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: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		67 6385 3 4.5E-02 647 8.1E-02
CUI: C2675520
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 		2 2633 2 0.67 17 3.5E-03
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		17 2106 3 0.18 786 0.22
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		28 802 3 0.11 87 2.9E-02
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		39 436 3 7.7E-02 58 2.2E-02
CUI: C1843367
Disease: Poor school performance
Poor school performance 		211 411 1 4.7E-03 1 3.7E-04
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		34 314 2 5.7E-02 54 2.1E-02
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		160 246 1 6.2E-03 1 4.0E-04
CUI: C3469521
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) 		5 150 1 0.14 2 8.3E-04
CUI: C0025202
Disease: melanoma
melanoma 		25 129 1 3.7E-02 1 4.2E-04
CUI: C0398791
Disease: Nijmegen Breakage Syndrome
Nijmegen Breakage Syndrome 		1 129 1 0.33 1 4.2E-04
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma 		18 80 1 5.0E-02 2 8.5E-04
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		12 72 1 7.1E-02 2 8.5E-04
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma 		5 48 1 0.14 2 8.6E-04
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		15 37 1 5.9E-02 1 4.3E-04
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		15 37 2 0.12 5 2.2E-03
CUI: C1838457
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP D1
FANCONI ANEMIA, COMPLEMENTATION GROUP D1 		1 36 1 0.33 3 1.3E-03
CUI: C4721532
Disease: Lymphoma, Non-Hodgkin, Familial
Lymphoma, Non-Hodgkin, Familial 		15 33 2 0.12 1 4.3E-04
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		15 28 3 0.20 2 8.7E-04
CUI: C4554406
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP S
FANCONI ANEMIA, COMPLEMENTATION GROUP S 		1 28 1 0.33 28 1.2E-02
CUI: C2751641
Disease: GLIOMA SUSCEPTIBILITY 3
GLIOMA SUSCEPTIBILITY 3 		1 22 1 0.33 2 8.7E-04
CUI: C3280442
Disease: PANCREATIC CANCER, SUSCEPTIBILITY TO, 4
PANCREATIC CANCER, SUSCEPTIBILITY TO, 4 		1 22 1 0.33 22 9.7E-03
CUI: C3150546
Disease: PANCREATIC CANCER, SUSCEPTIBILITY TO, 2
PANCREATIC CANCER, SUSCEPTIBILITY TO, 2 		1 21 1 0.33 1 4.4E-04
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		11 20 3 0.27 10 4.4E-03
CUI: C4721806
Disease: Carcinoma, Basal Cell
Carcinoma, Basal Cell 		9 11 2 0.20 1 4.4E-04