BRCA2, BRCA2 DNA repair associated, 675

N. diseases: 68; N. variants: 2953
Source: CLINVAR ×
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 28 802 1.000 strong 0.951 0 108 1994 2020
CUI: C1838457
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP D1
FANCONI ANEMIA, COMPLEMENTATION GROUP D1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 1 36 0.920 definitive 1.000 1 36 2002 2018
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process 39 436 0.900 None 0.947 1 36 1994 2020
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		disease Neoplasms; Male Urogenital Diseases Neoplastic Process 12 72 0.900 strong 0.948 0 24 1996 2020
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Endocrine System Diseases Neoplastic Process 17 2106 0.800 strong 0.993 714 1160 1990 2020
CUI: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas 		disease Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process 2 5 0.800 None 0.988 1 3 1996 2019
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process 11 20 0.800 strong 0.948 0 3 1994 2020
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 5 48 0.720 strong 1.000 0 22 2005 2018
CUI: C2675520
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 		disease Finding 2 2633 0.700 definitive 1.000 397 2632 1988 2019
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 15 37 0.700 None 0.950 0 7 1994 2020
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma 		disease Neoplasms Neoplastic Process 18 80 0.630 strong 1.000 0 22 2003 2018
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 15 142 0.500 strong 0.970 12 1 1998 2019
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		group Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 34 314 0.500 None 0.987 2 49 1995 2019
CUI: C0025202
Disease: melanoma
melanoma 		disease Neoplasms Neoplastic Process 25 129 0.500 None 0.870 0 2 1996 2019
CUI: C3150546
Disease: PANCREATIC CANCER, SUSCEPTIBILITY TO, 2
PANCREATIC CANCER, SUSCEPTIBILITY TO, 2 		disease Finding 1 21 0.400 strong 1.000 0 21 2007 2013
CUI: C2751641
Disease: GLIOMA SUSCEPTIBILITY 3
GLIOMA SUSCEPTIBILITY 3 		disease Finding 1 22 0.400 strong 1.000 0 22 2007 2013
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 43 100 0.200 None 1.000 1 3 1998 2019
CUI: C0281267
Disease: bilateral breast cancer
bilateral breast cancer 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 7 8 0.200 None 0.944 0 2 2000 2019
CUI: C0007124
Disease: Noninfiltrating Intraductal Carcinoma
Noninfiltrating Intraductal Carcinoma 		disease Neoplasms Neoplastic Process 5 4 0.200 None 1.000 0 1 2003 2019
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 15 28 0.200 None 1.000 0 1 1999 2018
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		disease Neoplasms; Eye Diseases Neoplastic Process 3 153 0.170 None 0.750 1 1 1995 2014
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		disease Digestive System Diseases; Neoplasms Neoplastic Process 15 37 0.140 None 1.000 0 1 2004 2019
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms Neoplastic Process 67 6385 0.130 None 1.000 701 1021 1996 2019
CUI: C1134719
Disease: Invasive Ductal Breast Carcinoma
Invasive Ductal Breast Carcinoma 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 2 4 0.130 None 1.000 1 2 2000 2019
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease Mental or Behavioral Dysfunction 303 505 0.120 None 1.000 7 3 2005 2014