Source: CLINVAR ×
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: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		6 875 6 1.00 421 0.24
CUI: C0265325
Disease: Turcot syndrome (disorder)
Turcot syndrome (disorder) 		5 53 5 0.83 38 3.0E-02
CUI: C2936783
Disease: Colorectal cancer, hereditary nonpolyposis, type 1
Colorectal cancer, hereditary nonpolyposis, type 1 		6 107 5 0.71 64 4.9E-02
CUI: C0949059
Disease: Polyp of large intestine
Polyp of large intestine 		5 6 4 0.57 5 3.9E-03
CUI: C0153633
Disease: Malignant neoplasm of brain
Malignant neoplasm of brain 		5 4 3 0.38 2 1.6E-03
CUI: C0153425
Disease: Malignant tumor of small intestine
Malignant tumor of small intestine 		2 1 2 0.33 1 7.9E-04
CUI: C0238196
Disease: Small intestine carcinoma
Small intestine carcinoma 		2 1 2 0.33 1 7.9E-04
CUI: C1321489
Disease: Torre-Muir syndrome
Torre-Muir syndrome 		2 19 2 0.33 17 1.3E-02
CUI: C1333991
Disease: Hereditary Non-Polyposis Colon Cancer Type 2
Hereditary Non-Polyposis Colon Cancer Type 2 		2 67 2 0.33 46 3.6E-02
CUI: C1833477
Disease: COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5 		2 56 2 0.33 37 2.9E-02
CUI: C4024989
Disease: Hereditary nonpolyposis colorectal carcinoma
Hereditary nonpolyposis colorectal carcinoma 		2 0 2 0.33 0 0
CUI: C4748135
Disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES
INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES 		2 0 2 0.33 0 0
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		15 37 5 0.31 20 1.6E-02
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1 		3 0 2 0.29 0 0
CUI: C0338106
Disease: Adenocarcinoma of colon
Adenocarcinoma of colon 		4 0 2 0.25 0 0
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		15 28 4 0.24 7 5.4E-03
CUI: C1261473
Disease: Sarcoma
Sarcoma 		6 6 2 0.20 2 1.6E-03
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		28 802 5 0.17 5 2.4E-03
CUI: C0006413
Disease: Burkitt Lymphoma
Burkitt Lymphoma 		1 2 1 0.17 2 1.6E-03
CUI: C0034885
Disease: Rectal Neoplasms
Rectal Neoplasms 		1 0 1 0.17 0 0
CUI: C0153436
Disease: Malignant neoplasm of sigmoid colon
Malignant neoplasm of sigmoid colon 		1 1 1 0.17 1 7.9E-04
CUI: C0153439
Disease: Malignant neoplasm of ascending colon
Malignant neoplasm of ascending colon 		1 1 1 0.17 1 7.9E-04
CUI: C0153567
Disease: Uterine Cancer
Uterine Cancer 		1 1 1 0.17 1 7.9E-04
CUI: C0346300
Disease: Pituitary carcinoma
Pituitary carcinoma 		1 1 1 0.17 1 7.9E-04
CUI: C2750471
Disease: COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 8
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 8 		1 0 1 0.17 0 0