Source: ALL

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 6712
Gene Symbol: SPTBN2
SPTBN2 		spectrin beta, non-erythrocytic 2 0.619 0.731 9.9E-05
CUI: C0752123
Disease: Spinocerebellar Ataxia Type 5
Spinocerebellar Ataxia Type 5 		disease 1.000 None 0.938 16 5 2006 2019
Entrez Id: 6712
Gene Symbol: SPTBN2
SPTBN2 		spectrin beta, non-erythrocytic 2 0.619 0.731 9.9E-05
CUI: C3809327
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 14
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 14 		disease 0.630 None 1.000 3 3 2012 2019
Entrez Id: 6712
Gene Symbol: SPTBN2
SPTBN2 		spectrin beta, non-erythrocytic 2 0.619 0.731 9.9E-05
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.440 moderate 1.000 5 0 2013 2019
Entrez Id: 6712
Gene Symbol: SPTBN2
SPTBN2 		spectrin beta, non-erythrocytic 2 0.619 0.731 9.9E-05
CUI: C0087012
Disease: Ataxia, Spinocerebellar
Ataxia, Spinocerebellar 		disease 0.340 None 1.000 4 0 2006 2019
Entrez Id: 6712
Gene Symbol: SPTBN2
SPTBN2 		spectrin beta, non-erythrocytic 2 0.619 0.731 9.9E-05
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		disease 0.310 None 1.000 1 0 2008 2008
Entrez Id: 6712
Gene Symbol: SPTBN2
SPTBN2 		spectrin beta, non-erythrocytic 2 0.619 0.731 9.9E-05
CUI: C1854369
Disease: Spinocerebellar ataxia 14
Spinocerebellar ataxia 14 		disease 0.300 None 1.000 2 0 2017 2018
Entrez Id: 6712
Gene Symbol: SPTBN2
SPTBN2 		spectrin beta, non-erythrocytic 2 0.619 0.731 9.9E-05
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		phenotype 0.300 moderate 1.000 1 0 2017 2017
Entrez Id: 6712
Gene Symbol: SPTBN2
SPTBN2 		spectrin beta, non-erythrocytic 2 0.619 0.731 9.9E-05
CUI: C0598589
Disease: Inherited neuropathies
Inherited neuropathies 		disease 0.300 None 1.000 1 0 2017 2017
Entrez Id: 6712
Gene Symbol: SPTBN2
SPTBN2 		spectrin beta, non-erythrocytic 2 0.619 0.731 9.9E-05
CUI: C0752125
Disease: Spinocerebellar Ataxia Type 7
Spinocerebellar Ataxia Type 7 		disease 0.300 None 0 0
Entrez Id: 6712
Gene Symbol: SPTBN2
SPTBN2 		spectrin beta, non-erythrocytic 2 0.619 0.731 9.9E-05
CUI: C0752122
Disease: Spinocerebellar Ataxia Type 4
Spinocerebellar Ataxia Type 4 		disease 0.300 None 0 0
Entrez Id: 6712
Gene Symbol: SPTBN2
SPTBN2 		spectrin beta, non-erythrocytic 2 0.619 0.731 9.9E-05
CUI: C0752121
Disease: Spinocerebellar Ataxia Type 2
Spinocerebellar Ataxia Type 2 		disease 0.300 None 0 0
Entrez Id: 6712
Gene Symbol: SPTBN2
SPTBN2 		spectrin beta, non-erythrocytic 2 0.619 0.731 9.9E-05
CUI: C0752120
Disease: Spinocerebellar Ataxia Type 1
Spinocerebellar Ataxia Type 1 		disease 0.300 None 0 0
Entrez Id: 6712
Gene Symbol: SPTBN2
SPTBN2 		spectrin beta, non-erythrocytic 2 0.619 0.731 9.9E-05
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		disease 0.300 None 0 0
Entrez Id: 6712
Gene Symbol: SPTBN2
SPTBN2 		spectrin beta, non-erythrocytic 2 0.619 0.731 9.9E-05
CUI: C0752124
Disease: Spinocerebellar Ataxia Type 6 (disorder)
Spinocerebellar Ataxia Type 6 (disorder) 		disease 0.300 None 0 0
Entrez Id: 6712
Gene Symbol: SPTBN2
SPTBN2 		spectrin beta, non-erythrocytic 2 0.619 0.731 9.9E-05
CUI: C0004134
Disease: Ataxia
Ataxia 		phenotype 0.170 None 1.000 7 2 2006 2018
Entrez Id: 6712
Gene Symbol: SPTBN2
SPTBN2 		spectrin beta, non-erythrocytic 2 0.619 0.731 9.9E-05
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		disease 0.140 None 0.750 4 0 2012 2020
Entrez Id: 6712
Gene Symbol: SPTBN2
SPTBN2 		spectrin beta, non-erythrocytic 2 0.619 0.731 9.9E-05
CUI: C0393525
Disease: Progressive cerebellar ataxia
Progressive cerebellar ataxia 		disease 0.110 None 1.000 1 0 2010 2010
Entrez Id: 6712
Gene Symbol: SPTBN2
SPTBN2 		spectrin beta, non-erythrocytic 2 0.619 0.731 9.9E-05
CUI: C0270871
Disease: Facial Myokymia
Facial Myokymia 		phenotype 0.110 None 1.000 1 0 2013 2013
Entrez Id: 6712
Gene Symbol: SPTBN2
SPTBN2 		spectrin beta, non-erythrocytic 2 0.619 0.731 9.9E-05
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		disease 0.110 None 1.000 1 0 2010 2010
Entrez Id: 6712
Gene Symbol: SPTBN2
SPTBN2 		spectrin beta, non-erythrocytic 2 0.619 0.731 9.9E-05
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		phenotype 0.100 None 1.000 10 2 2006 2020
Entrez Id: 6712
Gene Symbol: SPTBN2
SPTBN2 		spectrin beta, non-erythrocytic 2 0.619 0.731 9.9E-05
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype 0.100 None 1.000 8 1 2006 2017
Entrez Id: 6712
Gene Symbol: SPTBN2
SPTBN2 		spectrin beta, non-erythrocytic 2 0.619 0.731 9.9E-05
CUI: C1839042
Disease: Upper motor neuron dysfunction
Upper motor neuron dysfunction 		phenotype 0.100 None 0 0
Entrez Id: 6712
Gene Symbol: SPTBN2
SPTBN2 		spectrin beta, non-erythrocytic 2 0.619 0.731 9.9E-05
CUI: C4553743
Disease: Spasticity, CTCAE
Spasticity, CTCAE 		phenotype 0.100 None 0 0
Entrez Id: 6712
Gene Symbol: SPTBN2
SPTBN2 		spectrin beta, non-erythrocytic 2 0.619 0.731 9.9E-05
CUI: C0427190
Disease: Ataxia, Truncal
Ataxia, Truncal 		phenotype 0.100 None 0 0
Entrez Id: 6712
Gene Symbol: SPTBN2
SPTBN2 		spectrin beta, non-erythrocytic 2 0.619 0.731 9.9E-05
CUI: C1295585
Disease: Decreased vibratory sense
Decreased vibratory sense 		phenotype 0.100 None 0 0