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: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		17 2106 16 0.24 1105 0.15
CUI: C2675520
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 		2 2633 2 3.0E-02 890 0.11
CUI: C2676676
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 		3 2273 3 4.5E-02 647 8.1E-02
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		28 802 22 0.30 456 6.8E-02
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		6 875 5 7.4E-02 453 6.7E-02
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		6 1268 5 7.4E-02 441 6.1E-02
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		2 661 2 3.0E-02 347 5.2E-02
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		39 436 23 0.28 205 3.1E-02
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		34 314 12 0.13 116 1.8E-02
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
Polyposis, Adenomatous Intestinal 		1 332 1 1.5E-02 110 1.7E-02
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		1 764 1 1.5E-02 109 1.5E-02
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		2 157 2 3.0E-02 90 1.4E-02
CUI: C1836860
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP J
FANCONI ANEMIA, COMPLEMENTATION GROUP J 		1 140 1 1.5E-02 81 1.3E-02
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
PTEN Hamartoma Tumor Syndrome 		3 193 1 1.4E-02 72 1.1E-02
CUI: C2936783
Disease: Colorectal cancer, hereditary nonpolyposis, type 1
Colorectal cancer, hereditary nonpolyposis, type 1 		6 107 6 9.0E-02 63 9.8E-03
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		8 128 7 0.10 61 9.5E-03
CUI: C1168401
Disease: Squamous cell carcinoma of the head and neck
Squamous cell carcinoma of the head and neck 		27 179 4 4.4E-02 59 9.1E-03
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		31 216 6 6.5E-02 58 8.9E-03
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		21 142 3 3.5E-02 58 9.0E-03
CUI: C1837991
Disease: Colorectal Adenomatous Polyposis, Autosomal Recessive
Colorectal Adenomatous Polyposis, Autosomal Recessive 		1 98 1 1.5E-02 57 8.9E-03
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		37 211 6 6.1E-02 56 8.6E-03
CUI: C0398791
Disease: Nijmegen Breakage Syndrome
Nijmegen Breakage Syndrome 		1 129 1 1.5E-02 56 8.7E-03
CUI: C1708349
Disease: Hereditary Diffuse Gastric Cancer
Hereditary Diffuse Gastric Cancer 		2 108 1 1.5E-02 54 8.4E-03
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli 		1 154 1 1.5E-02 51 7.9E-03
CUI: C0279663
Disease: Serous cystadenocarcinoma ovary
Serous cystadenocarcinoma ovary 		9 99 1 1.3E-02 50 7.8E-03