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: C0007097
Disease: Carcinoma
Carcinoma 		group Neoplasms Neoplastic Process 2462 103 0.400 None 0.975 81 1996 2020
CUI: C1096616
Disease: Contralateral breast cancer
Contralateral breast cancer 		disease Neoplastic Process 24 4 0.100 None 0.965 57 1998 2019
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases Neoplastic Process 174 1331 0.100 None 0.979 47 1998 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: 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: C3839280
Disease: High grade serous carcinoma
High grade serous carcinoma 		disease Neoplastic Process 118 1 0.100 None 0.955 22 2009 2020
CUI: C0007124
Disease: Noninfiltrating Intraductal Carcinoma
Noninfiltrating Intraductal Carcinoma 		disease Neoplasms Neoplastic Process 486 13 0.100 None 1.000 22 1995 2019
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: 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: 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: 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: 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
CUI: C1710547
Disease: Unilateral Breast Carcinoma
Unilateral Breast Carcinoma 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 7 2 0.100 None 0.933 15 2000 2018
CUI: C0153579
Disease: Malignant neoplasm of fallopian tube
Malignant neoplasm of fallopian tube 		group Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 10 1 0.100 None 1.000 15 2000 2016
CUI: C1257931
Disease: Mammary Neoplasms, Human
Mammary Neoplasms, Human 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 527 0.300 None 1.000 12 1994 2017
CUI: C0281361
Disease: Adenocarcinoma of pancreas
Adenocarcinoma of pancreas 		disease Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process 518 138 0.200 None 1.000 12 1996 2019
CUI: C1514428
Disease: Primary peritoneal carcinoma
Primary peritoneal carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 49 0.500 None 1.000 12 1995 2017
CUI: C0815107
Disease: psychological distress
psychological distress 		disease Mental or Behavioral Dysfunction 87 10 0.100 None 1.000 12 1996 2017
CUI: C4704874
Disease: Mammary Carcinoma, Human
Mammary Carcinoma, Human 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 545 0.300 None 1.000 12 1994 2017