RAD51, RAD51 recombinase, 5888

N. diseases: 363; N. variants: 16
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: C4284093
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP R
FANCONI ANEMIA, COMPLEMENTATION GROUP R 		disease Disease or Syndrome 1 1 0.610 None 1.000 3 1 2015 2016
CUI: C3281089
Disease: MIRROR MOVEMENTS 2
MIRROR MOVEMENTS 2 		disease Disease or Syndrome 1 3 0.600 None 1.000 1 3 2011 2011
CUI: C4016360
Disease: BREAST CANCER, SUSCEPTIBILITY TO, IN BRCA1 AND BRCA2 CARRIERS
BREAST CANCER, SUSCEPTIBILITY TO, IN BRCA1 AND BRCA2 CARRIERS 		phenotype Finding 1 1 0.100 None 0 1
CUI: C1855222
Disease: Delayed proximal femoral epiphyseal ossification
Delayed proximal femoral epiphyseal ossification 		phenotype Finding 3 1 0.100 None 0 1
CUI: C1862102
Disease: BRACHYDACTYLY, TYPE E1
BRACHYDACTYLY, TYPE E1 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Finding 5 3 0.100 None 0 1
CUI: C4025704
Disease: Abnormality of the corticospinal tract
Abnormality of the corticospinal tract 		phenotype Anatomical Abnormality 5 0.100 None 0
CUI: C4476591
Disease: Dysgenesis of the hippocampus
Dysgenesis of the hippocampus 		disease Congenital Abnormality 5 0.100 None 0
CUI: C0153458
Disease: malignant neoplasm of head of pancreas
malignant neoplasm of head of pancreas 		disease Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process 11 0.200 None 1.000 1 2010 2010
CUI: C0153459
Disease: Malignant neoplasm of body of pancreas
Malignant neoplasm of body of pancreas 		disease Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process 11 0.200 None 1.000 1 2010 2010
CUI: C0153460
Disease: Malignant neoplasm of tail of pancreas
Malignant neoplasm of tail of pancreas 		disease Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process 11 0.200 None 1.000 1 2010 2010
CUI: C0153463
Disease: Malignant neoplasm of other specified sites of pancreas
Malignant neoplasm of other specified sites of pancreas 		disease Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process 11 0.200 None 1.000 1 2010 2010
CUI: C3887527
Disease: Fused cervical vertebrae
Fused cervical vertebrae 		disease Congenital Abnormality 15 2 0.100 None 0
CUI: C0857836
Disease: JC virus infection
JC virus infection 		disease Infections Disease or Syndrome 18 0.020 None 1.000 2 2007 2017
CUI: C3160738
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP D2
FANCONI ANEMIA, COMPLEMENTATION GROUP D2 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 19 7 0.020 None 1.000 2 2005 2016
CUI: C3809768
Disease: IMMUNODEFICIENCY 13
IMMUNODEFICIENCY 13 		disease Disease or Syndrome 22 1 0.010 None 1.000 1 2017 2017
CUI: C0281842
Disease: Abnormality of the fallopian tube
Abnormality of the fallopian tube 		phenotype Anatomical 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: C2673410
Disease: Small midface
Small midface 		phenotype Finding 23 24 0.100 None 0 1
CUI: C0018675
Disease: Head Neoplasms
Head Neoplasms 		group Neoplasms Neoplastic Process 24 0.300 None 1.000 1 2012 2012
CUI: C0887900
Disease: Upper Aerodigestive Tract Neoplasms
Upper Aerodigestive Tract Neoplasms 		group Neoplasms Neoplastic Process 24 0.300 None 1.000 1 2012 2012
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: C0746787
Disease: Cancer of Neck
Cancer of Neck 		disease Neoplasms Neoplastic Process 25 0.300 None 1.000 1 2012 2012