Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6712
Gene Symbol: SPTBN2
SPTBN2
CUI: C1849096
Disease: Infantile onset spinocerebellar ataxia
Infantile onset spinocerebellar ataxia 		0.020 GeneticVariation BEFREE Infantile-onset spinocerebellar ataxia type 5 associated with a novel SPTBN2 mutation: A case report. 30898343

2019
Entrez Id: 6712
Gene Symbol: SPTBN2
SPTBN2
CUI: C1849096
Disease: Infantile onset spinocerebellar ataxia
Infantile onset spinocerebellar ataxia 		0.020 GeneticVariation BEFREE The authors present the first case of infantile-onset spinocerebellar ataxia associated with a novel SPTBN2 mutation (transition C>T at nucleotide position 1438), the proband having a much more severe phenotype with global developmental delay, hypotonia, tremor, nystagmus, and facial myokymia. 22914369

2013