Disease: Ataxia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0004134
Disease: Ataxia
Ataxia 		0.110 Biomarker phenotype BEFREE We therefore expand for the first time the phenotype related to ATP8A2 mutations to less severe forms characterized by cerebellar ataxia without encephalopathy and suggest that ATP8A2 should be analyzed for all cases of syndromic or non-syndromic recessive or sporadic ataxia. 31612321 2020
CUI: C0004134
Disease: Ataxia
Ataxia 		0.110 Biomarker phenotype HPO