Gene: POLG ×
Source: CLINVAR ×
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5428
Gene Symbol: POLG
POLG 		1.000 CausalMutation disease CLINVAR Fatal congenital myopathy and gastrointestinal pseudo-obstruction due to POLG1 mutations. 19307547 2009
Entrez Id: 5428
Gene Symbol: POLG
POLG 		1.000 CausalMutation disease CLINVAR MELAS associated with mutations in the POLG1 gene. 17502560 2007
Entrez Id: 5428
Gene Symbol: POLG
POLG 		1.000 CausalMutation disease CLINVAR Sequence analysis of familial PEO shows additional mutations associated with the 752C-->T and 3527C-->T changes in the POLG1 gene. 15349879 2004
Entrez Id: 5428
Gene Symbol: POLG
POLG 		1.000 CausalMutation disease CLINVAR Alpers disease mutations in human DNA polymerase gamma cause catalytic defects in mitochondrial DNA replication by distinct mechanisms. 25914719 2015
Entrez Id: 5428
Gene Symbol: POLG
POLG 		1.000 CausalMutation disease CLINVAR Molecular and clinical genetics of mitochondrial diseases due to POLG mutations. 18546365 2008
Entrez Id: 5428
Gene Symbol: POLG
POLG 		1.000 CausalMutation disease CLINVAR The unfolding clinical spectrum of POLG mutations. 19578034 2009
Entrez Id: 5428
Gene Symbol: POLG
POLG 		1.000 GeneticVariation disease CLINVAR Functional analysis of H. sapiens DNA polymerase gamma spacer mutation W748S with and without common variant E1143G. 20153822 2010
Entrez Id: 5428
Gene Symbol: POLG
POLG 		1.000 CausalMutation disease CLINVAR A case of myelopathy, myopathy, peripheral neuropathy and subcortical grey matter degeneration associated with recessive compound heterozygous POLG1 mutations. 22357363 2012
Entrez Id: 5428
Gene Symbol: POLG
POLG 		1.000 CausalMutation disease CLINVAR Mitochondrial DNA depletion in progressive external ophthalmoplegia caused by POLG1 mutations. 19566497 2009
Entrez Id: 5428
Gene Symbol: POLG
POLG 		1.000 CausalMutation disease CLINVAR Juvenile Alpers disease. 18195149 2008
Entrez Id: 5428
Gene Symbol: POLG
POLG 		1.000 CausalMutation disease CLINVAR A Clinical, Neuropathological and Genetic Study of Homozygous A467T POLG-Related Mitochondrial Disease. 26735972 2016
Entrez Id: 5428
Gene Symbol: POLG
POLG 		1.000 CausalMutation disease CLINVAR Sensory ataxic neuropathy with dysarthria and ophthalmoparesis (SANDO) in late life due to compound heterozygous POLG mutations. 20513108 2010
Entrez Id: 5428
Gene Symbol: POLG
POLG 		1.000 CausalMutation disease CLINVAR Isolated distal myopathy of the upper limbs associated with mitochondrial DNA depletion and polymerase gamma mutations. 20837862 2010
Entrez Id: 5428
Gene Symbol: POLG
POLG 		1.000 CausalMutation disease CLINVAR Alpers syndrome with mutations in POLG: clinical and investigative features. 22000311 2011
Entrez Id: 5428
Gene Symbol: POLG
POLG 		1.000 GeneticVariation disease CLINVAR Juvenile Alpers disease. 18195149 2008
Entrez Id: 5428
Gene Symbol: POLG
POLG 		1.000 CausalMutation disease CLINVAR Early-onset familial parkinsonism due to POLG mutations. 16634032 2006
Entrez Id: 5428
Gene Symbol: POLG
POLG 		1.000 CausalMutation disease CLINVAR High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency. 20818383 2010
Entrez Id: 5428
Gene Symbol: POLG
POLG 		1.000 CausalMutation disease CLINVAR Next-generation sequencing for mitochondrial diseases: a wide diagnostic spectrum. 22494076 2012
Entrez Id: 5428
Gene Symbol: POLG
POLG 		1.000 CausalMutation disease CLINVAR POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion. 15122711 2004
Entrez Id: 5428
Gene Symbol: POLG
POLG 		1.000 CausalMutation disease CLINVAR Abundance of the POLG disease mutations in Europe, Australia, New Zealand, and the United States explained by single ancient European founders. 17426723 2007
Entrez Id: 5428
Gene Symbol: POLG
POLG 		1.000 GeneticVariation disease CLINVAR Purification and functional characterization of human mitochondrial DNA polymerase gamma harboring disease mutations. 20176107 2010
Entrez Id: 5428
Gene Symbol: POLG
POLG 		1.000 GeneticVariation disease CLINVAR Relative frequency of known causes of multiple mtDNA deletions: two novel POLG mutations. 21550804 2011
Entrez Id: 5428
Gene Symbol: POLG
POLG 		1.000 CausalMutation disease CLINVAR Depletion of mitochondrial DNA in fibroblast cultures from patients with POLG1 mutations is a consequence of catalytic mutations. 18487244 2008
Entrez Id: 5428
Gene Symbol: POLG
POLG 		1.000 CausalMutation disease CLINVAR De novo mtDNA point mutations are common and have a low recurrence risk. 27450679 2017
Entrez Id: 5428
Gene Symbol: POLG
POLG 		1.000 CausalMutation disease CLINVAR The development of next-generation sequencing assays for the mitochondrial genome and 108 nuclear genes associated with mitochondrial disorders. 23665194 2013