SETX, senataxin, 23064

N. diseases: 133; N. variants: 39
Disease: Gait Ataxia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0751837
Disease: Gait Ataxia
Gait Ataxia 		0.110 GeneticVariation phenotype BEFREE Ataxia with oculomotor apraxia type 2 (AOA2) is a newly described autosomal recessive cerebellar ataxia (ARCA) defined by genetic location to 9q34 of three families sharing gait ataxia, oculomotor apraxia and/or elevated alpha-foetoprotein (AFP) levels. 14736755 2004
CUI: C0751837
Disease: Gait Ataxia
Gait Ataxia 		0.110 Biomarker phenotype HPO