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: C1848701
Disease: Elevated hepatic transaminase
Elevated hepatic transaminase 		phenotype Finding 212 9 0.100 None 0
CUI: C1850573
Disease: Slender build
Slender build 		phenotype Pathological Conditions, Signs and Symptoms Finding 31 2 0.100 None 0
CUI: C1850848
Disease: Muscle fiber necrosis
Muscle fiber necrosis 		phenotype Pathologic Function 7 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: C0233794
Disease: Memory impairment
Memory impairment 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 763 48 0.100 None 0
CUI: C0233565
Disease: Bradykinesia
Bradykinesia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 133 16 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: C0233417
Disease: Poor concentration
Poor concentration 		phenotype Behavior and Behavior Mechanisms Finding 5 0.100 None 0
CUI: C0232940
Disease: Secondary physiologic amenorrhea
Secondary physiologic amenorrhea 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 58 2 0.100 None 0
CUI: C0232939
Disease: Primary physiologic amenorrhea
Primary physiologic amenorrhea 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 129 10 0.100 None 0
CUI: C0232462
Disease: Decrease in appetite
Decrease in appetite 		phenotype Digestive System Diseases; Nervous System Diseases; Mental Disorders Sign or Symptom 62 7 0.100 None 0
CUI: C0231807
Disease: Dyspnea on exertion
Dyspnea on exertion 		phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Sign or Symptom 102 3 0.100 None 0
CUI: C1850496
Disease: Neuronal loss in central nervous system
Neuronal loss in central nervous system 		phenotype Finding 37 0.100 None 0
CUI: C1850415
Disease: Microvesicular hepatic steatosis
Microvesicular hepatic steatosis 		phenotype Digestive System Diseases Finding 11 0.100 None 0
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
CUI: C0241005
Disease: Creatine phosphokinase serum increased
Creatine phosphokinase serum increased 		phenotype Finding 228 43 0.100 None 0
CUI: C1848736
Disease: Distal amyotrophy
Distal amyotrophy 		disease Disease or Syndrome 106 7 0.100 None 0
CUI: C0240953
Disease: Winged scapula
Winged scapula 		phenotype Finding 73 3 0.100 None 0
CUI: C0240914
Disease: Romberg's sign positive
Romberg's sign positive 		phenotype Finding 15 6 0.100 None 0
CUI: C0240421
Disease: Progressive muscle weakness
Progressive muscle weakness 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Finding 44 15 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
CUI: C0239181
Disease: Intermittent diarrhea
Intermittent diarrhea 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 17 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