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: C0086543
Disease: Cataract
Cataract 		disease Eye Diseases Acquired Abnormality 878 124 0.110 None 1.000 1 2018 2018
CUI: C0333307
Disease: Superficial ulcer
Superficial ulcer 		disease Pathological Conditions, Signs and Symptoms Acquired Abnormality 242 10 0.010 None 1.000 1 2018 2018
CUI: C0264162
Disease: Camptocormia
Camptocormia 		disease Musculoskeletal Diseases; Nervous System Diseases Acquired Abnormality 8 2 0.100 None 0 1
CUI: C4020732
Disease: Mitochondrial abnormalities
Mitochondrial abnormalities 		disease Anatomical Abnormality 83 20 0.020 None 1.000 2 2 2006 2014
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: C0018564
Disease: Hand deformities
Hand deformities 		group Musculoskeletal Diseases Anatomical Abnormality 60 2 0.100 None 0
CUI: C0039273
Disease: Talipes cavus
Talipes cavus 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Anatomical Abnormality 213 2 0.100 None 0
CUI: C4023042
Disease: Abnormality of the mitochondrion
Abnormality of the mitochondrion 		disease Anatomical Abnormality 10 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: C4024751
Disease: Abnormality of the extraocular muscles
Abnormality of the extraocular muscles 		phenotype Anatomical Abnormality 4 0.100 None 0
CUI: C4025597
Disease: Subsarcolemmal accumulations of abnormally shaped mitochondria
Subsarcolemmal accumulations of abnormally shaped mitochondria 		disease Anatomical Abnormality 6 0.100 None 0
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: C0333751
Disease: Muscle fiber atrophy
Muscle fiber atrophy 		phenotype Cell or Molecular Dysfunction 25 2 0.100 None 0
CUI: C3888962
Disease: POLG mutation
POLG mutation 		disease Congenital Abnormality 3 7 0.030 None 1.000 3 5 2014 2019
CUI: C0025958
Disease: Microcephaly
Microcephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 1064 27 0.110 None 1.000 1 2012 2012
CUI: C0345200
Disease: Congenital dysmotility of small intestine
Congenital dysmotility of small intestine 		disease Congenital Abnormality 3 0.100 None 0
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: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		group Nutritional and Metabolic Diseases Disease or Syndrome 284 84 0.500 None 0.957 46 8 2003 2020
CUI: C0162557
Disease: Liver Failure, Acute
Liver Failure, Acute 		disease Digestive System Diseases Disease or Syndrome 282 21 0.130 None 1.000 44 1 2001 2018
CUI: C0152025
Disease: Polyneuropathy
Polyneuropathy 		disease Nervous System Diseases Disease or Syndrome 156 32 0.110 None 1.000 42 1 2001 2018
CUI: C0162674
Disease: Chronic progressive external ophthalmoplegia
Chronic progressive external ophthalmoplegia 		disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 50 13 0.500 None 0.976 41 3 2002 2019
CUI: C4225153
Disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1 		disease Disease or Syndrome 1 27 0.600 None 1.000 30 27 2001 2016
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders 		group Nervous System Diseases Disease or Syndrome 373 95 0.500 None 0.952 21 3 2004 2019
CUI: C1843851
Disease: Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases Disease or Syndrome 4 15 0.760 strong 1.000 20 14 2003 2016