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 Nonpolyposis Colorectal Cancer
29 1268 26 0.90 421 0.24
Hereditary non-polyposis colorectal cancer syndrome
27 0 24 0.83 0 0
Hereditary Non-Polyposis Colon Cancer Type 2
19 154 19 0.73 54 5.5E-02
Colorectal cancer, hereditary nonpolyposis, type 1
19 179 19 0.73 57 5.7E-02
CUI: C4552100
Disease: Lynch Syndrome
Lynch Syndrome
9 0 9 0.35 0 0
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial
30 0 10 0.22 0 0
CUI: C0265325
Disease: Turcot syndrome (disorder)
Turcot syndrome (disorder)
5 65 5 0.19 41 4.6E-02
Constitutional Mismatch Repair Deficiency Syndrome
4 0 4 0.15 0 0
CUI: C0029925
Disease: Ovarian Carcinoma
Ovarian Carcinoma
30 0 6 0.12 0 0
CUI: C1321489
Disease: Torre-Muir syndrome
Torre-Muir syndrome
3 19 3 0.12 16 1.8E-02
CUI: C3842001
Disease: Adult only
Adult only
6 0 3 0.10 0 0
CUI: C0007103
Disease: Malignant neoplasm of endometrium
Malignant neoplasm of endometrium
18 0 4 1.0E-01 0 0
CUI: C0346191
Disease: Carcinoma in situ of endometrium
Carcinoma in situ of endometrium
18 0 4 1.0E-01 0 0
Neoplasm of uncertain or unknown behavior of ovary
29 0 5 1.0E-01 0 0
Hereditary Breast and Ovarian Cancer Syndrome
14 0 3 8.1E-02 0 0
CUI: C0920269
Disease: Microsatellite Instability
Microsatellite Instability
15 0 3 7.9E-02 0 0
CUI: C1721098
Disease: Replication Error Phenotype
Replication Error Phenotype
15 0 3 7.9E-02 0 0
Malignant Central Nervous System Neoplasm
2 0 2 7.7E-02 0 0
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma
72 99 7 7.7E-02 9 9.3E-03
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
Polyposis, Adenomatous Intestinal
16 0 3 7.7E-02 0 0
CUI: C2713443
Disease: Familial Intestinal Polyposis
Familial Intestinal Polyposis
16 0 3 7.7E-02 0 0
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli
17 0 3 7.5E-02 0 0
CUI: C0153943
Disease: Benign neoplasm of stomach
Benign neoplasm of stomach
17 0 3 7.5E-02 0 0
CUI: C0154060
Disease: Carcinoma in situ of stomach
Carcinoma in situ of stomach
17 0 3 7.5E-02 0 0
Neoplasm of uncertain or unknown behavior of stomach
17 0 3 7.5E-02 0 0