Associated Disease N. genes N. variants N. of shared genes JI g p-value g N. of shared variants JI v p-value v
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
88 6387 32 0.27 4 6.2E-04
Hereditary Breast and Ovarian Cancer Syndrome
74 2117 27 0.25 2 9.4E-04
CUI: C4552100
Disease: Lynch Syndrome
Lynch Syndrome
103 0 28 0.20 0 0
CUI: C0281267
Disease: bilateral breast cancer
bilateral breast cancer
31 0 14 0.17 0 0
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial
183 91 35 0.17 3 2.8E-02
CUI: C0281842
Disease: Abnormality of the fallopian tube
Abnormality of the fallopian tube
22 0 12 0.16 0 0
CUI: C1514428
Disease: Primary peritoneal carcinoma
Primary peritoneal carcinoma
49 0 15 0.15 0 0
Hereditary Nonpolyposis Colorectal Cancer
174 1331 31 0.15 2 1.5E-03
Hereditary Nonpolyposis Colorectal Neoplasms
40 875 13 0.14 2 2.2E-03
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome
76 206 17 0.14 2 9.0E-03
CUI: C0265325
Disease: Turcot syndrome (disorder)
Turcot syndrome (disorder)
77 75 17 0.14 1 1.1E-02
CUI: C0007104
Disease: Female Breast Carcinoma
Female Breast Carcinoma
71 0 16 0.14 0 0
CUI: C0221263
Disease: Cafe-au-Lait Spots
Cafe-au-Lait Spots
74 0 16 0.13 0 0
Hereditary Non-Polyposis Colon Cancer Type 2
23 0 10 0.13 0 0
CUI: C1096616
Disease: Contralateral breast cancer
Contralateral breast cancer
24 0 10 0.13 0 0
CUI: C3280492
Disease: TUMOR PREDISPOSITION SYNDROME
TUMOR PREDISPOSITION SYNDROME
16 0 9 0.13 0 0
CUI: C1336076
Disease: Sporadic Breast Carcinoma
Sporadic Breast Carcinoma
184 46 28 0.13 1 1.6E-02
CUI: C0235653
Disease: Malignant neoplasm of female breast
Malignant neoplasm of female breast
71 0 15 0.13 0 0
Familial Atypical Multiple Mole-Melanoma
10 0 8 0.12 0 0
Neoplasm of uncertain or unknown behavior of ovary
29 0 10 0.12 0 0
Hereditary non-polyposis colorectal cancer syndrome
31 0 10 0.12 0 0
CUI: C0206684
Disease: Sebaceous Adenocarcinoma
Sebaceous Adenocarcinoma
41 0 11 0.12 0 0
Colorectal cancer, hereditary nonpolyposis, type 1
24 179 9 0.12 1 5.1E-03
CUI: C0278803
Disease: Adenocarcinoma of small intestine
Adenocarcinoma of small intestine
34 0 10 0.11 0 0
CUI: C4523846
Disease: MSI-high
MSI-high
83 0 15 0.11 0 0