Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5428
Gene Symbol: POLG
POLG 		0.760 GeneticVariation disease CLINVAR
Entrez Id: 5428
Gene Symbol: POLG
POLG 		0.760 CausalMutation disease CLINVAR
Entrez Id: 56652
Gene Symbol: TWNK
TWNK 		0.510 Biomarker disease CTD_human
Entrez Id: 5428
Gene Symbol: POLG
POLG 		0.760 Biomarker disease GENOMICS_ENGLAND A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathies. 25655951 2015
Entrez Id: 5428
Gene Symbol: POLG
POLG 		0.760 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
Entrez Id: 5428
Gene Symbol: POLG
POLG 		0.760 Biomarker disease CTD_human Alpers syndrome with prominent white matter changes. 17923349 2008
Entrez Id: 5428
Gene Symbol: POLG
POLG 		0.760 GeneticVariation disease UNIPROT ANT1, TWINKLE and POLG genes affect mtDNA stability and are involved in autosomal dominant PEO, while mutations in POLG are responsible for numerous clinical presentations, including autosomal recessive PEO, sensory ataxic neuropathy, dysarthria and ophthalmoparesis (SANDO), spino-cerebellar ataxia and epilepsy (SCAE) or Alpers syndrome. 16639411 2006
Entrez Id: 5428
Gene Symbol: POLG
POLG 		0.760 GermlineCausalMutation disease ORPHANET Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase gamma mutations. 15824347 2005
Entrez Id: 5428
Gene Symbol: POLG
POLG 		0.760 GeneticVariation disease UNIPROT Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase gamma mutations. 15824347 2005
Entrez Id: 5428
Gene Symbol: POLG
POLG 		0.760 GeneticVariation disease UNIPROT Functional defects due to spacer-region mutations of human mitochondrial DNA polymerase in a family with an ataxia-myopathy syndrome. 15917273 2005
Entrez Id: 5428
Gene Symbol: POLG
POLG 		0.760 GeneticVariation disease UNIPROT Mitochondrial DNA polymerase W748S mutation: a common cause of autosomal recessive ataxia with ancient European origin. 16080118 2005
Entrez Id: 100652759
Gene Symbol: PRICKLE2-AS1
PRICKLE2-AS1 		0.100 CausalMutation disease CLINVAR Mutations in prickle orthologs cause seizures in flies, mice, and humans. 21276947 2011
Entrez Id: 166336
Gene Symbol: PRICKLE2
PRICKLE2 		0.100 CausalMutation disease CLINVAR Mutations in prickle orthologs cause seizures in flies, mice, and humans. 21276947 2011
Entrez Id: 5428
Gene Symbol: POLG
POLG 		0.760 GeneticVariation disease BEFREE Mutations in the polymerase gamma-1 (POLG1) gene, encoding the catalytic subunit of the mtDNA-specific polymerase-γ, compromise the stability of mitochondrial DNA (mtDNA) and are responsible for numerous clinical presentations as autosomal dominant or recessive progressive external ophthalmoplegia (PEO), sensory ataxia, neuropathy, dysarthria and ophthalmoparesis (SANDO), spinocerebellar ataxia with epilepsy (SCAE) and Alpers syndrome. 25660390 2015
Entrez Id: 5428
Gene Symbol: POLG
POLG 		0.760 GeneticVariation disease BEFREE One sibling presented with sensory ataxic neuropathy, dysarthria, and ophthalmoparesis (SANDO), a phenotype previously associated with the POLG1 gene, highlighting the clinical overlap in autosomal PEO. 15668446 2005
Entrez Id: 5428
Gene Symbol: POLG
POLG 		0.760 GeneticVariation disease UNIPROT Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene. 16621917 2006
Entrez Id: 5428
Gene Symbol: POLG
POLG 		0.760 GeneticVariation disease UNIPROT POLG mutations causing ophthalmoplegia, sensorimotor polyneuropathy, ataxia, and deafness. 14745080 2004
Entrez Id: 5428
Gene Symbol: POLG
POLG 		0.760 GeneticVariation disease UNIPROT POLG mutations in neurodegenerative disorders with ataxia but no muscle involvement. 15477547 2004
Entrez Id: 5428
Gene Symbol: POLG
POLG 		0.760 GeneticVariation disease UNIPROT PRICKLE2 Mutations Might Not Be Involved in Epilepsy. 26942291 2016
Entrez Id: 5428
Gene Symbol: POLG
POLG 		0.760 GermlineCausalMutation disease ORPHANET Recessive POLG mutations presenting with sensory and ataxic neuropathy in compound heterozygote patients with progressive external ophthalmoplegia. 12565911 2003
Entrez Id: 5428
Gene Symbol: POLG
POLG 		0.760 GeneticVariation disease UNIPROT Recessive POLG mutations presenting with sensory and ataxic neuropathy in compound heterozygote patients with progressive external ophthalmoplegia. 12565911 2003
Entrez Id: 5428
Gene Symbol: POLG
POLG 		0.760 Biomarker disease GENOMICS_ENGLAND Rhabdomyolysis: a genetic perspective. 25929793 2015
Entrez Id: 5428
Gene Symbol: POLG
POLG 		0.760 GermlineCausalMutation disease ORPHANET SANDO: two novel mutations in POLG1 gene. 16919951 2006
Entrez Id: 5428
Gene Symbol: POLG
POLG 		0.760 GeneticVariation disease UNIPROT SANDO: two novel mutations in POLG1 gene. 16919951 2006
Entrez Id: 56652
Gene Symbol: TWNK
TWNK 		0.510 GeneticVariation disease ORPHANET Sensory ataxic neuropathy due to a novel C10Orf2 mutation with probable germline mosaicism. 15668446 2005