POLG, DNA polymerase gamma, catalytic subunit, 5428

N. diseases: 462; N. variants: 173
Source: ALL
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder)
disease Immune System Diseases; Nervous System Diseases Disease or Syndrome 28 128 1.000 None 0.992 124 125 2001 2019
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases Disease or Syndrome 4 15 0.760 strong 1.000 20 14 2003 2016
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1
disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Eye Diseases; Nervous System Diseases Disease or Syndrome 5 13 0.700 None 1.000 15 13 2001 2017
MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE)
disease Disease or Syndrome 2 17 0.700 None 1.000 8 15 2003 2016
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder
disease Mental Disorders Mental or Behavioral Dysfunction 1183 839 0.620 None 1.000 43 1 2001 2018
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1
disease Disease or Syndrome 1 27 0.600 None 1.000 30 27 2001 2016
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE
disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 4 0.520 None 1.000 3 2001 2003
CUI: C0525045
Disease: Mood Disorders
Mood Disorders
group Mental Disorders Mental or Behavioral Dysfunction 580 308 0.520 None 1.000 3 2004 2017
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases
group Nutritional and Metabolic Diseases Disease or Syndrome 284 84 0.500 None 0.957 46 8 2003 2020
Chronic progressive external ophthalmoplegia
disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 50 13 0.500 None 0.976 41 3 2002 2019
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders
group Nervous System Diseases Disease or Syndrome 373 95 0.500 None 0.952 21 3 2004 2019
Chemical and Drug Induced Liver Injury
disease Digestive System Diseases; Chemically-Induced Disorders Disease or Syndrome 461 38 0.500 None 1.000 3 2008 2014
SPINOCEREBELLAR ATAXIA WITH EPILEPSY
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 1 2 0.440 None 1.000 5 2 2005 2019
CUI: C0036572
Disease: Seizures
Seizures
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 2152 553 0.430 None 1.000 79 11 2001 2019
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
group Cardiovascular Diseases Disease or Syndrome 925 294 0.420 None 1.000 2 1 2004 2007
CUI: C0014544
Disease: Epilepsy
Epilepsy
disease Nervous System Diseases Disease or Syndrome 1215 339 0.400 None 1.000 12 4 2008 2018
CUI: C0751495
Disease: Seizures, Focal
Seizures, Focal
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 210 15 0.400 None 1.000 2 2010 2010
CUI: C0494475
Disease: Tonic - clonic seizures
Tonic - clonic seizures
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 300 32 0.400 None 1.000 2 2010 2010
Mitochondrial DNA Depletion Syndrome 1
disease Disease or Syndrome 4 78 0.400 None 0 7
CUI: C0038220
Disease: Status Epilepticus
Status Epilepticus
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 533 12 0.370 None 1.000 10 2 2008 2016
CUI: C0021364
Disease: Male infertility
Male infertility
phenotype Male Urogenital Diseases Disease or Syndrome 516 146 0.370 None 0.625 8 2004 2013
Diffuse Cerebral Sclerosis of Schilder
disease Immune System Diseases; Nervous System Diseases Disease or Syndrome 4 0.340 None 1.000 7 2005 2010
CUI: C0023264
Disease: Leigh Disease
Leigh Disease
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 144 114 0.330 None 1.000 4 2 2009 2017
Oxidative Phosphorylation Deficiencies
disease Nutritional and Metabolic Diseases Disease or Syndrome 18 1 0.310 None 1.000 2 2007 2008
CUI: C0004712
Disease: Balo's Concentric Sclerosis
Balo's Concentric Sclerosis
disease Immune System Diseases; Nervous System Diseases Disease or Syndrome 5 0.300 None 1.000 3 2008 2010