SETBP1, SET binding protein 1, 26040

N. diseases: 257; N. variants: 28
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.
MENTAL RETARDATION, AUTOSOMAL DOMINANT 29
disease Disease or Syndrome 1 8 0.400 None 1.000 5 8 2010 2017
CUI: C1849307
Disease: Increased density of long bones
Increased density of long bones
phenotype Musculoskeletal Diseases Finding 1 0.100 None 0
CUI: C1849309
Disease: Wide distal femoral metaphysis
Wide distal femoral metaphysis
phenotype Finding 1 0.100 None 0
CUI: C4021532
Disease: Abnormality of the stapes
Abnormality of the stapes
disease Anatomical Abnormality 1 0.100 None 0
CUI: C4025189
Disease: Metopic suture patent to nasal root
Metopic suture patent to nasal root
disease Anatomical Abnormality 1 0.100 None 0
Aplasia/Hypoplasia of the pubic bone
phenotype Finding 2 0.100 None 0
CUI: C0239272
Disease: Elbow stiff
Elbow stiff
phenotype Sign or Symptom 3 0.100 None 0
CUI: C1834386
Disease: Hypoplasia of first ribs
Hypoplasia of first ribs
disease Congenital Abnormality 3 0.100 None 0
Myelodysplastic syndrome, no ICD-O subtype
disease Hemic and Lymphatic Diseases Neoplastic Process 4 0.010 None 1.000 1 2013 2013
CUI: C0265227
Disease: Schinzel-Giedion syndrome
Schinzel-Giedion syndrome
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 5 8 0.770 strong 0.909 11 8 2010 2018
CUI: C1396772
Disease: Hypoplasia of the epiglottis
Hypoplasia of the epiglottis
disease Congenital Abnormality 5 0.100 None 0
CUI: C1840418
Disease: Thickened cortex of long bones
Thickened cortex of long bones
phenotype Finding 6 0.100 None 0
CUI: C3277940
Disease: Generalized hypertrichosis
Generalized hypertrichosis
phenotype Skin and Connective Tissue Diseases Finding 6 4 0.100 None 0
Staphylococcal Scalded Skin Syndrome
disease Infections; Skin and Connective Tissue Diseases Disease or Syndrome 7 0.010 None 1.000 1 2006 2006
CUI: C0338597
Disease: Choroid plexus cyst
Choroid plexus cyst
phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases Finding 7 3 0.100 None 0
CUI: C0559459
Disease: Sacrococcygeal teratoma
Sacrococcygeal teratoma
disease Neoplasms; Musculoskeletal Diseases; Nervous System Diseases Neoplastic Process 7 0.100 None 0
Infantile sensorineural hearing impairment
phenotype Finding 7 4 0.100 None 0
CUI: C1851714
Disease: Sclerosis of skull base
Sclerosis of skull base
phenotype Musculoskeletal Diseases Finding 8 0.100 None 0
CUI: C0423807
Disease: Overcurvature of nail
Overcurvature of nail
phenotype Finding 9 0.100 None 0
CUI: C0575497
Disease: Short sternum
Short sternum
phenotype Finding 9 0.100 None 0
CUI: C1861443
Disease: Facial hemangioma
Facial hemangioma
phenotype Neoplasms Finding 9 2 0.100 None 0
CUI: C0426808
Disease: Long clavicle
Long clavicle
phenotype Finding 10 0.100 None 0
CUI: C0521618
Disease: Stenosis of ureter
Stenosis of ureter
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Anatomical Abnormality 10 0.100 None 0
CUI: C1857500
Disease: Broad alveolar ridges
Broad alveolar ridges
phenotype Finding 10 0.100 None 0
CUI: C1865030
Disease: Hypoplastic pubic bone
Hypoplastic pubic bone
phenotype Finding 10 0.100 None 0