MICU1, mitochondrial calcium uptake 1, 10367

N. diseases: 76; N. variants: 5
Disease: Movement Disorders ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.310 Biomarker group CTD_human Here we report mutations of MICU1 in individuals with a disease phenotype characterized by proximal myopathy, learning difficulties and a progressive extrapyramidal movement disorder. 24336167 2014
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.310 GeneticVariation group BEFREE Here we report mutations of MICU1 in individuals with a disease phenotype characterized by proximal myopathy, learning difficulties and a progressive extrapyramidal movement disorder. 24336167 2014