Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 55154
Gene Symbol: MSTO1
MSTO1
0.030 GeneticVariation phenotype BEFREE As of late, MSTO1 mutations have been reported to cause clinical manifestations such as myopathy, cerebellar atrophy and ataxia, motor developmental delay, and pigmentary retinopathy. 30684668 2020
Entrez Id: 55154
Gene Symbol: MSTO1
MSTO1
0.030 Biomarker phenotype BEFREE MSTO1 is a cytoplasmic pro-mitochondrial fusion protein, whose mutation induces myopathy and ataxia in humans. 28554942 2017
Entrez Id: 55154
Gene Symbol: MSTO1
MSTO1
0.030 GeneticVariation phenotype BEFREE Recessive mutations in MSTO1 cause mitochondrial dynamics impairment, leading to myopathy and ataxia. 28544275 2017