CASP3, caspase 3, 836

N. diseases: 819; N. variants: 26
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0004134
Disease: Ataxia
Ataxia
0.040 Biomarker phenotype BEFREE Results obtained suggest that maternal caffeine consumption during gestation and lactation exerts two kinds of beneficial effects on cerebellum from rats submitted to HIS: a) at short term, maternal caffeine abolishes hyperthermic seizures induced-oxidative stress and caspase-3 activation and b) in adolescent rats (PD33), maternal caffeine prevents fine motor coordination impairment and gait disturbances. 29360435 2018
CUI: C0004134
Disease: Ataxia
Ataxia
0.040 GeneticVariation phenotype BEFREE The aim of this article is to review, from an historical point of view, the first CAG-related ataxia to be genetically described: SCA 1. 30231129 2018
CUI: C0004134
Disease: Ataxia
Ataxia
0.040 GeneticVariation phenotype BEFREE The Ataxia Molecular Diagnostics Testing Group was established to generate quantitative proficiency and outcomes data regarding molecular testing for the autosomal dominant cerebellar ataxias (spinocerebellar ataxia types 1 [SCA-1] through -3, -6, and -7, and dentatorubral-pallidoluysian atrophy) in North America. 11066010 2000
CUI: C0004134
Disease: Ataxia
Ataxia
0.040 GeneticVariation phenotype BEFREE Molecular genetic predictive or prenatal genetic testing is now possible in families with one form of adult-onset, autosomal dominant ataxia (SCA 1). 7810581 1994