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
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.130 GeneticVariation disease 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
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.130 GeneticVariation disease BEFREE While the full genotype-phenotype spectrum remains to be explored, pathogenic variants in MSTO1 have recently been reported in a small number of patients presenting with a phenotype of cerebellar ataxia, congenital muscle involvement with histologic findings ranging from myopathic to dystrophic and pigmentary retinopathy. 31463572 2019
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.130 GeneticVariation disease BEFREE Novel recessive mutations in MSTO1 cause cerebellar atrophy with pigmentary retinopathy. 29339779 2018
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.130 Biomarker disease HPO
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		0.120 GeneticVariation disease BEFREE Bi-allelic loss-of-function variants in MSTO1 manifest clinically with a remarkably consistent phenotype of childhood-onset muscular dystrophy, corticospinal tract dysfunction and early-onset non-progressive cerebellar atrophy. 31463572 2019
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		0.120 GeneticVariation disease BEFREE Recently, MSTO1 mutations have been shown to cause clinical manifestations suggestive of mitochondrial dysfunction, such as muscle weakness, short stature, motor developmental delay, and cerebellar atrophy. 29339779 2018
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		0.120 GeneticVariation disease CLINVAR
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness 		0.110 GeneticVariation phenotype BEFREE Recently, MSTO1 mutations have been shown to cause clinical manifestations suggestive of mitochondrial dysfunction, such as muscle weakness, short stature, motor developmental delay, and cerebellar atrophy. 29339779 2018
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness 		0.110 Biomarker phenotype HPO
CUI: C0003467
Disease: Anxiety
Anxiety 		0.100 Biomarker disease HPO
CUI: C0011581
Disease: Depressive disorder
Depressive disorder 		0.100 Biomarker disease HPO
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.100 Biomarker disease HPO
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum 		0.100 Biomarker disease HPO
CUI: C0020550
Disease: Hyperthyroidism
Hyperthyroidism 		0.100 Biomarker disease HPO
CUI: C0020580
Disease: Hypesthesia
Hypesthesia 		0.100 Biomarker phenotype HPO
CUI: C0023015
Disease: Language Disorders
Language Disorders 		0.100 GeneticVariation group CLINVAR
CUI: C0023798
Disease: Lipoma
Lipoma 		0.100 Biomarker disease HPO
CUI: C0025990
Disease: Micrognathism
Micrognathism 		0.100 Biomarker disease HPO
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		0.100 Biomarker disease HPO