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.
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
disease Finding 3 2277 0.700 definitive 1.000 465 2258 1976 2019
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
disease Disease or Syndrome 1075 276 0.100 None 0.972 72 2 1993 2019
CUI: C1096616
Disease: Contralateral breast cancer
Contralateral breast cancer
disease Neoplastic Process 24 4 0.100 None 0.965 57 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
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: C0278488
Disease: Carcinoma breast stage IV
Carcinoma breast stage IV
disease Neoplastic Process 573 14 0.100 None 0.900 20 2008 2020
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
phenotype Neoplastic Process 6626 169 0.100 None 0.941 17 1999 2019
CUI: C0815107
Disease: psychological distress
psychological distress
disease Mental or Behavioral Dysfunction 87 10 0.100 None 1.000 12 1996 2017
BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
phenotype Finding 1 0.300 definitive 1.000 10 1994 2005
OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
phenotype Finding 1 0.300 definitive 1.000 10 1994 2005
Serous Tubal Intraepithelial Carcinoma
disease Neoplastic Process 33 0.100 None 1.000 10 2009 2020
estrogen receptor-negative breast cancer
disease Neoplastic Process 356 40 0.100 None 1.000 10 2002 2017
CUI: C0948303
Disease: Carcinoma of peritoneum
Carcinoma of peritoneum
disease Neoplastic Process 10 0.090 None 1.000 9 2000 2018
CUI: C1608408
Disease: Malignant transformation
Malignant transformation
phenotype Neoplastic Process 1027 20 0.090 None 1.000 9 1 2000 2018
CUI: C3495917
Disease: Advanced breast cancer
Advanced breast cancer
disease Neoplastic Process 151 3 0.080 None 1.000 8 2009 2019
CUI: C0860580
Disease: Medullary carcinoma of breast
Medullary carcinoma of breast
disease Neoplastic Process 15 2 0.070 None 1.000 7 1 1998 2014
Oestrogen receptor positive breast cancer
disease Neoplastic Process 510 58 0.070 None 0.857 7 2010 2018
FANCONI ANEMIA, COMPLEMENTATION GROUP S
disease Disease or Syndrome 1 28 0.700 definitive 1.000 7 28 2013 2019
Metastatic castration-resistant prostate cancer
disease Neoplastic Process 140 2 0.060 None 1.000 6 2016 2019
CUI: C1512127
Disease: HER2 gene amplification
HER2 gene amplification
disease Disease or Syndrome 170 14 0.050 None 1.000 5 1996 2017
CUI: C4733095
Disease: HER2-negative breast cancer
HER2-negative breast cancer
disease Neoplastic Process 160 18 0.050 None 1.000 5 2011 2019
CUI: C0862506
Disease: Borderline ovarian tumour
Borderline ovarian tumour
disease Neoplastic Process 54 0.040 None 0.500 4 1996 2007
CUI: C1266082
Disease: Atypical medullary carcinoma
Atypical medullary carcinoma
disease Neoplastic Process 3 0.040 None 1.000 4 1998 2006
CUI: C0236075
Disease: Menopausal symptom
Menopausal symptom
phenotype Sign or Symptom 17 4 0.030 None 1.000 3 2016 2019