MICU1, mitochondrial calcium uptake 1, 10367

N. diseases: 76; N. variants: 5
Disease: Extrapyramidal Disorders ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0015371
Disease: Extrapyramidal Disorders
Extrapyramidal Disorders 		0.300 Biomarker group CTD_human Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling. 24336167 2014