Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
CUI: C1843851
Disease: Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
0.700 GeneticVariation UNIPROT SANDO: two novel mutations in POLG1 gene. 16919951 2006
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
CUI: C1843851
Disease: Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
0.700 GeneticVariation UNIPROT Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene. 16621917 2006
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
CUI: C1843851
Disease: Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
0.700 GeneticVariation UNIPROT Molecular analysis of ANT1, TWINKLE and POLG in patients with multiple deletions or depletion of mitochondrial DNA by a dHPLC-based assay. 16639411 2006
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
CUI: C1843851
Disease: Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
0.700 GeneticVariation UNIPROT Functional defects due to spacer-region mutations of human mitochondrial DNA polymerase in a family with an ataxia-myopathy syndrome. 15917273 2005
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
CUI: C1843851
Disease: Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
0.700 GeneticVariation UNIPROT Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase gamma mutations. 15824347 2005
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
CUI: C1843851
Disease: Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
0.700 GeneticVariation UNIPROT Mitochondrial DNA polymerase W748S mutation: a common cause of autosomal recessive ataxia with ancient European origin. 16080118 2005
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
CUI: C1843851
Disease: Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
0.700 GeneticVariation UNIPROT POLG mutations causing ophthalmoplegia, sensorimotor polyneuropathy, ataxia, and deafness. 14745080 2004
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
CUI: C1843851
Disease: Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
0.700 GeneticVariation UNIPROT POLG mutations in neurodegenerative disorders with ataxia but no muscle involvement. 15477547 2004
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
CUI: C1843851
Disease: Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
0.700 GeneticVariation UNIPROT Recessive POLG mutations presenting with sensory and ataxic neuropathy in compound heterozygote patients with progressive external ophthalmoplegia. 12565911 2003
Limb-girdle muscle atrophy
CUI: C1842552
Disease: Limb-girdle muscle atrophy
0.700 CausalMutation CLINVAR
Camptocormia
CUI: C0264162
Disease: Camptocormia
0.700 CausalMutation CLINVAR