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: 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: 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: 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: 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: 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: 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: C4706415
Disease: Spectrin-associated autosomal recessive cerebellar ataxia
Spectrin-associated autosomal recessive cerebellar ataxia 		disease 0.020 None 1.000 2 0 2012 2017
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: C1849096
Disease: Infantile onset spinocerebellar ataxia
Infantile onset spinocerebellar ataxia 		disease 0.020 None 1.000 2 0 2013 2019
Entrez Id: 6712
Gene Symbol: SPTBN2
SPTBN2 		spectrin beta, non-erythrocytic 2 0.619 0.731 9.9E-05
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		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: 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: 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: C0020179
Disease: Huntington Disease
Huntington Disease 		disease 0.010 None 1.000 1 0 1999 1999
Entrez Id: 6712
Gene Symbol: SPTBN2
SPTBN2 		spectrin beta, non-erythrocytic 2 0.619 0.731 9.9E-05
CUI: C0206669
Disease: Hepatocellular Adenoma
Hepatocellular Adenoma 		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: 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: C0700636
Disease: Focal nodular hyperplasia of liver
Focal nodular hyperplasia of liver 		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: 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: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		disease 0.010 None 1.000 1 0 2018 2018
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: C0024408
Disease: Machado-Joseph Disease
Machado-Joseph Disease 		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: 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: 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: 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: C1853761
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1 		disease 0.010 None 1.000 1 0 2019 2019