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: C1333600
Disease: Hereditary Malignant Neoplasm
Hereditary Malignant Neoplasm 		63 18 32 0.27 4 6.2E-04
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		74 2117 31 0.24 1107 0.15
CUI: C4552100
Disease: Lynch Syndrome
Lynch Syndrome 		103 65 30 0.19 19 3.0E-03
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		174 1331 41 0.19 448 6.2E-02
CUI: C0265325
Disease: Turcot syndrome (disorder)
Turcot syndrome (disorder) 		77 75 24 0.17 45 7.0E-03
CUI: C4523846
Disease: MSI-high
MSI-high 		83 0 24 0.16 0 0
CUI: C0221263
Disease: Cafe-au-Lait Spots
Cafe-au-Lait Spots 		74 32 22 0.16 3 4.7E-04
CUI: C1112155
Disease: Hereditary non-polyposis colorectal cancer syndrome
Hereditary non-polyposis colorectal cancer syndrome 		31 0 16 0.16 0 0
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		183 91 35 0.15 5 7.7E-04
CUI: C0949059
Disease: Polyp of large intestine
Polyp of large intestine 		99 32 24 0.15 5 7.8E-04
CUI: C1861975
Disease: Cafe au lait spots, multiple
Cafe au lait spots, multiple 		61 13 19 0.15 7 1.1E-03
CUI: C1708353
Disease: Hereditary Paraganglioma-Pheochromocytoma Syndrome
Hereditary Paraganglioma-Pheochromocytoma Syndrome 		23 98 14 0.14 48 7.5E-03
CUI: C0281267
Disease: bilateral breast cancer
bilateral breast cancer 		31 17 15 0.14 8 1.3E-03
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		40 875 16 0.14 453 6.7E-02
CUI: C2936783
Disease: Colorectal cancer, hereditary nonpolyposis, type 1
Colorectal cancer, hereditary nonpolyposis, type 1 		24 179 14 0.14 71 1.1E-02
CUI: C0278803
Disease: Adenocarcinoma of small intestine
Adenocarcinoma of small intestine 		34 0 15 0.14 0 0
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		174 187 32 0.14 41 6.3E-03
CUI: C1333944
Disease: Paraganglioma of head and neck
Paraganglioma of head and neck 		19 7 13 0.14 5 7.8E-04
CUI: C0260037
Disease: Multiple tumors
Multiple tumors 		143 12 28 0.14 1 1.6E-04
CUI: C0334108
Disease: Multiple polyps
Multiple polyps 		77 32 20 0.14 7 1.1E-03
CUI: C0496920
Disease: Neoplasm of uncertain or unknown behavior of ovary
Neoplasm of uncertain or unknown behavior of ovary 		29 0 14 0.14 0 0
CUI: C0281842
Disease: Abnormality of the fallopian tube
Abnormality of the fallopian tube 		22 0 13 0.13 0 0
CUI: C0031269
Disease: Peutz-Jeghers Syndrome
Peutz-Jeghers Syndrome 		71 79 18 0.13 21 3.3E-03
CUI: C0544886
Disease: Somatic mutation
Somatic mutation 		151 0 27 0.13 0 0
CUI: C1257877
Disease: Pheochromocytoma, Extra-Adrenal
Pheochromocytoma, Extra-Adrenal 		38 5 14 0.12 1 1.6E-04