Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5428
Gene Symbol: POLG
POLG 		0.100 CausalMutation phenotype CLINVAR The adjunctive application of transcranial direct current stimulation in the management of de novo refractory epilepsia partialis continua in adolescent-onset POLG-related mitochondrial disease. 29588995 2018
Entrez Id: 5428
Gene Symbol: POLG
POLG 		0.100 CausalMutation phenotype CLINVAR Mitochondrial DNA depletion and fatal infantile hepatic failure due to mutations in the mitochondrial polymerase γ (POLG) gene: a combined morphological/enzyme histochemical and immunocytochemical/biochemical and molecular genetic study. 19538466 2011
Entrez Id: 5428
Gene Symbol: POLG
POLG 		0.100 CausalMutation phenotype CLINVAR Enrichment of deleterious variants of mitochondrial DNA polymerase gene (POLG1) in bipolar disorder. 27987238 2017
Entrez Id: 7337
Gene Symbol: UBE3A
UBE3A 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 10716
Gene Symbol: TBR1
TBR1 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 5428
Gene Symbol: POLG
POLG 		0.100 CausalMutation phenotype CLINVAR The spectrum of epilepsy caused by POLG mutations. 26104464 2016
Entrez Id: 5428
Gene Symbol: POLG
POLG 		0.100 CausalMutation phenotype CLINVAR Sensory neuronopathy in patients harbouring recessive polymerase γ mutations. 22189570 2012
Entrez Id: 3073
Gene Symbol: HEXA
HEXA 		0.100 CausalMutation phenotype CLINVAR Expanding the spectrum of HEXA mutations in Indian patients with Tay-Sachs disease. 27896118 2014
Entrez Id: 5428
Gene Symbol: POLG
POLG 		0.100 CausalMutation phenotype CLINVAR Reversible valproate hepatotoxicity due to mutations in mitochondrial DNA polymerase γ (POLG1). 21686371 2009
Entrez Id: 5428
Gene Symbol: POLG
POLG 		0.100 CausalMutation phenotype CLINVAR Cerebral folate deficiency and CNS inflammatory markers in Alpers disease. 19766516 2010
Entrez Id: 5428
Gene Symbol: POLG
POLG 		0.100 CausalMutation phenotype CLINVAR An informatics approach to analyzing the incidentalome. 22995991 2013
Entrez Id: 79876
Gene Symbol: UBA5
UBA5 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 5428
Gene Symbol: POLG
POLG 		0.100 CausalMutation phenotype CLINVAR Early-onset ataxia with progressive external ophthalmoplegia associated with POLG mutation: autosomal recessive mitochondrial ataxic syndrome or SANDO? 22931735 2012
Entrez Id: 5428
Gene Symbol: POLG
POLG 		0.100 CausalMutation phenotype CLINVAR Sensory ataxic neuropathy with dysarthria/dysphagia and ophthalmoplegia (SANDO). Two case reports. 22616202 2011
Entrez Id: 5428
Gene Symbol: POLG
POLG 		0.100 CausalMutation phenotype CLINVAR POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion. 15122711 2004
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 2581
Gene Symbol: GALC
GALC 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 1161
Gene Symbol: ERCC8
ERCC8 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 3073
Gene Symbol: HEXA
HEXA 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 64207
Gene Symbol: IRF2BPL
IRF2BPL 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 3746
Gene Symbol: KCNC1
KCNC1 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 5428
Gene Symbol: POLG
POLG 		0.100 CausalMutation phenotype CLINVAR De novo mutation in POLG leads to haplotype insufficiency and Alpers syndrome. 19501198 2009
Entrez Id: 5428
Gene Symbol: POLG
POLG 		0.100 CausalMutation phenotype CLINVAR POLG1 variations presenting as multiple sclerosis. 20837861 2010
Entrez Id: 5428
Gene Symbol: POLG
POLG 		0.100 CausalMutation phenotype CLINVAR Polymerase gamma deficiency (POLG): clinical course in a child with a two stage evolution from infantile myocerebrohepatopathy spectrum to an Alpers syndrome and neuropathological findings of Leigh's encephalopathy. 22342071 2012