.42 | orphanet , disgenet |
| Hereditary Breast and Ovarian Cancer Syndrome | RAD51D | disease | C0677776 | GermlineCausalMutation | 0.42 | orphanet , disgenet |
| Hereditary Breast and Ovarian Cancer Syndrome | BRIP1 | disease | C0677776 | GeneticVariation | 0.41 | orphanet , disgenet |
| Hereditary Breast and Ovarian Cancer Syndrome | BRIP1 | disease | C0677776 | CausalMutation | 0.41 | orphanet , disgenet |
| Hereditary Breast and Ovarian Cancer Syndrome | BARD1 | disease | C0677776 | CausalMutation | 0.4 | orphanet , disgenet |
| Hereditary Breast and Ovarian Cancer Syndrome | NBN | disease | C0677776 | GeneticVariation | 0.4 | orphanet , disgenet |
| Hereditary Breast and Ovarian Cancer Syndrome | BARD1 | disease | C0677776 | GeneticVariation | 0.4 | orphanet , disgenet |
| Hereditary Breast and Ovarian Cancer Syndrome | MRE11 | disease | C0677776 | GeneticVariation | 0.4 | orphanet , disgenet |
| Hereditary Breast and Ovarian Cancer Syndrome | PTEN | disease | C0677776 | GeneticVariation | 0.33 | orphanet , disgenet |
| Hereditary Breast and Ovarian Cancer Syndrome | PTEN | disease | C0677776 | Biomarker | 0.33 | orphanet , disgenet |
| Hereditary Breast and Ovarian Cancer Syndrome | RAD50 | disease | C0677776 | GeneticVariation | 0.3 | orphanet , disgenet |
| Hereditary Breast and Ovarian Cancer Syndrome | RAD51 | disease | C0677776 | GeneticVariation | 0.3 | orphanet , disgenet |
| Hereditary Breast and Ovarian Cancer Syndrome | ATM | disease | C0677776 | GeneticVariation | 0.16 | disgenet |
| Hereditary Breast and Ovarian Cancer Syndrome | ATM | disease | C0677776 | PosttranslationalModification | 0.16 | disgenet |
| Hereditary Breast and Ovarian Cancer Syndrome | MLH1 | disease | C0677776 | GeneticVariation | 0.15 | disgenet |
| Hereditary Breast and Ovarian Cancer Syndrome | RPL21P4 | disease | C0677776 | GeneticVariation | 0.1 | disgenet |
| Hereditary Breast and Ovarian Cancer Syndrome | ABRAXAS1 | disease | C0677776 | GeneticVariation | 0.1 | disgenet |
| Hereditary Breast and Ovarian Cancer Syndrome | RAD51B | disease | C0677776 | GeneticVariation | 0.1 | disgenet |
| Hereditary Breast and Ovarian Cancer Syndrome | C11orf65 | disease | C0677776 | GeneticVariation | 0.1 | disgenet |
| Hereditary Breast and Ovarian Cancer Syndrome | MSH6 | disease | C0677776 | GeneticVariation | 0.06 | disgenet |
| Hereditary Breast and Ovarian Cancer Syndrome | MSH6 | disease | C0677776 | Biomarker | 0.06 | disgenet |
| Hereditary Breast and Ovarian Cancer Syndrome | MSH2 | disease | C0677776 | Biomarker | 0.05 | disgenet |
| Hereditary Breast and Ovarian Cancer Syndrome | MSH2 | disease | C0677776 | GeneticVariation | 0.05 | disgenet |
| Hereditary Breast and Ovarian Cancer Syndrome | PMS2 | disease | C0677776 | Biomarker | 0.04 | disgenet |
| Hereditary Breast and Ovarian Cancer Syndrome | PMS2 | disease | C0677776 | GeneticVariation | 0.04 | disgenet |
| Hereditary Breast and Ovarian Cancer Syndrome | MRC1 | disease | C0677776 | Biomarker | 0.02 | disgenet |
