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: C1837731
Disease: Overfolded helix
Overfolded helix 		phenotype Finding 46 7 0.100 None 0 1
CUI: C0025037
Disease: Meckel Diverticulum
Meckel Diverticulum 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Congenital Abnormality 63 0.100 None 0
CUI: C0241397
Disease: Triphalangeal thumb
Triphalangeal thumb 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 56 15 0.100 None 0
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases Congenital Abnormality 497 70 0.100 None 0
CUI: C3887489
Disease: Clubbing of toes
Clubbing of toes 		disease Anatomical Abnormality 30 0.100 None 0
CUI: C0025990
Disease: Micrognathism
Micrognathism 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality 586 53 0.100 None 0
CUI: C1857679
Disease: Sloping forehead
Sloping forehead 		phenotype Finding 149 5 0.100 None 0
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 340 56 0.100 None 0
CUI: C1860236
Disease: Irregular hyperpigmentation
Irregular hyperpigmentation 		phenotype Skin and Connective Tissue Diseases Finding 55 2 0.100 None 0
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		phenotype Hemic and Lymphatic Diseases Disease or Syndrome 592 110 0.100 None 0
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 967 579 0.100 None 0 1
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: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 2165 159 0.100 None 0
CUI: C0026985
Disease: Myelodysplasia
Myelodysplasia 		disease Congenital Abnormality 181 4 0.100 None 0
CUI: C0027092
Disease: Myopia
Myopia 		disease Eye Diseases Disease or Syndrome 490 167 0.100 None 0 1
CUI: C1857453
Disease: Renal hypoplasia/aplasia
Renal hypoplasia/aplasia 		phenotype Finding 73 2 0.100 None 0
CUI: C3887527
Disease: Fused cervical vertebrae
Fused cervical vertebrae 		disease Congenital Abnormality 15 2 0.100 None 0
CUI: C1846460
Disease: Abnormality of the outer ear
Abnormality of the outer ear 		disease Anatomical Abnormality 95 8 0.100 None 0
CUI: C1849020
Disease: Short metatarsal
Short metatarsal 		phenotype Finding 34 1 0.100 None 0 1
CUI: C0544886
Disease: Somatic mutation
Somatic mutation 		phenotype Cell or Molecular Dysfunction 151 0.100 None 0
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		disease Congenital Abnormality 284 39 0.100 None 0 1
CUI: C4021750
Disease: Abnormality of femur morphology
Abnormality of femur morphology 		disease Anatomical Abnormality 33 1 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: C1855222
Disease: Delayed proximal femoral epiphyseal ossification
Delayed proximal femoral epiphyseal ossification 		phenotype Finding 3 1 0.100 None 0 1
CUI: C4020968
Disease: Abnormal localization of kidney
Abnormal localization of kidney 		disease Anatomical Abnormality 40 0.100 None 0