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 		0.110 GeneticVariation phenotype CLINVAR Identification of a novel deletion in SURF1 gene: Heterogeneity in Leigh syndrome with COX deficiency. 27756633 2016
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		0.110 Biomarker phenotype BEFREE SURF1 should be systematically screened in patients with childhood-onset severe demyelinating neuropathy and additional features such as lactic acidosis, brain MRI abnormalities, and cerebellar ataxia developing years after polyneuropathy. 24027061 2013
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		0.110 CausalMutation phenotype CLINVAR