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: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		39 436 14 0.33 73 3.0E-02
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		11 20 7 0.33 10 4.7E-03
CUI: C3469522
Disease: BREAST CANCER, SUSCEPTIBILITY TO
BREAST CANCER, SUSCEPTIBILITY TO 		11 24 7 0.33 4 1.9E-03
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		28 802 11 0.32 170 6.2E-02
CUI: C1319315
Disease: Adenocarcinoma of large intestine
Adenocarcinoma of large intestine 		9 11 6 0.30 2 9.5E-04
CUI: C4721806
Disease: Carcinoma, Basal Cell
Carcinoma, Basal Cell 		9 11 6 0.30 4 1.9E-03
CUI: C0007124
Disease: Noninfiltrating Intraductal Carcinoma
Noninfiltrating Intraductal Carcinoma 		5 4 5 0.29 2 9.5E-04
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		15 37 7 0.28 13 6.1E-03
CUI: C1261473
Disease: Sarcoma
Sarcoma 		6 0 5 0.28 0 0
CUI: C0281267
Disease: bilateral breast cancer
bilateral breast cancer 		7 8 5 0.26 1 4.7E-04
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		67 6385 16 0.24 1105 0.15
CUI: C1842408
Disease: increased risk of pancreatic cancer
increased risk of pancreatic cancer 		5 6 4 0.22 3 1.4E-03
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		34 314 9 0.21 58 2.5E-02
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		15 0 5 0.19 0 0
CUI: C0242363
Disease: Islet Cell Tumor
Islet Cell Tumor 		3 2 3 0.18 1 4.7E-04
CUI: C2676676
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 		3 2273 3 0.18 786 0.22
CUI: C2986658
Disease: Diffuse Intrinsic Pontine Glioma
Diffuse Intrinsic Pontine Glioma 		3 3 3 0.18 1 4.7E-04
CUI: C1861028
Disease: Esophageal atresia with or without tracheoesophageal fistula
Esophageal atresia with or without tracheoesophageal fistula 		5 11 3 0.16 7 3.3E-03
CUI: C3280492
Disease: TUMOR PREDISPOSITION SYNDROME
TUMOR PREDISPOSITION SYNDROME 		5 62 3 0.16 2 9.2E-04
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		15 28 4 0.14 2 9.4E-04
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		2 661 2 0.12 2 7.2E-04
CUI: C0023448
Disease: Lymphoid leukemia
Lymphoid leukemia 		2 0 2 0.12 0 0
CUI: C0029440
Disease: Osteoma
Osteoma 		2 0 2 0.12 0 0
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		2 157 2 0.12 2 8.8E-04
CUI: C0206667
Disease: Adrenal Cortical Adenoma
Adrenal Cortical Adenoma 		2 0 2 0.12 0 0