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 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
FANCONI ANEMIA, COMPLEMENTATION GROUP S
disease Disease or Syndrome 1 28 0.700 definitive 1.000 7 28 2013 2019
PANCREATIC CANCER, SUSCEPTIBILITY TO, 4
disease Finding 1 22 0.400 None 1.000 2 22 2003 2018
CUI: C0026684
Disease: Mucocele of appendix
Mucocele of appendix
disease Pathological Conditions, Signs and Symptoms; Neoplasms Disease or Syndrome 1 0.010 None 1.000 1 2013 2013
CUI: C1334753
Disease: Breast Microglandular Adenosis
Breast Microglandular Adenosis
disease Skin and Connective Tissue Diseases Disease or Syndrome 1 0.010 None 1.000 1 2002 2002
PANCREATIC CANCER, SUSCEPTIBILITY TO
phenotype Finding 1 1 0.100 None 0 1
CUI: C0442876
Disease: Occult carcinoma
Occult carcinoma
disease Neoplastic Process 2 0.020 None 1.000 2 2004 2018
CUI: C3274709
Disease: Contralateral Breast Carcinoma
Contralateral Breast Carcinoma
disease Neoplastic Process 2 0.020 None 1.000 2 2002 2006
CUI: C0015558
Disease: Fallopian Tube Neoplasms
Fallopian Tube Neoplasms
group Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 2 0.010 None 1.000 1 2009 2009
Primary serous papillary carcinoma of peritoneum
disease Neoplastic Process 2 0.010 None 1.000 1 2002 2002
FANCONI ANEMIA, COMPLEMENTATION GROUP E
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 2 3 0.010 None 1.000 1 2015 2015
CUI: C3532429
Disease: Usual ductal hyperplasia of breast
Usual ductal hyperplasia of breast
disease Neoplastic Process 2 0.010 None 1.000 1 2010 2010
Hereditary site-specific ovarian cancer syndrome
disease Disease or Syndrome 2 0.300 None 1.000 1 2005 2005
Ovarian Serous Surface Papillary Adenocarcinoma
disease Neoplastic Process 2 2 0.100 None 0 1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
disease Finding 2 2633 0.100 None 0 1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
disease Finding 3 2277 0.700 definitive 1.000 465 2258 1976 2019
CUI: C1266082
Disease: Atypical medullary carcinoma
Atypical medullary carcinoma
disease Neoplastic Process 3 0.040 None 1.000 4 1998 2006
CUI: C0346154
Disease: Malignant phyllodes tumor of breast
Malignant phyllodes tumor of breast
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 3 1 0.010 None 1.000 1 1 2007 2007
CUI: C0347176
Disease: Carcinoma in situ of fallopian tube
Carcinoma in situ of fallopian tube
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 3 0.010 None 1.000 1 2007 2007
FANCONI ANEMIA, COMPLEMENTATION GROUP J
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 3 141 0.010 None 1.000 1 2007 2007
CUI: C0751416
Disease: Pelvic Cancer
Pelvic Cancer
disease Neoplasms Neoplastic Process 4 0.020 None 1.000 2 2008 2012
CUI: C1306878
Disease: Climacteric discomfort
Climacteric discomfort
phenotype Sign or Symptom 4 0.020 None 0.500 2 2018 2019
CUI: C0153662
Disease: Malignant neoplasm of abdomen
Malignant neoplasm of abdomen
disease Neoplasms Neoplastic Process 4 0.010 None 1.000 1 2002 2002
CUI: C0346169
Disease: Ovarian Cystadenoma
Ovarian Cystadenoma
disease Neoplasms Neoplastic Process 4 0.010 None 1.000 1 2004 2004