Associated Disease N. genes N. variants N. of shared genes JI g p-value g N. of shared variants JI v p-value v
Hereditary Breast and Ovarian Cancer Syndrome
74 2117 31 0.24 1107 0.15
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
2 2633 2 2.3E-02 890 0.11
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
3 2277 3 3.4E-02 647 8.1E-02
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
6941 3417 78 1.1E-02 526 5.7E-02
Hereditary Nonpolyposis Colorectal Neoplasms
40 875 16 0.14 453 6.7E-02
Hereditary Nonpolyposis Colorectal Cancer
174 1331 41 0.19 448 6.2E-02
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
384 698 24 5.4E-02 349 5.2E-02
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
2542 757 62 2.4E-02 224 3.2E-02
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
2780 385 57 2.0E-02 124 1.9E-02
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
311 827 38 0.11 115 1.6E-02
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
Polyposis, Adenomatous Intestinal
16 332 4 4.0E-02 110 1.7E-02
CUI: C0027651
Disease: Neoplasms
Neoplasms
10161 1644 83 8.2E-03 104 1.3E-02
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome
76 206 17 0.12 103 1.6E-02
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
6776 2793 80 1.2E-02 96 1.1E-02
FANCONI ANEMIA, COMPLEMENTATION GROUP J
3 141 2 2.2E-02 81 1.3E-02
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma
344 186 30 7.5E-02 75 1.2E-02
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
8621 1641 81 9.4E-03 74 9.3E-03
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
PTEN Hamartoma Tumor Syndrome
17 194 8 8.2E-02 72 1.1E-02
Colorectal cancer, hereditary nonpolyposis, type 1
24 179 14 0.14 71 1.1E-02
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
5473 1962 70 1.3E-02 70 8.5E-03
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
8221 1374 81 9.8E-03 70 9.1E-03
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
5725 942 62 1.1E-02 65 8.9E-03
Squamous cell carcinoma of the head and neck
1543 348 43 2.7E-02 62 9.3E-03
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli
609 237 40 6.1E-02 60 9.1E-03
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
1296 609 45 3.4E-02 59 8.5E-03