RAD51C, RAD51 paralog C, 5889

N. diseases: 162; N. variants: 96
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: C3150653
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP O
FANCONI ANEMIA, COMPLEMENTATION GROUP O 		disease Disease or Syndrome 1 63 0.710 moderate 1.000 43 63 2003 2018
CUI: C3150659
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 3
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 3 		disease Finding 1 25 0.700 None 1.000 22 25 2003 2017
CUI: C0270721
Disease: Cerebral ataxia
Cerebral ataxia 		disease Nervous System Diseases Disease or Syndrome 2 0.010 None 1.000 1 2016 2016
CUI: C0549173
Disease: Congenital atresia of rectum
Congenital atresia of rectum 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Congenital Abnormality 2 0.100 None 0
CUI: C0948303
Disease: Carcinoma of peritoneum
Carcinoma of peritoneum 		disease Neoplastic Process 10 0.010 None 1.000 1 2016 2016
CUI: C0152095
Disease: Patau syndrome
Patau syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 15 1 0.010 None 1.000 1 2018 2018
CUI: C0241391
Disease: Thumb absent
Thumb absent 		phenotype Finding 21 0.100 None 0
CUI: C0281842
Disease: Abnormality of the fallopian tube
Abnormality of the fallopian tube 		phenotype Anatomical Abnormality 22 0.100 None 0
CUI: C3278811
Disease: Thumb aplasia
Thumb aplasia 		disease Musculoskeletal Diseases Congenital Abnormality 22 0.100 None 0
CUI: C4022016
Disease: Abnormality of the preputium
Abnormality of the preputium 		disease Anatomical Abnormality 22 0.100 None 0
CUI: C4023917
Disease: Aplasia/Hypoplasia of the uvula
Aplasia/Hypoplasia of the uvula 		phenotype Anatomical Abnormality 22 0.100 None 0
CUI: C4025071
Disease: Aplasia/Hypoplasia of fingers
Aplasia/Hypoplasia of fingers 		phenotype Anatomical Abnormality 22 0.100 None 0
CUI: C0272027
Disease: Pyridoxine-responsive sideroblastic anemia
Pyridoxine-responsive sideroblastic anemia 		disease Hemic and Lymphatic Diseases Disease or Syndrome 24 0.100 None 0
CUI: C0342526
Disease: Absent testes
Absent testes 		phenotype Finding 24 0.100 None 0
CUI: C1446712
Disease: Overlapping fingers
Overlapping fingers 		disease Acquired Abnormality 27 2 0.010 None 1.000 1 2018 2018
CUI: C0238093
Disease: Stenosis of duodenum
Stenosis of duodenum 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Anatomical Abnormality 29 1 0.100 None 0
CUI: C1855333
Disease: External genital hypoplasia
External genital hypoplasia 		phenotype Finding 29 2 0.100 None 0
CUI: C4025756
Disease: Abnormal aortic morphology
Abnormal aortic morphology 		disease Anatomical Abnormality 29 1 0.100 None 0
CUI: C0151640
Disease: Decreased fertility in males
Decreased fertility in males 		phenotype Male Urogenital Diseases Finding 30 0.100 None 0
CUI: C3887489
Disease: Clubbing of toes
Clubbing of toes 		disease Anatomical Abnormality 30 0.100 None 0
CUI: C0281267
Disease: bilateral breast cancer
bilateral breast cancer 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 31 17 0.010 None 1.000 1 2012 2012
CUI: C4025211
Disease: Abnormal carotid artery morphology
Abnormal carotid artery morphology 		disease Anatomical Abnormality 32 0.100 None 0
CUI: C4021750
Disease: Abnormality of femur morphology
Abnormality of femur morphology 		disease Anatomical Abnormality 33 1 0.100 None 0
CUI: C4228778
Disease: Abnormality of radial ray
Abnormality of radial ray 		phenotype Finding 34 0.300 moderate 1.000 1 2018 2018
CUI: C4551705
Disease: Abnormality of chromosome stability
Abnormality of chromosome stability 		phenotype Cell or Molecular Dysfunction 34 1 0.100 None 0