Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4721453
Disease: Peripheral Nervous System Diseases
Peripheral Nervous System Diseases
0.040 GeneticVariation group BEFREE In SCA2, earlier onset and more severe ataxia were associated with peripheral neuropathy. 26054379 2016
CUI: C4721453
Disease: Peripheral Nervous System Diseases
Peripheral Nervous System Diseases
0.040 GeneticVariation group BEFREE The following clinical features have some specific values for predicting a gene defect: slowing of saccades in SCA2, ophthalmoplegia in SCA1, SCA2 and SCA3, pigmentary retinopathy in SCA7, spasticity in SCA3, dyskinesias associated with a mutation in the fibroblast growth factor 14 (FGF 14) gene, cognitive impairment/behavioral symptoms in SCA17 and DRPLA, seizures in SCA10, SCA17 and DRPLA, peripheral neuropathy in SCA1, SCA2, SCA3, SCA4, SCA8, SCA18 and SCA25. 15895552 2005
CUI: C4721453
Disease: Peripheral Nervous System Diseases
Peripheral Nervous System Diseases
0.040 GeneticVariation group BEFREE Slow saccades and peripheral neuropathy were not seen consistently in our ethnic Bengalee subjects with SCA2 genotype. 14571010 2003
CUI: C4721453
Disease: Peripheral Nervous System Diseases
Peripheral Nervous System Diseases
0.040 GeneticVariation group BEFREE Slow saccadic eye movements and peripheral neuropathy were not seen consistently in our ethnic Bengalee subjects with SCA2 genotypes. 11886365 2002