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: C0018790
Disease: Cardiac Arrest
Cardiac Arrest 		0.060 GeneticVariation BEFREE Genetically, SCAs are grouped as repeat expansion SCAs, such as SCA3/Machado-Joseph disease (MJD), and rare SCAs that are caused by non-repeat mutations, such as SCA5. 30975995

2019
Entrez Id: 6712
Gene Symbol: SPTBN2
SPTBN2
CUI: C0018790
Disease: Cardiac Arrest
Cardiac Arrest 		0.060 GeneticVariation BEFREE Heterozygous mutations in the gene encoding β-III spectrin (SPTBN2) underlie SCA type-5 whereas homozygous mutations cause spectrin associated autosomal recessive ataxia type-1 (SPARCA1), an infantile form of ataxia with cognitive impairment. 26821241

2016
Entrez Id: 6712
Gene Symbol: SPTBN2
SPTBN2
CUI: C0018790
Disease: Cardiac Arrest
Cardiac Arrest 		0.060 GeneticVariation BEFREE However, mutations of the PLEKHG4 gene and the SPTBN2 gene are not the causes of SCAs in this family. 20641168

2010
Entrez Id: 6712
Gene Symbol: SPTBN2
SPTBN2
CUI: C0018790
Disease: Cardiac Arrest
Cardiac Arrest 		0.060 GeneticVariation BEFREE Screening of the SPTBN2 (SCA5) gene in German SCA patients. 17940722

2007
Entrez Id: 6712
Gene Symbol: SPTBN2
SPTBN2
CUI: C0018790
Disease: Cardiac Arrest
Cardiac Arrest 		0.060 Biomarker BEFREE The highest sensitivity to correctly predict the true SCA type was found for SCA5, SCA7, and SCA8. 16037936

2005
Entrez Id: 6712
Gene Symbol: SPTBN2
SPTBN2
CUI: C0018790
Disease: Cardiac Arrest
Cardiac Arrest 		0.060 Biomarker BEFREE While locus homogeneity with SCA5 is not formally excluded, we consider it rather unlikely on phenotypic grounds, and propose that this condition may represent an addition to the group of neurogenetic disorders subsumed under the rubric SCA. 14998916

2004