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: C0751690
Disease: Malignant Peripheral Nerve Sheath Tumor
Malignant Peripheral Nerve Sheath Tumor 		disease 0.010 None 1.000 1 0 2015 2015
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: 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: 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: 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: 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: C0036391
Disease: Schwartz-Jampel Syndrome
Schwartz-Jampel Syndrome 		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: C0037769
Disease: West Syndrome
West Syndrome 		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: C0037952
Disease: Spinocerebellar Degeneration
Spinocerebellar Degeneration 		group 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: 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: 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: 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: 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: C0234132
Disease: Pyramidal sign
Pyramidal sign 		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: 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: C0014518
Disease: Toxic Epidermal Necrolysis
Toxic Epidermal Necrolysis 		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: 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: 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: 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: 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: 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: 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: 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: 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: C1843885
Disease: Progressive gait ataxia
Progressive gait ataxia 		phenotype 0.100 None 0 0