Disease: Ataxia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0004134
Disease: Ataxia
Ataxia 		0.120 GeneticVariation phenotype BEFREE Because Atp2b3 mutation leads to congenital ataxia in humans, the identified Atp2b3 missense change in the shaker rat presents a good candidate for the shaker rat phenotype based on genetic criteria, but cannot yet be considered a definite pathogenic variant owing to lack of functional changes. 27013529 2016
CUI: C0004134
Disease: Ataxia
Ataxia 		0.120 GeneticVariation phenotype BEFREE A cerebellar X-linked human ataxia has recently been found to be caused by a mutation in the calmodulin-binding domain of PMCA3. 23413890 2013
CUI: C0004134
Disease: Ataxia
Ataxia 		0.120 Biomarker phenotype HPO