ANO10, anoctamin 10, 55129

N. diseases: 62; N. variants: 17
Disease: Ataxia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0004134
Disease: Ataxia
Ataxia 		0.020 GeneticVariation phenotype BEFREE ANO10 mutations cause ataxia and coenzyme Q₁₀ deficiency. 25182700 2014
CUI: C0004134
Disease: Ataxia
Ataxia 		0.020 Biomarker phenotype BEFREE Here, we describe additional patients from neighbouring Bulgaria, outlining invariable ANO10-ataxia features and confirming global intellectual decline as part of the phenotype resulting from complete Anactomin 10 deficit. 22008874 2012