Source: CURATED

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs113994095
rs113994095
POLG ; MIR6766
CUI: C0162557
Disease: Liver Failure, Acute
Liver Failure, Acute 		T 0.710 CausalMutation 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
dbSNP: rs113994095
rs113994095
POLG ; MIR6766
CUI: C0152025
Disease: Polyneuropathy
Polyneuropathy 		T 0.700 CausalMutation 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
dbSNP: rs113994095
rs113994095
POLG ; MIR6766
CUI: C1854489
Disease: Limb dysmetria
Limb dysmetria 		T 0.700 CausalMutation 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
dbSNP: rs113994095
rs113994095
POLG ; MIR6766
CUI: C4551521
Disease: Kinetic tremor
Kinetic tremor 		T 0.700 CausalMutation 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
dbSNP: rs113994095
rs113994095
POLG ; MIR6766
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		T 0.700 CausalMutation 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
dbSNP: rs113994095
rs113994095
POLG ; MIR6766
CUI: C1856691
Disease: Impaired proprioception
Impaired proprioception 		T 0.700 CausalMutation 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
dbSNP: rs113994095
rs113994095
POLG ; MIR6766
CUI: C0240991
Disease: Ataxia, Sensory
Ataxia, Sensory 		T 0.700 CausalMutation 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
dbSNP: rs113994095
rs113994095
POLG ; MIR6766
CUI: C0234378
Disease: Static Tremor
Static Tremor 		T 0.700 CausalMutation 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
dbSNP: rs113994095
rs113994095
POLG ; MIR6766
CUI: C0700078
Disease: Decreased tendon reflex
Decreased tendon reflex 		T 0.700 CausalMutation 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
dbSNP: rs113994095
rs113994095
POLG ; MIR6766
CUI: C0151611
Disease: Electroencephalogram abnormal
Electroencephalogram abnormal 		T 0.700 CausalMutation 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
dbSNP: rs113994095
rs113994095
POLG ; MIR6766
CUI: C0036572
Disease: Seizures
Seizures 		T 0.700 CausalMutation 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
dbSNP: rs113994095
rs113994095
POLG ; MIR6766
CUI: C0027066
Disease: Myoclonus
Myoclonus 		T 0.700 CausalMutation 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
dbSNP: rs113994095
rs113994095
POLG ; MIR6766
CUI: C1295585
Disease: Decreased vibratory sense
Decreased vibratory sense 		T 0.700 CausalMutation 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
dbSNP: rs113994097
rs113994097
POLG
CUI: C0036572
Disease: Seizures
Seizures 		G 0.700 CausalMutation CLINVAR Quantitative neuroimaging biomarkers in a series of 20 adult patients with POLG mutations. 29474836

2019
dbSNP: rs796052887
rs796052887
POLG
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		T 0.700 CausalMutation CLINVAR Alpers-Huttenlocher Syndrome First Presented with Hepatic Failure: Can Liver Transplantation Be Considered as Treatment Option? 29302508

2017
dbSNP: rs1555453538
rs1555453538
POLG ; MIR6766
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism 		C 0.700 GeneticVariation CLINVAR Understanding the Epilepsy in POLG Related Disease. 28837072

2017
dbSNP: rs1555453538
rs1555453538
POLG ; MIR6766
CUI: C1834846
Disease: Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1 		C 0.700 GeneticVariation CLINVAR Understanding the Epilepsy in POLG Related Disease. 28837072

2017
dbSNP: rs1555453538
rs1555453538
POLG ; MIR6766
CUI: C3714796
Disease: Isolated somatotropin deficiency
Isolated somatotropin deficiency 		C 0.700 GeneticVariation CLINVAR Understanding the Epilepsy in POLG Related Disease. 28837072

2017
dbSNP: rs1555453538
rs1555453538
POLG ; MIR6766
CUI: C0009806
Disease: Constipation
Constipation 		C 0.700 GeneticVariation CLINVAR Understanding the Epilepsy in POLG Related Disease. 28837072

2017
dbSNP: rs1555453538
rs1555453538
POLG ; MIR6766
CUI: C0013595
Disease: Eczema
Eczema 		C 0.700 GeneticVariation CLINVAR Understanding the Epilepsy in POLG Related Disease. 28837072

2017
dbSNP: rs1555453538
rs1555453538
POLG ; MIR6766
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		C 0.700 GeneticVariation CLINVAR Understanding the Epilepsy in POLG Related Disease. 28837072

2017
dbSNP: rs1555453538
rs1555453538
POLG ; MIR6766
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		C 0.700 GeneticVariation CLINVAR Understanding the Epilepsy in POLG Related Disease. 28837072

2017
dbSNP: rs113994097
rs113994097
POLG
CUI: C0036572
Disease: Seizures
Seizures 		G 0.700 CausalMutation CLINVAR Understanding the Epilepsy in POLG Related Disease. 28837072

2017
dbSNP: rs113994097
rs113994097
POLG
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		G 0.720 CausalMutation CLINVAR Decreased male reproductive success in association with mitochondrial dysfunction. 28812649

2017
dbSNP: rs113994099
rs113994099
POLG
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		C 0.710 CausalMutation CLINVAR Decreased male reproductive success in association with mitochondrial dysfunction. 28812649

2017