SPTBN2, spectrin beta, non-erythrocytic 2, 6712

N. diseases: 79; N. variants: 11
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: C0557874
Disease: Global developmental delay
Global developmental delay
disease Mental or Behavioral Dysfunction 1825 553 0.440 moderate 1.000 5 2013 2019
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 14
disease Disease or Syndrome 1 3 0.630 None 1.000 3 3 2012 2019
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy
disease Disease or Syndrome 321 67 0.110 None 1.000 1 2010 2010
CUI: C0852975
Disease: Congenital cerebellar ataxia
Congenital cerebellar ataxia
disease Disease or Syndrome 8 2 0.010 None 1.000 1 2019 2019
Autosomal dominant cerebellar ataxia
disease Disease or Syndrome 31 2 0.010 None 1.000 1 1995 1995
CUI: C0271390
Disease: Nystagmus, End-Position
Nystagmus, End-Position
disease Disease or Syndrome 26 2 0.100 None 0
CUI: C1836392
Disease: Dysmetric saccades
Dysmetric saccades
phenotype Finding 18 0.100 None 0
CUI: C1837458
Disease: Impaired smooth pursuit
Impaired smooth pursuit
phenotype Finding 25 1 0.100 None 0
CUI: C1839042
Disease: Upper motor neuron dysfunction
Upper motor neuron dysfunction
phenotype Pathologic Function 16 1 0.100 None 0
CUI: C1853558
Disease: Jerky ocular pursuit movements
Jerky ocular pursuit movements
phenotype Finding 5 0.100 None 0
CUI: C1854494
Disease: Slow progression
Slow progression
phenotype Finding 165 0.100 None 0
CUI: C4551915
Disease: Gait Disturbance, CTCAE
Gait Disturbance, CTCAE
phenotype Finding 299 0.100 None 0
CUI: C4553743
Disease: Spasticity, CTCAE
Spasticity, CTCAE
phenotype Finding 477 0.100 None 0
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior
phenotype Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 910 121 0.010 None 1.000 1 2017 2017
Delayed speech and language development
phenotype Behavior and Behavior Mechanisms Finding 560 192 0.100 None 0
CUI: C0018790
Disease: Cardiac Arrest
Cardiac Arrest
disease Cardiovascular Diseases Disease or Syndrome 411 50 0.060 None 1.000 6 2004 2019
CUI: C0036391
Disease: Schwartz-Jampel Syndrome
Schwartz-Jampel Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 77 12 0.010 None 1.000 1 2018 2018
CUI: C0752123
Disease: Spinocerebellar Ataxia Type 5
Spinocerebellar Ataxia Type 5
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 48 7 1.000 None 0.938 16 5 2006 2019
CUI: C0087012
Disease: Ataxia, Spinocerebellar
Ataxia, Spinocerebellar
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 156 4 0.340 None 1.000 4 2006 2019
Infantile onset spinocerebellar ataxia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 6 10 0.020 None 1.000 2 2013 2019
CUI: C1854369
Disease: Spinocerebellar ataxia 14
Spinocerebellar ataxia 14
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 7 29 0.300 None 1.000 2 2017 2018
Spectrin-associated autosomal recessive cerebellar ataxia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 1 0.020 None 1.000 2 2012 2017
CUI: C0024408
Disease: Machado-Joseph Disease
Machado-Joseph Disease
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 135 12 0.010 None 1.000 1 1995 1995
CUI: C0037952
Disease: Spinocerebellar Degeneration
Spinocerebellar Degeneration
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 14 1 0.010 None 1.000 1 1999 1999
CUI: C0262404
Disease: Cerebellar degeneration
Cerebellar degeneration
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 60 0.010 None 1.000 1 2014 2014