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: C3696376
Disease: 3-Methylglutaconic Aciduria
3-Methylglutaconic Aciduria 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 20 1 0.110 None 1.000 1 2012 2012
CUI: C0000731
Disease: Abdomen distended
Abdomen distended 		phenotype Digestive System Diseases Finding 103 6 0.100 None 0
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 302 18 0.100 None 0
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		phenotype Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 910 121 0.110 None 1.000 3 1 2010 2016
CUI: C4476793
Disease: Abnormal cell morphology
Abnormal cell morphology 		phenotype Anatomical Abnormality 12 1 0.100 None 0
CUI: C4531132
Disease: Abnormal morphology of the cerebellar cortex
Abnormal morphology of the cerebellar cortex 		phenotype Anatomical Abnormality 2 0.100 None 0
CUI: C0035300
Disease: Abnormal retinal morphology
Abnormal retinal morphology 		phenotype Eye Diseases Finding 13 8 0.100 None 0
CUI: C4022770
Disease: Abnormal thalamic MRI signal intensity
Abnormal thalamic MRI signal intensity 		phenotype Finding 4 6 0.100 None 0
CUI: C3665386
Disease: Abnormal vision
Abnormal vision 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Finding 115 6 0.100 None 0
CUI: C0522214
Disease: Abnormal visual evoked potential
Abnormal visual evoked potential 		phenotype Nervous System Diseases Finding 55 5 0.100 None 0
CUI: C4023055
Disease: Abnormality of central motor conduction
Abnormality of central motor conduction 		phenotype Anatomical Abnormality 1 0.100 None 0
CUI: C0151583
Disease: Abnormality of the cerebrospinal fluid
Abnormality of the cerebrospinal fluid 		phenotype Nervous System Diseases Finding 3 0.100 None 0
CUI: C4024751
Disease: Abnormality of the extraocular muscles
Abnormality of the extraocular muscles 		phenotype Anatomical Abnormality 4 0.100 None 0
CUI: C4023042
Disease: Abnormality of the mitochondrion
Abnormality of the mitochondrion 		disease Anatomical Abnormality 10 0.100 None 0
CUI: C4025751
Disease: Abnormality of the pancreas
Abnormality of the pancreas 		disease Anatomical Abnormality 13 1 0.100 None 1.000 2 1 2010 2011
CUI: C4316903
Disease: Absence Seizures
Absence Seizures 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 205 8 0.300 None 1.000 2 2010 2010
CUI: C0234146
Disease: Absent reflex
Absent reflex 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 201 16 0.100 None 0
CUI: C1321756
Disease: Achalasia
Achalasia 		disease Disease or Syndrome 40 5 0.010 None 1.000 1 2017 2017
CUI: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic 		phenotype Nutritional and Metabolic Diseases Disease or Syndrome 209 21 0.130 None 1.000 3 2002 2009
CUI: C0234376
Disease: Action Tremor
Action Tremor 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 95 2 0.100 None 0
CUI: C1629609
Disease: Age at menopause
Age at menopause 		phenotype Finding 129 209 0.100 None 1.000 1 2 2012 2012
CUI: C0085623
Disease: Akinesia
Akinesia 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 43 3 0.010 None 1.000 1 2017 2017
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: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		disease Nervous System Diseases; Mental Disorders Disease or Syndrome 3397 1843 0.010 None 1.000 1 2015 2015
CUI: C0002871
Disease: Anemia
Anemia 		disease Hemic and Lymphatic Diseases Disease or Syndrome 847 94 0.100 None 0