SON, SON DNA binding protein, 6651

N. diseases: 154; N. variants: 27
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: C4310696
Disease: Zhu-Tokita-Takenouchi-Kim syndrome
Zhu-Tokita-Takenouchi-Kim syndrome 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 1 20 0.710 None 1.000 5 20 2015 2019
CUI: C0398709
Disease: Secretory Component Deficiency
Secretory Component Deficiency 		disease Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 1 0.100 None 0
CUI: C4073203
Disease: Abnormal common carotid artery morphology
Abnormal common carotid artery morphology 		phenotype Anatomical Abnormality 1 0.100 None 0
CUI: C2931364
Disease: Thrombocytopenia Robin sequence
Thrombocytopenia Robin sequence 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 2 0.010 None 1.000 1 2016 2016
CUI: C0431698
Disease: Bilateral renal dysplasia
Bilateral renal dysplasia 		disease Congenital Abnormality 2 0.100 None 0
CUI: C1837733
Disease: Broad lateral eyebrow
Broad lateral eyebrow 		phenotype Finding 2 2 0.100 None 0
CUI: C1865119
Disease: Progressive ventriculomegaly
Progressive ventriculomegaly 		phenotype Finding 2 1 0.100 None 0
CUI: C4022154
Disease: Cerebellar hemisphere hypoplasia
Cerebellar hemisphere hypoplasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders Anatomical Abnormality 2 0.100 None 0
CUI: C4082952
Disease: Unilateral lung agenesis
Unilateral lung agenesis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases Congenital Abnormality 2 0.100 None 0
CUI: C4023249
Disease: Patent ductus arteriosus after birth at term
Patent ductus arteriosus after birth at term 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 4 1 0.100 None 0
CUI: C0577063
Disease: Gallbladder absent
Gallbladder absent 		phenotype Finding 5 0.100 None 0
CUI: C1856877
Disease: Hyperextensible hand joints
Hyperextensible hand joints 		phenotype Finding 5 3 0.100 None 0
CUI: C0266251
Disease: Gallbladder, Agenesis Of
Gallbladder, Agenesis Of 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 7 0.100 None 0
CUI: C0158779
Disease: Cervical rib
Cervical rib 		disease Congenital Abnormality 11 0.100 None 0
CUI: C1849043
Disease: Soft, doughy skin
Soft, doughy skin 		phenotype Finding 11 4 0.100 None 0
CUI: C4023175
Disease: Submucous cleft soft palate
Submucous cleft soft palate 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality 11 1 0.100 None 0
CUI: C4023808
Disease: Hyperextensibility at elbow
Hyperextensibility at elbow 		phenotype Anatomical Abnormality 11 7 0.100 None 0
CUI: C0233762
Disease: Hallucinations, Auditory
Hallucinations, Auditory 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Sign or Symptom 14 4 0.100 None 0
CUI: C0272278
Disease: Congenital thrombocytopenia
Congenital thrombocytopenia 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 19 3 0.010 None 1.000 1 2016 2016
CUI: C0878660
Disease: Proportionate short stature
Proportionate short stature 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Finding 19 11 0.100 None 0
CUI: C0241391
Disease: Thumb absent
Thumb absent 		phenotype Finding 21 0.100 None 0
CUI: C3278811
Disease: Thumb aplasia
Thumb aplasia 		disease Musculoskeletal Diseases Congenital Abnormality 22 0.100 None 0
CUI: C1856409
Disease: Dilation of lateral ventricles
Dilation of lateral ventricles 		phenotype Finding 23 3 0.100 None 0
CUI: C0558165
Disease: Curly hair (finding)
Curly hair (finding) 		phenotype Finding 24 7 0.100 None 0
CUI: C0431369
Disease: Dysgenesis of corpus callosum
Dysgenesis of corpus callosum 		disease Congenital Abnormality 25 3 0.100 None 0