RAD51C, RAD51 paralog C, 5889

N. diseases: 80; N. variants: 52
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: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
disease Endocrine System Diseases; Female Urogenital Diseases and Pregnancy Complications; Neoplasms Neoplastic Process 2025 244 0.800 definitive 0.966 31 4 2010 2018
FANCONI ANEMIA, COMPLEMENTATION GROUP O
disease Disease or Syndrome 1 38 0.700 moderate 38 38 2003 2017
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 3
phenotype Finding 1 22 0.600 22 22 2003 2017
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 289 91 0.600 1.000 15 2010 2016
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 4962 1839 0.500 0.882 19 1 2010 2018
BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 3
phenotype Finding 1 4 0.500 3 4 2010 2014
OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 3
phenotype Finding 1 4 0.500 3 4 2010 2014
Hereditary Breast and Ovarian Cancer Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases; Female Urogenital Diseases and Pregnancy Complications; Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 51 1572 0.470 1.000 13 5 2011 2017
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
disease Endocrine System Diseases; Female Urogenital Diseases and Pregnancy Complications; Neoplasms Neoplastic Process 937 83 0.410 < 0.001 2 2010 2012
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 5053 1365 0.400 0.882 19 1 2010 2018
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group Behavior and Behavior Mechanisms; Mental Disorders; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 2502 53 0.400 limited 1 2010 2010
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 153 705 0.320 disputed 0.500 8 1 1988 2015
CUI: C0158995
Disease: Congenital anemia
Congenital anemia
disease Disease or Syndrome 208 0.300 moderate 2 2010 2012
CUI: C0376545
Disease: Hematologic Neoplasms
Hematologic Neoplasms
group Hemic and Lymphatic Diseases; Neoplasms Neoplastic Process 556 37 0.300 strong 2 2017 2017
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
group Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 2386 303 0.300 2 2010 2017
CUI: C1257931
Disease: Mammary Neoplasms, Human
Mammary Neoplasms, Human
group Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 475 0.300 2 2010 2017
CUI: C0010828
Disease: Cytopenia
Cytopenia
phenotype Pathologic Function 206 0.300 moderate 2 2010 2012
CUI: C4025414
Disease: Radial club hand
Radial club hand
disease Congenital Abnormality 58 0.300 moderate 2 2010 2012
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
group Neoplasms Neoplastic Process 1437 87 0.300 0
CUI: C0431350
Disease: Primary microcephaly
Primary microcephaly
disease Congenital Abnormality 115 9 0.300 moderate 0
Esophageal atresia with or without tracheoesophageal fistula
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Disease or Syndrome 27 8 0.300 0
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms Neoplastic Process 76 4866 0.100 41 38 2002 2018
CUI: C0029925
Disease: Ovarian Carcinoma
Ovarian Carcinoma
disease Neoplastic Process 2202 316 0.100 0.969 32 4 2010 2018
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
disease Disease or Syndrome 248 57 0.100 1.000 13 2010 2016
CUI: C4020875
Disease: Mental and motor retardation
Mental and motor retardation
phenotype Pathologic Function 1020 151 0.100 0