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: C0280220
Disease: stage, ovarian epithelial cancer
stage, ovarian epithelial cancer 		disease Neoplastic Process 65 0.030 None 1.000 3 2005 2017
CUI: C0741682
Disease: Premenopausal breast cancer
Premenopausal breast cancer 		disease Neoplastic Process 51 18 0.030 None 1.000 3 2001 2019
CUI: C1282496
Disease: Metastasis from malignant tumor of prostate
Metastasis from malignant tumor of prostate 		disease Neoplastic Process 342 18 0.030 None 1.000 3 2017 2019
CUI: C2211694
Disease: medullary carcinoma with lymphoid stroma of breast
medullary carcinoma with lymphoid stroma of breast 		disease Neoplastic Process 10 0.030 None 1.000 3 1998 2005
CUI: C3642346
Disease: Luminal B Breast Carcinoma
Luminal B Breast Carcinoma 		disease Neoplastic Process 103 7 0.030 None 1.000 3 2012 2017
CUI: C0220613
Disease: Adult Soft Tissue Sarcoma
Adult Soft Tissue Sarcoma 		disease Neoplastic Process 162 3 0.020 None 1.000 2 2011 2015
CUI: C0220645
Disease: Childhood Soft Tissue Sarcoma
Childhood Soft Tissue Sarcoma 		disease Neoplastic Process 166 3 0.020 None 1.000 2 2011 2015
CUI: C0278487
Disease: Stage III Breast Cancer AJCC v6
Stage III Breast Cancer AJCC v6 		disease Neoplastic Process 12 1 0.020 None 1.000 2 2009 2016
CUI: C0442876
Disease: Occult carcinoma
Occult carcinoma 		disease Neoplastic Process 2 0.020 None 1.000 2 2004 2018
CUI: C0940937
Disease: precancerous lesions
precancerous lesions 		phenotype Neoplastic Process 270 19 0.020 None 1.000 2 2008 2010
CUI: C1306878
Disease: Climacteric discomfort
Climacteric discomfort 		phenotype Sign or Symptom 4 0.020 None 0.500 2 2018 2019
CUI: C1334708
Disease: Metaplastic carcinoma of breast
Metaplastic carcinoma of breast 		disease Neoplastic Process 31 0.020 None 1.000 2 2011 2015
CUI: C1629609
Disease: Age at menopause
Age at menopause 		phenotype Finding 129 209 0.100 None 1.000 2 2 2015 2018
CUI: C2745900
Disease: Promyelocytic leukemia
Promyelocytic leukemia 		disease Neoplastic Process 255 2 0.020 None 1.000 2 1 2011 2016
CUI: C3146271
Disease: Stage III Breast Cancer AJCC v7
Stage III Breast Cancer AJCC v7 		disease Neoplastic Process 12 1 0.020 None 1.000 2 2009 2016
CUI: C3274709
Disease: Contralateral Breast Carcinoma
Contralateral Breast Carcinoma 		disease Neoplastic Process 2 0.020 None 1.000 2 2002 2006
CUI: C3280442
Disease: PANCREATIC CANCER, SUSCEPTIBILITY TO, 4
PANCREATIC CANCER, SUSCEPTIBILITY TO, 4 		disease Finding 1 22 0.400 None 1.000 2 22 2003 2018
CUI: C3642345
Disease: Luminal A Breast Carcinoma
Luminal A Breast Carcinoma 		disease Neoplastic Process 153 11 0.020 None 1.000 2 2014 2015
CUI: C3898127
Disease: Non-Metastatic Childhood Soft Tissue Sarcoma
Non-Metastatic Childhood Soft Tissue Sarcoma 		disease Neoplastic Process 160 3 0.020 None 1.000 2 2011 2015
CUI: C4528557
Disease: Anatomic Stage III Breast Cancer AJCC v8
Anatomic Stage III Breast Cancer AJCC v8 		disease Neoplastic Process 12 1 0.020 None 1.000 2 2009 2016
CUI: C4528588
Disease: Prognostic Stage III Breast Cancer AJCC v8
Prognostic Stage III Breast Cancer AJCC v8 		disease Neoplastic Process 12 1 0.020 None 1.000 2 2009 2016
CUI: C4721421
Disease: Breast cancer stage III
Breast cancer stage III 		disease Neoplastic Process 12 1 0.020 None 1.000 2 2009 2016
CUI: C4733094
Disease: progesterone receptor-positive breast cancer
progesterone receptor-positive breast cancer 		disease Neoplastic Process 28 17 0.020 None 0.500 2 2010 2011
CUI: C0000846
Disease: Agenesis
Agenesis 		disease Congenital Abnormality 161 44 0.010 None 1.000 1 2014 2014
CUI: C0016033
Disease: Nonproliferative fibrocystic disease
Nonproliferative fibrocystic disease 		disease Disease or Syndrome 6 0.010 None 1.000 1 2004 2004