rs113994099, POLG

N. diseases: 10
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1
CUI: C1834846
Disease: Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1
13 0.827 0.240 15 89320883 missense variant T/C snv 0.800 1.000 7 2002 2008
Mitochondrial Diseases
CUI: C0751651
Disease: Mitochondrial Diseases
84 0.827 0.240 15 89320883 missense variant T/C snv 0.710 1.000 2 2007 2017
Alpers Syndrome (disorder)
CUI: C0205710
Disease: Alpers Syndrome (disorder)
128 0.827 0.240 15 89320883 missense variant T/C snv 0.700 0
Chronic progressive external ophthalmoplegia
CUI: C0162674
Disease: Chronic progressive external ophthalmoplegia
13 0.827 0.240 15 89320883 missense variant T/C snv 0.020 1.000 2 2007 2007
Parkinsonian Disorders
CUI: C0242422
Disease: Parkinsonian Disorders
95 0.827 0.240 15 89320883 missense variant T/C snv 0.020 1.000 2 2007 2013
Cardiomyopathies
CUI: C0878544
Disease: Cardiomyopathies
294 0.827 0.240 15 89320883 missense variant T/C snv 0.010 1.000 1 2007 2007
Muscle Weakness
CUI: C0151786
Disease: Muscle Weakness
87 0.827 0.240 15 89320883 missense variant T/C snv 0.010 1.000 1 2007 2007
Paresis
CUI: C0030552
Disease: Paresis
49 0.827 0.240 15 89320883 missense variant T/C snv 0.010 1.000 1 2007 2007
Parkinson Disease
CUI: C0030567
Disease: Parkinson Disease
990 0.827 0.240 15 89320883 missense variant T/C snv 0.010 1.000 1 2013 2013
POLG mutation
CUI: C3888962
Disease: POLG mutation
7 0.827 0.240 15 89320883 missense variant T/C snv 0.010 1.000 1 2007 2007