Disease: Cerebellar Ataxia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		0.020 Biomarker phenotype BEFREE Expression of the fast calcium extrusion protein, PMCA2, in the cerebellum is amongst the highest found throughout the central nervous system, and unsurprisingly PMCA2 knockout mice exhibit cerebellar ataxia or loss of controlled movement. 29452612 2018
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		0.020 GeneticVariation phenotype BEFREE PMCA 2 mutations are associated with deafness and PMCA 3 mutations are linked to cerebellar ataxias. 29155350 2018