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: C1142025
Disease: Stage IV Esophageal Squamous Cell Carcinoma
Stage IV Esophageal Squamous Cell Carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 4 0.010 None 1.000 1 2013 2013
CUI: C1688637
Disease: Intraoperative floppy iris syndrome
Intraoperative floppy iris syndrome 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases Disease or Syndrome 4 0.010 None 1.000 1 2019 2019
CUI: C1835817
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP N
FANCONI ANEMIA, COMPLEMENTATION GROUP N 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 4 13 0.010 None 1.000 1 2011 2011
CUI: C3888504
Disease: HER-2 protein overexpression
HER-2 protein overexpression 		disease Disease or Syndrome 4 0.010 None 1.000 1 2002 2002
CUI: C4016282
Disease: BREAST CANCER, SOMATIC
BREAST CANCER, SOMATIC 		disease Neoplastic Process 4 1 0.010 None 1.000 1 2000 2000
CUI: C0278497
Disease: Malignant neoplasm of stomach stage III
Malignant neoplasm of stomach stage III 		disease Neoplastic Process 5 0.010 None 1.000 1 2017 2017
CUI: C2677792
Disease: Riddle Syndrome
Riddle Syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Immune System Diseases; Nervous System Diseases; Mental Disorders Disease or Syndrome 5 1 0.010 None 1.000 1 2009 2009
CUI: C2986662
Disease: Multifocal breast carcinoma
Multifocal breast carcinoma 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 5 1 0.010 None 1.000 1 2001 2001
CUI: C1842408
Disease: increased risk of pancreatic cancer
increased risk of pancreatic cancer 		phenotype Neoplasms Finding 5 6 0.100 None 0 1
CUI: C0346185
Disease: Dysgerminoma of ovary
Dysgerminoma of ovary 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process 6 0.020 None 1.000 2 2000 2007
CUI: C0740421
Disease: Postsurgical menopause
Postsurgical menopause 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 6 2 0.020 None 1.000 2 2012 2018
CUI: C0016033
Disease: Nonproliferative fibrocystic disease
Nonproliferative fibrocystic disease 		disease Disease or Syndrome 6 0.010 None 1.000 1 2004 2004
CUI: C0920506
Disease: Environment-Related Malignant Neoplasm
Environment-Related Malignant Neoplasm 		disease Neoplasms Neoplastic Process 6 2 0.010 None 1.000 1 2013 2013
CUI: C1861906
Disease: Breast Cancer, Familial Male
Breast Cancer, Familial Male 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6 0.010 None 1.000 1 1994 1994
CUI: C1866260
Disease: Peroxisome Biogenesis Disorder, Complementation Group H
Peroxisome Biogenesis Disorder, Complementation Group H 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 6 0.010 None 1.000 1 2011 2011
CUI: C2216695
Disease: malignant neoplasm of breast stage I
malignant neoplasm of breast stage I 		disease Neoplastic Process 6 0.010 None 1.000 1 2013 2013
CUI: C4528551
Disease: Anatomic Stage I Breast Cancer AJCC v8
Anatomic Stage I Breast Cancer AJCC v8 		disease Neoplastic Process 6 0.010 None 1.000 1 2013 2013
CUI: C4528571
Disease: Prognostic Stage I Breast Cancer AJCC v8
Prognostic Stage I Breast Cancer AJCC v8 		disease Neoplastic Process 6 0.010 None 1.000 1 2013 2013
CUI: C3842001
Disease: Adult only
Adult only 		phenotype Finding 6 0.300 strong 0
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: 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: C0349571
Disease: Pleomorphic adenoma of parotid gland
Pleomorphic adenoma of parotid gland 		disease Neoplasms; Stomatognathic Diseases Neoplastic Process 7 0.010 None 1.000 1 2009 2009
CUI: C0278485
Disease: Carcinoma breast stage I
Carcinoma breast stage I 		disease Neoplastic Process 8 0.010 None 1.000 1 2013 2013
CUI: C0496779
Disease: Malignant neoplasm of appendix
Malignant neoplasm of appendix 		disease Digestive System Diseases; Neoplasms Neoplastic Process 8 2 0.010 None 1.000 1 2013 2013
CUI: C0751366
Disease: Radiation-Induced Cancer
Radiation-Induced Cancer 		disease Neoplasms; Wounds and Injuries Neoplastic Process 8 0.010 None 1.000 1 2001 2001