BRCA1, BRCA1 DNA repair associated, 672

N. diseases: 5; N. variants: 98
Source: UNIPROT ×
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: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 579 375 1.000 strong 0.956 22 88 1992 2020
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process 15 31 0.800 strong 0.965 4 10 1992 2020
CUI: C2676676
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 		disease Finding 1 5 0.700 definitive 1.000 4 5 1976 2019
CUI: C4554406
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP S
FANCONI ANEMIA, COMPLEMENTATION GROUP S 		disease Disease or Syndrome 1 2 0.700 definitive 1.000 3 2 2013 2019
CUI: C1336076
Disease: Sporadic Breast Carcinoma
Sporadic Breast Carcinoma 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 1 1 0.400 None 0.970 0 1 1994 2019