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: C3809327
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 14
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 14 		disease Disease or Syndrome 1 3 0.630 None 1.000 3 3 2012 2019
CUI: C4706415
Disease: Spectrin-associated autosomal recessive cerebellar ataxia
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: C0339666
Disease: Nystagmus and other irregular eye movements
Nystagmus and other irregular eye movements 		phenotype Eye Diseases; Nervous System Diseases Finding 1 1 0.100 None 0 1
CUI: C0270871
Disease: Facial Myokymia
Facial Myokymia 		phenotype Nervous System Diseases; Stomatognathic Diseases Disease or Syndrome 5 1 0.110 None 1.000 1 2013 2013
CUI: C1853558
Disease: Jerky ocular pursuit movements
Jerky ocular pursuit movements 		phenotype Finding 5 0.100 None 0
CUI: C1849096
Disease: Infantile onset spinocerebellar ataxia
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
CUI: C1835265
Disease: Lymphedema, microcephaly and chorioretinopathy syndrome
Lymphedema, microcephaly and chorioretinopathy syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 7 23 0.010 None 1.000 1 2019 2019
CUI: C0852975
Disease: Congenital cerebellar ataxia
Congenital cerebellar ataxia 		disease Disease or Syndrome 8 2 0.010 None 1.000 1 2019 2019
CUI: C4551521
Disease: Kinetic tremor
Kinetic tremor 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 13 5 0.100 None 0 1
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: C1839042
Disease: Upper motor neuron dysfunction
Upper motor neuron dysfunction 		phenotype Pathologic Function 16 1 0.100 None 0
CUI: C1836392
Disease: Dysmetric saccades
Dysmetric saccades 		phenotype Finding 18 0.100 None 0
CUI: C1853761
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 21 27 0.010 None 1.000 1 2019 2019
CUI: C1843885
Disease: Progressive gait ataxia
Progressive gait ataxia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 21 3 0.100 None 0
CUI: C0392702
Disease: Abnormal involuntary movement
Abnormal involuntary movement 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 22 10 0.100 None 0 1
CUI: C1837458
Disease: Impaired smooth pursuit
Impaired smooth pursuit 		phenotype Finding 25 1 0.100 None 0
CUI: C0271390
Disease: Nystagmus, End-Position
Nystagmus, End-Position 		disease Disease or Syndrome 26 2 0.100 None 0
CUI: C4087347
Disease: Autosomal dominant cerebellar ataxia
Autosomal dominant cerebellar ataxia 		disease Disease or Syndrome 31 2 0.010 None 1.000 1 1995 1995
CUI: C1295585
Disease: Decreased vibratory sense
Decreased vibratory sense 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 33 8 0.100 None 0
CUI: C0752122
Disease: Spinocerebellar Ataxia Type 4
Spinocerebellar Ataxia Type 4 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 36 0.300 None 0
CUI: C0700636
Disease: Focal nodular hyperplasia of liver
Focal nodular hyperplasia of liver 		disease Digestive System Diseases Disease or Syndrome 39 0.010 None 1.000 1 2019 2019
CUI: C0234518
Disease: Slurred speech
Slurred speech 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 39 10 0.100 None 0
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 43 192 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