Source: GENOMICS_ENGLAND

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 0 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 1 0 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 1 0 2013 2019
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