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: C0233514
Disease: Abnormal behavior
Abnormal behavior 		phenotype 0.010 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: C0520966
Disease: Abnormal coordination
Abnormal coordination 		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: C0392702
Disease: Abnormal involuntary movement
Abnormal involuntary movement 		disease 0.100 None 0 1
Entrez Id: 6712
Gene Symbol: SPTBN2
SPTBN2 		spectrin beta, non-erythrocytic 2 0.619 0.731 9.9E-05
CUI: C0234376
Disease: Action Tremor
Action Tremor 		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: C3853540
Disease: Aspirin exacerbated respiratory disease
Aspirin exacerbated respiratory disease 		disease 0.010 None 1.000 1 0 2012 2012
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: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		disease 0.010 None 1.000 1 0 2012 2012
Entrez Id: 6712
Gene Symbol: SPTBN2
SPTBN2 		spectrin beta, non-erythrocytic 2 0.619 0.731 9.9E-05
CUI: C0750937
Disease: Ataxia, Appendicular
Ataxia, Appendicular 		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: 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: 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: C4087347
Disease: Autosomal dominant cerebellar ataxia
Autosomal dominant cerebellar ataxia 		disease 0.010 None 1.000 1 0 1995 1995
Entrez Id: 6712
Gene Symbol: SPTBN2
SPTBN2 		spectrin beta, non-erythrocytic 2 0.619 0.731 9.9E-05
CUI: C0018790
Disease: Cardiac Arrest
Cardiac Arrest 		disease 0.060 None 1.000 6 0 2004 2019
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: 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: C0262404
Disease: Cerebellar degeneration
Cerebellar degeneration 		disease 0.010 None 1.000 1 0 2014 2014
Entrez Id: 6712
Gene Symbol: SPTBN2
SPTBN2 		spectrin beta, non-erythrocytic 2 0.619 0.731 9.9E-05
CUI: C0007760
Disease: Cerebellar Diseases
Cerebellar Diseases 		group 0.020 None 1.000 2 0 2014 2016
Entrez Id: 6712
Gene Symbol: SPTBN2
SPTBN2 		spectrin beta, non-erythrocytic 2 0.619 0.731 9.9E-05
CUI: C0234162
Disease: Cerebellar Dysmetria
Cerebellar Dysmetria 		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: C0206698
Disease: Cholangiocarcinoma
Cholangiocarcinoma 		disease 0.010 None 1.000 1 0 2019 2019
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: C0852975
Disease: Congenital cerebellar ataxia
Congenital cerebellar ataxia 		disease 0.010 None 1.000 1 0 2019 2019
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
Entrez Id: 6712
Gene Symbol: SPTBN2
SPTBN2 		spectrin beta, non-erythrocytic 2 0.619 0.731 9.9E-05
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		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: C0751781
Disease: Dentatorubral-Pallidoluysian Atrophy
Dentatorubral-Pallidoluysian Atrophy 		disease 0.020 None 1.000 2 0 1996 1996
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: C0012569
Disease: Diplopia
Diplopia 		phenotype 0.100 None 0 0