Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0004134
Disease: Ataxia
Ataxia
0.030 Biomarker phenotype BEFREE Although the deletion of Caytaxin protein causes human Cayman ataxia and ataxia in the mutant mouse, the function of Olfaxin is largely unknown. 29571668 2018
CUI: C0004134
Disease: Ataxia
Ataxia
0.030 AlteredExpression phenotype BEFREE Mutation of the gene encoding Caytaxin causes human Cayman ataxia by interfering with normal splicing and, in mutant rodents, by reducing normal transcription, which leads to ataxia, dystonia, and mental retardation: These observations suggest that Caytaxin may be crucial for higher brain functions such as motor learning. 17157273 2007
CUI: C0004134
Disease: Ataxia
Ataxia
0.030 Biomarker phenotype BEFREE Cayman ataxia is a recessive congenital ataxia restricted to one area of Grand Cayman Island. 14556008 2003