| Hereditary Breast and Ovarian Cancer Syndrome | KRT88P | disease | C0677776 | GeneticVariation | 0.02 | disgenet |
| Hereditary Breast and Ovarian Cancer Syndrome | KRT88P | disease | C0677776 | Biomarker | 0.02 | disgenet |
| Hereditary Breast and Ovarian Cancer Syndrome | BRCA3 | disease | C0677776 | GeneticVariation | 0.02 | disgenet |
| Hereditary Breast and Ovarian Cancer Syndrome | KRAS | disease | C0677776 | GeneticVariation | 0.02 | disgenet |
| Hereditary Breast and Ovarian Cancer Syndrome | MRC1 | disease | C0677776 | GeneticVariation | 0.02 | disgenet |
| Hereditary Breast and Ovarian Cancer Syndrome | PRSS1 | disease | C0677776 | GeneticVariation | 0.02 | disgenet |
| Hereditary Breast and Ovarian Cancer Syndrome | AR | disease | C0677776 | GeneticVariation | 0.02 | disgenet |
| Hereditary Breast and Ovarian Cancer Syndrome | EPHA3 | disease | C0677776 | GeneticVariation | 0.01 | disgenet |
| Hereditary Breast and Ovarian Cancer Syndrome | KIT | disease | C0677776 | GeneticVariation | 0.01 | disgenet |
| Hereditary Breast and Ovarian Cancer Syndrome | HSD17B7 | disease | C0677776 | GeneticVariation | 0.01 | disgenet |
| Hereditary Breast and Ovarian Cancer Syndrome | VHL | disease | C0677776 | GeneticVariation | 0.01 | disgenet |
| Hereditary Breast and Ovarian Cancer Syndrome | PARP1 | disease | C0677776 | GeneticVariation | 0.01 | disgenet |
| Hereditary Breast and Ovarian Cancer Syndrome | ERBB2 | disease | C0677776 | AlteredExpression | 0.01 | disgenet |
| Hereditary Breast and Ovarian Cancer Syndrome | RNU1-4 | disease | C0677776 | Biomarker | 0.01 | disgenet |
| Hereditary Breast and Ovarian Cancer Syndrome | CDK2 | disease | C0677776 | GeneticVariation | 0.01 | disgenet |
| Hereditary Breast and Ovarian Cancer Syndrome | NOTCH3 | disease | C0677776 | Biomarker | 0.01 | disgenet |
| Hereditary Breast and Ovarian Cancer Syndrome | S100A2 | disease | C0677776 | Biomarker | 0.01 | disgenet |
| Hereditary Breast and Ovarian Cancer Syndrome | MSH3 | disease | C0677776 | GeneticVariation | 0.01 | disgenet |
| Hereditary Breast and Ovarian Cancer Syndrome | WT1 | disease | C0677776 | GeneticVariation | 0.01 | disgenet |
| Hereditary Breast and Ovarian Cancer Syndrome | APRT | disease | C0677776 | Biomarker | 0.01 | disgenet |
| Hereditary Breast and Ovarian Cancer Syndrome | MIR146A | disease | C0677776 | GeneticVariation | 0.01 | disgenet |
| Hereditary Breast and Ovarian Cancer Syndrome | RAD52 | disease | C0677776 | GeneticVariation | 0.01 | disgenet |
| Hereditary Breast and Ovarian Cancer Syndrome | HSD11B2 | disease | C0677776 | Biomarker | 0.01 | disgenet |
| Hereditary Breast and Ovarian Cancer Syndrome | CDKN2A | disease | C0677776 | GeneticVariation | 0.01 | disgenet |
| Hereditary Breast and Ovarian Cancer Syndrome | SEM1 | disease | C0677776 | GeneticVariation | 0.01 | disgenet |
| Hereditary Breast and Ovarian Cancer Syndrome | HSD17B1 | disease | C0677776 | Biomarker | 0.01 | disgenet |
