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 Our study expands the clinical and mutational spectrum of KCNJ10-related disorders and suggests that screening of this gene should be implemented in patients with early-onset ataxia, with or without syndromic features. 29476442 2018
CUI: C0004134
Disease: Ataxia
Ataxia 		0.120 Biomarker phenotype BEFREE We next injected splice- and translation-blocking kcnj10 antisense morpholino oligonucleotides and reproduced the cardinal symptoms of EAST syndrome - ataxia, epilepsy and renal tubular defects. 23471908 2013
CUI: C0004134
Disease: Ataxia
Ataxia 		0.120 Biomarker phenotype HPO