Source: HPO

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 5428
Gene Symbol: POLG
POLG
DNA polymerase gamma, catalytic subunit 0.457 0.846 2.1E-09
CUI: C3696376
Disease: 3-Methylglutaconic Aciduria
3-Methylglutaconic Aciduria
disease 0.110 None 1.000 0 0 2012 2012
Entrez Id: 5428
Gene Symbol: POLG
POLG
DNA polymerase gamma, catalytic subunit 0.457 0.846 2.1E-09
CUI: C0000731
Disease: Abdomen distended
Abdomen distended
phenotype 0.100 None 0 0
Entrez Id: 5428
Gene Symbol: POLG
POLG
DNA polymerase gamma, catalytic subunit 0.457 0.846 2.1E-09
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain
phenotype 0.100 None 0 0
Entrez Id: 5428
Gene Symbol: POLG
POLG
DNA polymerase gamma, catalytic subunit 0.457 0.846 2.1E-09
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior
phenotype 0.110 None 1.000 0 0 2010 2016
Entrez Id: 5428
Gene Symbol: POLG
POLG
DNA polymerase gamma, catalytic subunit 0.457 0.846 2.1E-09
CUI: C4476793
Disease: Abnormal cell morphology
Abnormal cell morphology
phenotype 0.100 None 0 0
Entrez Id: 5428
Gene Symbol: POLG
POLG
DNA polymerase gamma, catalytic subunit 0.457 0.846 2.1E-09
Abnormal morphology of the cerebellar cortex
phenotype 0.100 None 0 0
Entrez Id: 5428
Gene Symbol: POLG
POLG
DNA polymerase gamma, catalytic subunit 0.457 0.846 2.1E-09
CUI: C0035300
Disease: Abnormal retinal morphology
Abnormal retinal morphology
phenotype 0.100 None 0 0
Entrez Id: 5428
Gene Symbol: POLG
POLG
DNA polymerase gamma, catalytic subunit 0.457 0.846 2.1E-09
Abnormal thalamic MRI signal intensity
phenotype 0.100 None 0 0
Entrez Id: 5428
Gene Symbol: POLG
POLG
DNA polymerase gamma, catalytic subunit 0.457 0.846 2.1E-09
CUI: C3665386
Disease: Abnormal vision
Abnormal vision
phenotype 0.100 None 0 0
Entrez Id: 5428
Gene Symbol: POLG
POLG
DNA polymerase gamma, catalytic subunit 0.457 0.846 2.1E-09
CUI: C0522214
Disease: Abnormal visual evoked potential
Abnormal visual evoked potential
phenotype 0.100 None 0 0
Entrez Id: 5428
Gene Symbol: POLG
POLG
DNA polymerase gamma, catalytic subunit 0.457 0.846 2.1E-09
Abnormality of central motor conduction
phenotype 0.100 None 0 0
Entrez Id: 5428
Gene Symbol: POLG
POLG
DNA polymerase gamma, catalytic subunit 0.457 0.846 2.1E-09
Abnormality of the cerebrospinal fluid
phenotype 0.100 None 0 0
Entrez Id: 5428
Gene Symbol: POLG
POLG
DNA polymerase gamma, catalytic subunit 0.457 0.846 2.1E-09
Abnormality of the extraocular muscles
phenotype 0.100 None 0 0
Entrez Id: 5428
Gene Symbol: POLG
POLG
DNA polymerase gamma, catalytic subunit 0.457 0.846 2.1E-09
CUI: C4023042
Disease: Abnormality of the mitochondrion
Abnormality of the mitochondrion
disease 0.100 None 0 0
Entrez Id: 5428
Gene Symbol: POLG
POLG
DNA polymerase gamma, catalytic subunit 0.457 0.846 2.1E-09
CUI: C0234146
Disease: Absent reflex
Absent reflex
phenotype 0.100 None 0 0
Entrez Id: 5428
Gene Symbol: POLG
POLG
DNA polymerase gamma, catalytic subunit 0.457 0.846 2.1E-09
CUI: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic
phenotype 0.130 None 1.000 0 0 2002 2009
Entrez Id: 5428
Gene Symbol: POLG
POLG
DNA polymerase gamma, catalytic subunit 0.457 0.846 2.1E-09
CUI: C0234376
Disease: Action Tremor
Action Tremor
phenotype 0.100 None 0 0
Entrez Id: 5428
Gene Symbol: POLG
POLG
DNA polymerase gamma, catalytic subunit 0.457 0.846 2.1E-09
CUI: C0002871
Disease: Anemia
Anemia
disease 0.100 None 0 0
Entrez Id: 5428
Gene Symbol: POLG
POLG
DNA polymerase gamma, catalytic subunit 0.457 0.846 2.1E-09
CUI: C0003467
Disease: Anxiety
Anxiety
disease 0.100 None 0 0
Entrez Id: 5428
Gene Symbol: POLG
POLG
DNA polymerase gamma, catalytic subunit 0.457 0.846 2.1E-09
CUI: C3887640
Disease: Astrocytosis
Astrocytosis
phenotype 0.100 None 0 0
Entrez Id: 5428
Gene Symbol: POLG
POLG
DNA polymerase gamma, catalytic subunit 0.457 0.846 2.1E-09
CUI: C0004134
Disease: Ataxia
Ataxia
phenotype 0.200 None 0.909 0 0 2004 2016
Entrez Id: 5428
Gene Symbol: POLG
POLG
DNA polymerase gamma, catalytic subunit 0.457 0.846 2.1E-09
CUI: C0750937
Disease: Ataxia, Appendicular
Ataxia, Appendicular
phenotype 0.100 None 0 0
Entrez Id: 5428
Gene Symbol: POLG
POLG
DNA polymerase gamma, catalytic subunit 0.457 0.846 2.1E-09
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation
disease 0.100 None 0 0
Entrez Id: 5428
Gene Symbol: POLG
POLG
DNA polymerase gamma, catalytic subunit 0.457 0.846 2.1E-09
CUI: C4476616
Disease: Atrophic muscularis propria
Atrophic muscularis propria
phenotype 0.100 None 0 0
Entrez Id: 5428
Gene Symbol: POLG
POLG
DNA polymerase gamma, catalytic subunit 0.457 0.846 2.1E-09
CUI: C0156312
Disease: Atrophy of testis
Atrophy of testis
disease 0.100 None 0 0