×
Entrez Id:
1725
Gene Symbol:
DHPS
DHPS
0.400
Biomarker
phenotype
GENOMICS_ENGLAND
Essential role of eIF5A-1 and deoxyhypusine synthase in mouse embryonic development.
21850436
2012
×
Entrez Id:
1725
Gene Symbol:
DHPS
DHPS
0.400
Biomarker
phenotype
HPO
×
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
Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test.
28771251
2018
×
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:
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
A Clinical, Neuropathological and Genetic Study of Homozygous A467T POLG-Related Mitochondrial Disease.
26735972
2016
×
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
Cranial nerve and cervical root enhancement in an infant with polymerase gamma mutation mitochondrial disease.
25286830
2014
×
Entrez Id:
5428
Gene Symbol:
POLG
POLG
0.100
CausalMutation
phenotype
CLINVAR
Abnormalities in glycogen metabolism in a patient with alpers' syndrome presenting with hypoglycemia.
24272679
2014
×
Entrez Id:
3073
Gene Symbol:
HEXA
HEXA
0.100
CausalMutation
phenotype
CLINVAR
Burden of lysosomal storage disorders in India: experience of 387 affected children from a single diagnostic facility.
23852624
2014
×
Entrez Id:
5428
Gene Symbol:
POLG
POLG
0.100
CausalMutation
phenotype
CLINVAR
Valproic acid triggers increased mitochondrial biogenesis in POLG-deficient fibroblasts.
24725338
2014
×
Entrez Id:
5428
Gene Symbol:
POLG
POLG
0.100
CausalMutation
phenotype
CLINVAR
An informatics approach to analyzing the incidentalome.
22995991
2013
×
Entrez Id:
5428
Gene Symbol:
POLG
POLG
0.100
CausalMutation
phenotype
CLINVAR
POLG mutation presenting with late-onset jerky torticollis.
23212759
2013
×
Entrez Id:
5428
Gene Symbol:
POLG
POLG
0.100
CausalMutation
phenotype
CLINVAR
Reduced mitochondrial DNA content and heterozygous nuclear gene mutations in patients with acute liver failure.
23783014
2013
×
Entrez Id:
5428
Gene Symbol:
POLG
POLG
0.100
CausalMutation
phenotype
CLINVAR
Prospective study of POLG mutations presenting in children with intractable epilepsy: prevalence and clinical features.
23448099
2013
×
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:
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
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
×
Entrez Id:
5428
Gene Symbol:
POLG
POLG
0.100
CausalMutation
phenotype
CLINVAR
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)-like phenotype: an expanded clinical spectrum of POLG1 mutations.
21993618
2012
×
Entrez Id:
3073
Gene Symbol:
HEXA
HEXA
0.100
CausalMutation
phenotype
CLINVAR
Identification of novel mutations in HEXA gene in children affected with Tay Sachs disease from India.
22723944
2012
×
Entrez Id:
5428
Gene Symbol:
POLG
POLG
0.100
CausalMutation
phenotype
CLINVAR
MELAS/SANDO overlap syndrome associated with POLG1 mutations.
21647632
2012
×
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
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 exon 22 skipping induced by different mechanisms in two unrelated cases of Alpers syndrome.
20691285
2011