SON, SON DNA binding protein, 6651

N. diseases: 78; N. variants: 9
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: ZTTK SYNDROME
ZTTK SYNDROME
disease Disease or Syndrome 1 7 0.700 4 7 2016 2017
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 strong 0
CUI: C0036095
Disease: Salivary Gland Neoplasms
Salivary Gland Neoplasms
group Neoplasms; Stomatognathic Diseases Neoplastic Process 81 3 0.300 1 2007 2007
Malignant neoplasm of salivary gland
disease Neoplasms; Stomatognathic Diseases Neoplastic Process 68 0.300 1 2007 2007
CUI: C0010606
Disease: Adenoid Cystic Carcinoma
Adenoid Cystic Carcinoma
disease Neoplasms Neoplastic Process 207 29 0.300 1 2007 2007
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 506 827 0.100 28 3 1988 2017
CUI: C0231246
Disease: Failure to gain weight
Failure to gain weight
phenotype Finding 538 22 0.100 1 5 2017 2017
CUI: C4020875
Disease: Mental and motor retardation
Mental and motor retardation
phenotype Pathologic Function 1020 151 0.100 1 5 2017 2017
CUI: C1855009
Disease: Psychomotor regression in infants
Psychomotor regression in infants
phenotype Finding 152 9 0.100 0
CUI: C1850530
Disease: Flexion contractures of joints
Flexion contractures of joints
phenotype Anatomical Abnormality 134 0.100 0
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide
phenotype Finding 332 4 0.100 0
CUI: C1848673
Disease: Hypoplastic feet
Hypoplastic feet
phenotype Finding 102 3 0.100 0
CUI: C1845112
Disease: Hyperkyphosis
Hyperkyphosis
phenotype Acquired Abnormality 156 0.100 0
CUI: C1850493
Disease: Psychomotor regression, progressive
Psychomotor regression, progressive
phenotype Finding 149 0.100 0
CUI: C1844820
Disease: Range of joint movement increased
Range of joint movement increased
phenotype Finding 51 8 0.100 0
CUI: C1843367
Disease: Poor school performance
Poor school performance
phenotype Finding 984 116 0.100 0
CUI: C1842083
Disease: Abnormality of the ribs
Abnormality of the ribs
phenotype Anatomical Abnormality 50 0.100 0
CUI: C1836830
Disease: Developmental regression
Developmental regression
disease Disease or Syndrome 153 2 0.100 0
CUI: C1836550
Disease: Loss of developmental milestones
Loss of developmental milestones
phenotype Finding 149 0.100 0
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge
phenotype Finding 276 3 0.100 0
CUI: C1306710
Disease: Facial asymmetry
Facial asymmetry
phenotype Pathological Conditions, Signs and Symptoms Finding 45 2 0.100 0
CUI: C0917816
Disease: Mental deficiency
Mental deficiency
disease Behavior and Behavior Mechanisms; Mental Disorders; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 1031 0.100 0
CUI: C4531021
Disease: Undergrowth
Undergrowth
phenotype Finding 528 0.100 0
CUI: C1855019
Disease: Psychomotor regression
Psychomotor regression
phenotype Finding 149 0.100 0
Psychomotor regression beginning in infancy
phenotype Finding 149 0.100 0