BRCA1, BRCA1 DNA repair associated, 672

N. diseases: 747; N. variants: 2600
Source: ALL
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: C3469521
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 360 194 0.200 None 1.000 42 4 2001 2020
CUI: C0238033
Disease: Carcinoma of Male Breast
Carcinoma of Male Breast 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 87 38 0.100 None 0.927 41 1 1995 2019
CUI: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas 		disease Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process 2667 277 0.600 None 1.000 38 1 1997 2020
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma 		disease Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process 2689 322 0.400 None 1.000 35 1 1997 2020
CUI: C4552100
Disease: Lynch Syndrome
Lynch Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases Disease or Syndrome 103 65 0.100 None 0.970 33 2007 2020
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 5473 1962 0.100 None 1.000 28 1998 2019
CUI: C1333600
Disease: Hereditary Malignant Neoplasm
Hereditary Malignant Neoplasm 		disease Neoplasms Neoplastic Process 63 18 0.100 None 1.000 28 1 1996 2020
CUI: C3642347
Disease: Basal-Like Breast Carcinoma
Basal-Like Breast Carcinoma 		disease Neoplastic Process 245 9 0.100 None 0.963 27 2007 2019
CUI: C0178874
Disease: Tumor Progression
Tumor Progression 		phenotype Pathological Conditions, Signs and Symptoms Neoplastic Process 3865 72 0.100 None 0.962 26 1997 2019
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		disease Neoplastic Process 3669 502 0.100 None 0.958 24 1998 2019
CUI: C0007124
Disease: Noninfiltrating Intraductal Carcinoma
Noninfiltrating Intraductal Carcinoma 		disease Neoplasms Neoplastic Process 486 13 0.100 None 1.000 22 1995 2019
CUI: C3839280
Disease: High grade serous carcinoma
High grade serous carcinoma 		disease Neoplastic Process 118 1 0.100 None 0.955 22 2009 2020
CUI: C0853879
Disease: Invasive carcinoma of breast
Invasive carcinoma of breast 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 473 21 0.100 None 1.000 21 1 1999 2019
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 1597 326 0.200 None 1.000 21 6 1997 2020
CUI: C0281267
Disease: bilateral breast cancer
bilateral breast cancer 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 31 17 0.100 None 0.952 21 3 1993 2018
CUI: C0278488
Disease: Carcinoma breast stage IV
Carcinoma breast stage IV 		disease Neoplastic Process 573 14 0.100 None 0.900 20 2008 2020
CUI: C1333992
Disease: Hereditary Ovarian Carcinoma
Hereditary Ovarian Carcinoma 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process 14 0.100 None 1.000 19 1995 2018
CUI: C0238122
Disease: Fallopian Tube Carcinoma
Fallopian Tube Carcinoma 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 18 2 0.100 None 1.000 19 1999 2016
CUI: C2939419
Disease: Secondary Neoplasm
Secondary Neoplasm 		group Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 2492 85 0.100 None 0.944 18 1 2000 2019
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		phenotype Neoplastic Process 6626 169 0.100 None 0.941 17 1999 2019
CUI: C0025202
Disease: melanoma
melanoma 		disease Neoplasms Neoplastic Process 3087 515 0.200 None 0.941 17 2003 2019
CUI: C0007104
Disease: Female Breast Carcinoma
Female Breast Carcinoma 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 71 15 0.100 None 0.941 17 1 1996 2017
CUI: C0686619
Disease: Secondary malignant neoplasm of lymph node
Secondary malignant neoplasm of lymph node 		disease Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 2825 188 0.100 None 0.875 16 1999 2020
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 757 47 0.100 None 1.000 16 2001 2018
CUI: C4018978
Disease: Unilateral Breast Neoplasms
Unilateral Breast Neoplasms 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 7 2 0.100 None 0.933 15 2000 2018