Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.100 GeneticVariation CLINVAR Understanding the Epilepsy in POLG Related Disease. 28837072

2017
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.100 GeneticVariation CLINVAR Clinical and molecular features of POLG-related mitochondrial disease. 23545419

2013
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.100 CausalMutation CLINVAR Mitochondrial DNA polymerase gamma mutations: an ever expanding molecular and clinical spectrum. 21880868

2011
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.100 GeneticVariation CLINVAR Polymerase gamma 1 mutations: clinical correlations. 20220442

2010
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.100 CausalMutation CLINVAR Disease mutations in the human mitochondrial DNA polymerase thumb subdomain impart severe defects in mitochondrial DNA replication. 19478085

2009
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.100 CausalMutation CLINVAR Mutations of mitochondrial DNA polymerase gammaA are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegia. 12210792

2002