SETX, senataxin, 23064

N. diseases: 133; N. variants: 39
Disease: Cerebellar Ataxia ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs267607044
rs267607044
Entrez Id: 23064
Gene Symbol: SETX
SETX
CUI: C0007758
Disease:
Cerebellar Ataxia 		0.010 GeneticVariation BEFREE Here, the authors describe novel homozygous missense mutations in SETX, M274I, and R1294C, found in two siblings with ataxia, peripheral neuropathy, and increased serum alpha-fetoprotein level and three other siblings with heterozygous missense mutations who were neurologically asymptomatic. 16717225 2006