| Hereditary Breast and Ovarian Cancer Syndrome | LOC111589215 | disease | C0677776 | GeneticVariation | 0.01 | disgenet |
| Hereditary Breast and Ovarian Cancer Syndrome | HSD17B13 | disease | C0677776 | GeneticVariation | 0.01 | disgenet |
| Hereditary Breast and Ovarian Cancer Syndrome | NF2 | disease | C0677776 | GeneticVariation | 0.01 | disgenet |
| Hereditary Breast and Ovarian Cancer Syndrome | RASSF7 | disease | C0677776 | GeneticVariation | 0.01 | disgenet |
| Hereditary Breast and Ovarian Cancer Syndrome | IGFBP4 | disease | C0677776 | Biomarker | 0.01 | disgenet |
| Hereditary Breast and Ovarian Cancer Syndrome | ALYREF | disease | C0677776 | GeneticVariation | 0.01 | disgenet |
| Hereditary Breast and Ovarian Cancer Syndrome | CRYGD | disease | C0677776 | GeneticVariation | 0.01 | disgenet |
| Hereditary Breast and Ovarian Cancer Syndrome | BCCIP | disease | C0677776 | GeneticVariation | 0.01 | disgenet |
| Hereditary Breast and Ovarian Cancer Syndrome | PMS1 | disease | C0677776 | GeneticVariation | 0.01 | disgenet |
| Hereditary Breast and Ovarian Cancer Syndrome | ERCC4 | disease | C0677776 | GeneticVariation | 0.01 | disgenet |
| Hereditary Breast and Ovarian Cancer Syndrome | SLC22A12 | disease | C0677776 | Biomarker | 0.01 | disgenet |
| Hereditary Breast and Ovarian Cancer Syndrome | FAP | disease | C0677776 | Biomarker | 0.01 | disgenet |
| Hereditary Breast and Ovarian Cancer Syndrome | HOXB13 | disease | C0677776 | GeneticVariation | 0.01 | disgenet |
| Hereditary Breast and Ovarian Cancer Syndrome | DHRS11 | disease | C0677776 | GeneticVariation | 0.01 | disgenet |
| Hereditary Breast and Ovarian Cancer Syndrome | EMSY | disease | C0677776 | AlteredExpression | 0.01 | disgenet |
| Hereditary Breast and Ovarian Cancer Syndrome | CDH1 | disease | C0677776 | GeneticVariation | 0.01 | disgenet |
| Hereditary Breast and Ovarian Cancer Syndrome | RB1 | disease | C0677776 | GeneticVariation | 0.01 | disgenet |
| Hereditary Breast and Ovarian Cancer Syndrome | FANCA | disease | C0677776 | Biomarker | 0.01 | disgenet |
| Hereditary Breast and Ovarian Cancer Syndrome | HRAS | disease | C0677776 | GeneticVariation | 0.01 | disgenet |
| Hereditary Breast and Ovarian Cancer Syndrome | FANCC | disease | C0677776 | Biomarker | 0.01 | disgenet |
| Hereditary Breast and Ovarian Cancer Syndrome | APC | disease | C0677776 | GeneticVariation | 0.01 | disgenet |
| Hereditary Breast and Ovarian Cancer Syndrome | DHX8 | disease | C0677776 | GeneticVariation | 0.01 | disgenet |
| Hereditary Breast and Ovarian Cancer Syndrome | MFAP1 | disease | C0677776 | Biomarker | 0.01 | disgenet |
| Hereditary Breast and Ovarian Cancer Syndrome | NRAS | disease | C0677776 | GeneticVariation | 0.01 | disgenet |
| Hereditary Breast and Ovarian Cancer Syndrome | COL11A2 | disease | C0677776 | GeneticVariation | 0.01 | disgenet |
| Hereditary Breast and Ovarian Cancer Syndrome | OLA1 | disease | C0677776 | GeneticVariation | 0.01 | disgenet |
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