Disease: MYOPATHY, MITOCHONDRIAL, AND ATAXIA ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4540096
Disease: MYOPATHY, MITOCHONDRIAL, AND ATAXIA
MYOPATHY, MITOCHONDRIAL, AND ATAXIA 		0.700 Biomarker disease GENOMICS_ENGLAND Novel recessive mutations in MSTO1 cause cerebellar atrophy with pigmentary retinopathy. 29339779 2018
CUI: C4540096
Disease: MYOPATHY, MITOCHONDRIAL, AND ATAXIA
MYOPATHY, MITOCHONDRIAL, AND ATAXIA 		0.700 Biomarker disease GENOMICS_ENGLAND Recessive mutations in MSTO1 cause mitochondrial dynamics impairment, leading to myopathy and ataxia. 28544275 2017
CUI: C4540096
Disease: MYOPATHY, MITOCHONDRIAL, AND ATAXIA
MYOPATHY, MITOCHONDRIAL, AND ATAXIA 		0.700 GermlineCausalMutation disease ORPHANET Recessive mutations in MSTO1 cause mitochondrial dynamics impairment, leading to myopathy and ataxia. 28544275 2017
CUI: C4540096
Disease: MYOPATHY, MITOCHONDRIAL, AND ATAXIA
MYOPATHY, MITOCHONDRIAL, AND ATAXIA 		0.700 GeneticVariation disease UNIPROT MSTO1 is a cytoplasmic pro-mitochondrial fusion protein, whose mutation induces myopathy and ataxia in humans. 28554942 2017
CUI: C4540096
Disease: MYOPATHY, MITOCHONDRIAL, AND ATAXIA
MYOPATHY, MITOCHONDRIAL, AND ATAXIA 		0.700 GeneticVariation disease UNIPROT Recessive mutations in MSTO1 cause mitochondrial dynamics impairment, leading to myopathy and ataxia. 28544275 2017
CUI: C4540096
Disease: MYOPATHY, MITOCHONDRIAL, AND ATAXIA
MYOPATHY, MITOCHONDRIAL, AND ATAXIA 		0.700 GeneticVariation disease CLINVAR