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
CUI: C0162557
Disease: Liver Failure, Acute
Liver Failure, Acute 		disease Digestive System Diseases Disease or Syndrome 282 21 0.130 None 1.000 44 1 2001 2018
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
CUI: C0152025
Disease: Polyneuropathy
Polyneuropathy 		disease Nervous System Diseases Disease or Syndrome 156 32 0.110 None 1.000 42 1 2001 2018
CUI: C0162674
Disease: Chronic progressive external ophthalmoplegia
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: C4225153
Disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1
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
CUI: C1843851
Disease: Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
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
CUI: C1834846
Disease: Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1
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
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		disease Nervous System Diseases Disease or Syndrome 2078 990 0.100 None 0.692 13 3 2006 2019
CUI: C0342782
Disease: Depletion of mitochondrial DNA
Depletion of mitochondrial DNA 		disease Disease or Syndrome 36 7 0.140 None 1.000 13 2 2008 2017
CUI: C0014544
Disease: Epilepsy
Epilepsy 		disease Nervous System Diseases Disease or Syndrome 1215 339 0.400 None 1.000 12 4 2008 2018
CUI: C3683791
Disease: Ataxia Neuropathy Spectrum
Ataxia Neuropathy Spectrum 		disease Nutritional and Metabolic Diseases Disease or Syndrome 2 2 0.100 None 1.000 12 2 2006 2019
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: C0087012
Disease: Ataxia, Spinocerebellar
Ataxia, Spinocerebellar 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 156 4 0.110 None 1.000 8 1 2008 2019
CUI: C3150914
Disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE)
MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE) 		disease Disease or Syndrome 2 17 0.700 None 1.000 8 15 2003 2016
CUI: C0007795
Disease: Diffuse Cerebral Sclerosis of Schilder
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: C0162671
Disease: MELAS Syndrome
MELAS Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 80 53 0.070 None 0.857 7 1994 2018
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 1112 395 0.100 None 1.000 6 2 2002 2017
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6941 3417 0.060 None 1.000 6 2 2012 2018
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6776 2793 0.060 None 1.000 6 2 2012 2018
CUI: C0085605
Disease: Liver Failure
Liver Failure 		disease Digestive System Diseases Disease or Syndrome 293 20 0.150 None 1.000 5 4 2009 2017
CUI: C1843852
Disease: SPINOCEREBELLAR ATAXIA WITH EPILEPSY
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: C0022541
Disease: Kearns-Sayre syndrome
Kearns-Sayre syndrome 		disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 29 5 0.040 None 1.000 4 1 1997 2018
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
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