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: C1850573
Disease: Slender build
Slender build
phenotype Pathological Conditions, Signs and Symptoms Finding 31 2 0.100 None 0
CUI: C0239067
Disease: Difficulty walking up stairs
Difficulty walking up stairs
phenotype Pathological Conditions, Signs and Symptoms Finding 51 7 0.100 None 0
CUI: C1859520
Disease: Progressive spasticity
Progressive spasticity
phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Finding 19 5 0.100 None 0
CUI: C0236780
Disease: Mixed bipolar I disorder
Mixed bipolar I disorder
disease Mental Disorders Mental or Behavioral Dysfunction 7 0.200 None 0
Decreased number of large peripheral myelinated nerve fibers
phenotype Finding 14 0.100 None 0
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 454 44 0.100 None 0
CUI: C1861403
Disease: Variable expressivity
Variable expressivity
phenotype Finding 319 0.100 None 0
CUI: C1865353
Disease: Ethylmalonic aciduria
Ethylmalonic aciduria
phenotype Finding 6 0.100 None 0
CUI: C1866141
Disease: Foot dorsiflexor weakness
Foot dorsiflexor weakness
phenotype Finding 70 4 0.100 None 0
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, DIGENIC
disease Finding 2 2 0.100 None 0 1
CUI: C1883529
Disease: Ventricular Arrhythmia, CTCAE 3.0
Ventricular Arrhythmia, CTCAE 3.0
phenotype Finding 17 0.100 None 0
CUI: C0234379
Disease: Resting Tremor
Resting Tremor
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 57 5 0.100 None 0
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: C0234146
Disease: Absent reflex
Absent reflex
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 201 16 0.100 None 0
CUI: C0239181
Disease: Intermittent diarrhea
Intermittent diarrhea
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 17 0.100 None 0
CUI: C0239831
Disease: Hand muscle weakness
Hand muscle weakness
phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Finding 14 1 0.100 None 0
Decreased motor nerve conduction velocity
phenotype Finding 41 0.100 None 0
CUI: C1850848
Disease: Muscle fiber necrosis
Muscle fiber necrosis
phenotype Pathologic Function 7 0.100 None 0
CUI: C1852197
Disease: MAJOR AFFECTIVE DISORDER 1
MAJOR AFFECTIVE DISORDER 1
disease Mental Disorders Mental or Behavioral Dysfunction 161 34 0.100 None 0
CUI: C1853767
Disease: Impaired distal vibration sensation
Impaired distal vibration sensation
phenotype Finding 10 1 0.100 None 0
CUI: C0268630
Disease: Hyper-beta-alaninemia
Hyper-beta-alaninemia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders Disease or Syndrome 33 0.100 None 0
CUI: C0267818
Disease: Bile duct proliferation
Bile duct proliferation
disease Digestive System Diseases Disease or Syndrome 30 0.100 None 0
CUI: C0267812
Disease: Micronodular cirrhosis
Micronodular cirrhosis
disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome 18 0.100 None 0
CUI: C0264162
Disease: Camptocormia
Camptocormia
disease Musculoskeletal Diseases; Nervous System Diseases Acquired Abnormality 8 2 0.100 None 0 1
CUI: C0241700
Disease: Voice Fatigue
Voice Fatigue
phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Finding 20 0.100 None 0