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: C0017601
Disease: Glaucoma
Glaucoma 		disease Eye Diseases Disease or Syndrome 770 198 0.010 None 1.000 1 2018 2018
CUI: C3887524
Disease: Skin Erosion
Skin Erosion 		disease Skin and Connective Tissue Diseases Disease or Syndrome 225 2 0.010 None 1.000 1 2018 2018
CUI: C0023895
Disease: Liver diseases
Liver diseases 		group Digestive System Diseases Disease or Syndrome 1019 100 0.010 None 1.000 1 2009 2009
CUI: C1562585
Disease: Leprosy, Multibacillary
Leprosy, Multibacillary 		disease Infections Disease or Syndrome 34 16 0.010 None 1.000 1 1 2017 2017
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		disease Disease or Syndrome 1075 276 0.010 None 1.000 1 2010 2010
CUI: C0238190
Disease: Inclusion Body Myositis (disorder)
Inclusion Body Myositis (disorder) 		disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 87 1 0.010 None 1.000 1 2015 2015
CUI: C1827284
Disease: Refractory occipital lobe epilepsy
Refractory occipital lobe epilepsy 		disease Nervous System Diseases Disease or Syndrome 1 0.010 None 1.000 1 2016 2016
CUI: C0235782
Disease: Gallbladder Carcinoma
Gallbladder Carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 498 75 0.010 None 1.000 1 2018 2018
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		disease Immune System Diseases; Nervous System Diseases Disease or Syndrome 1800 1022 0.010 None 1.000 1 1 2010 2010
CUI: C0235031
Disease: Neurologic Symptoms
Neurologic Symptoms 		group Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 233 30 0.010 None 1.000 1 2017 2017
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Sign or Symptom 580 48 0.010 None 1.000 1 2012 2012
CUI: C0023343
Disease: Leprosy
Leprosy 		disease Infections Disease or Syndrome 190 120 0.010 None 1.000 1 1 2017 2017
CUI: C3888789
Disease: Pancreatic toxicity
Pancreatic toxicity 		disease Disease or Syndrome 8 2 0.010 None 1.000 1 2 2018 2018
CUI: C0022578
Disease: Keratoconus
Keratoconus 		disease Eye Diseases Disease or Syndrome 269 83 0.010 None 1.000 1 2014 2014
CUI: C0270951
Disease: Ocular muscular dystrophy
Ocular muscular dystrophy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 3 1 0.010 None 1.000 1 2017 2017
CUI: C0917796
Disease: Optic Atrophy, Hereditary, Leber
Optic Atrophy, Hereditary, Leber 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Nervous System Diseases Disease or Syndrome 100 46 0.010 None 1.000 1 2009 2009
CUI: C0018523
Disease: Hallervorden-Spatz Syndrome
Hallervorden-Spatz Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 22 42 0.010 None 1.000 1 2017 2017
CUI: C0948216
Disease: Ovarian adenocarcinoma
Ovarian adenocarcinoma 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process 43 1 0.010 None 1.000 1 2005 2005
CUI: C0270816
Disease: epilepsy and migraine
epilepsy and migraine 		disease Disease or Syndrome 7 1 0.010 None 1.000 1 2006 2006
CUI: C1096063
Disease: Drug Resistant Epilepsy
Drug Resistant Epilepsy 		disease Nervous System Diseases Disease or Syndrome 184 35 0.010 None 1.000 1 2013 2013
CUI: C0019151
Disease: Hepatic Encephalopathy
Hepatic Encephalopathy 		disease Digestive System Diseases; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 100 3 0.010 None 1.000 1 1 2010 2010
CUI: C1303073
Disease: Nicolaides Baraitser syndrome
Nicolaides Baraitser syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 18 38 0.010 None 1.000 1 2020 2020
CUI: C1318485
Disease: Liver regeneration disorder
Liver regeneration disorder 		phenotype Digestive System Diseases Disease or Syndrome 346 0.010 None 1.000 1 2010 2010
CUI: C1321756
Disease: Achalasia
Achalasia 		disease Disease or Syndrome 40 5 0.010 None 1.000 1 2017 2017
CUI: C1839333
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2 		disease Nervous System Diseases Disease or Syndrome 57 43 0.010 None 1.000 1 2013 2013