Source: ALL
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: C1333991
Disease: Hereditary Non-Polyposis Colon Cancer Type 2
Hereditary Non-Polyposis Colon Cancer Type 2 		23 154 20 0.74 10 3.1E-02
CUI: C1112155
Disease: Hereditary non-polyposis colorectal cancer syndrome
Hereditary non-polyposis colorectal cancer syndrome 		31 0 22 0.67 0 0
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		40 875 23 0.56 57 5.7E-02
CUI: C4020965
Disease: Cardiac diverticulum
Cardiac diverticulum 		14 0 8 0.27 0 0
CUI: C0001816
Disease: Agnosia
Agnosia 		17 0 8 0.24 0 0
CUI: C2732838
Disease: Neoplasm of skeletal system
Neoplasm of skeletal system 		17 0 8 0.24 0 0
CUI: C0347509
Disease: Benign neoplasm of central nervous system
Benign neoplasm of central nervous system 		21 0 8 0.22 0 0
CUI: C3896578
Disease: Familial Colorectal Cancer Type X
Familial Colorectal Cancer Type X 		14 0 6 0.19 0 0
CUI: C0042076
Disease: Urologic Neoplasms
Urologic Neoplasms 		28 0 8 0.18 0 0
CUI: C4024989
Disease: Hereditary nonpolyposis colorectal carcinoma
Hereditary nonpolyposis colorectal carcinoma 		28 0 7 0.16 0 0
CUI: C1860335
Disease: Axillary freckling
Axillary freckling 		6 0 4 0.15 0 0
CUI: C4321324
Disease: Constitutional Mismatch Repair Deficiency Syndrome
Constitutional Mismatch Repair Deficiency Syndrome 		6 0 4 0.15 0 0
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		88 6387 14 0.14 71 1.1E-02
CUI: C1321489
Disease: Torre-Muir syndrome
Torre-Muir syndrome 		8 20 4 0.14 9 4.7E-02
CUI: C0234144
Disease: Dysgraphia
Dysgraphia 		43 0 8 0.14 0 0
CUI: C0948303
Disease: Carcinoma of peritoneum
Carcinoma of peritoneum 		10 0 4 0.13 0 0
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		174 1331 23 0.13 83 5.8E-02
CUI: C1368816
Disease: Sebaceous adenoma
Sebaceous adenoma 		11 0 4 0.13 0 0
CUI: C3469522
Disease: BREAST CANCER, SUSCEPTIBILITY TO
BREAST CANCER, SUSCEPTIBILITY TO 		11 0 4 0.13 0 0
CUI: C3887875
Disease: Visual field defects
Visual field defects 		47 0 8 0.13 0 0
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		74 0 11 0.13 0 0
CUI: C1833970
Disease: COLORECTAL CANCER, SOMATIC
COLORECTAL CANCER, SOMATIC 		3 0 3 0.12 0 0
CUI: C1834728
Disease: Malignant genitourinary tract tumor
Malignant genitourinary tract tumor 		3 0 3 0.12 0 0
CUI: C0149793
Disease: Amaurosis Fugax
Amaurosis Fugax 		49 0 8 0.12 0 0
CUI: C1333600
Disease: Hereditary Malignant Neoplasm
Hereditary Malignant Neoplasm 		63 18 9 0.12 1 5.1E-03