DisGeNET - a database of gene-disease associations

Source: UNIPROT

Gene: POLG ×

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

DSI _v

DPI _v

Chr

Position

Consequence

Alleles

Class

AF _EXOME

AF _GENOME

Disease

Score _vda

EI _vda

N_.PMIDs

FirstRef.

LastRef.

dbSNP:

rs113994094

POLG

0.827

0.080

89330184

missense variant

G/A

snv

1.5E-03

1.6E-03

CUI:	C4225153
Disease:	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1

PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1

0.800

1.000

2001

2006

dbSNP:

rs113994096

POLG

0.827

0.080

89325639

missense variant

G/A

snv

1.5E-03

1.6E-03

CUI:	C4225153
Disease:	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1

PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1

0.800

1.000

2001

2006

dbSNP:

rs113994098

POLG

0.742

0.320

89321792

missense variant

C/T

snv

1.5E-04

2.7E-04

CUI:	C4225153
Disease:	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1

PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1

0.800

1.000

2001

2006

dbSNP:

rs121918044

POLG

0.807

0.240

89329055

missense variant

A/C

snv

5.7E-05

3.5E-05

CUI:	C4225153
Disease:	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1

PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1

0.800

1.000

2001

2006

dbSNP:

rs121918045

POLG

1.000

89333747

missense variant

C/G

snv

CUI:	C4225153
Disease:	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1

PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1

0.800

1.000

2001

2006

dbSNP:

rs121918048

POLG

0.882

0.200

89320953

missense variant

G/A

snv

CUI:	C4225153
Disease:	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1

PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1

0.700

1.000

2001

2006

dbSNP:

rs121918053

POLG

1.000

89321777

missense variant

G/A

snv

1.2E-05

2.8E-05

CUI:	C4225153
Disease:	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1

PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1

0.700

1.000

2001

2006

dbSNP:

rs121918054

POLG

0.807

0.240

89323460

missense variant

C/G;T

snv

6.9E-04; 4.0E-06

CUI:	C4225153
Disease:	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1

PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1

0.800

1.000

2001

2006

dbSNP:

rs121918056

POLG

0.882

0.080

89330257

missense variant

G/A

snv

4.0E-06

7.0E-06

CUI:	C4225153
Disease:	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1

PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1

0.700

1.000

2001

2006

dbSNP:

rs201732356

POLG

0.807

0.240

89318737

missense variant

G/A;C

snv

8.0E-06

CUI:	C4225153
Disease:	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1

PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1

0.800

1.000

2001

2006

dbSNP:

rs2307440

POLG

1.000

89318587

missense variant

G/A

snv

1.9E-04

1.5E-04

CUI:	C4225153
Disease:	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1

PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1

0.700

1.000

2001

2006

dbSNP:

rs556925652

POLG

1.000

89325664

missense variant

G/A

snv

2.0E-05

CUI:	C4225153
Disease:	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1

PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1

0.700

1.000

2001

2006

dbSNP:

rs61752784

POLG

1.000

89330133

missense variant

C/G

snv

3.4E-03

3.6E-03

CUI:	C4225153
Disease:	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1

PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1

0.700

1.000

2001

2006

dbSNP:

rs753410045

POLG

1.000

89318710

missense variant

C/G;T

snv

2.0E-05

CUI:	C4225153
Disease:	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1

PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1

0.700

1.000

2001

2006

dbSNP:

rs763393580

POLG

1.000

89321194

missense variant

C/T

snv

4.0E-05

2.1E-05

CUI:	C4225153
Disease:	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1

PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1

0.700

1.000

2001

2006

dbSNP:

rs113994097

POLG

0.724

0.400

89323426

missense variant

C/G

snv

9.7E-04

7.9E-04

CUI:	C1843851
Disease:	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis

Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis

0.800

1.000

2003

2016

dbSNP:

rs121918046

POLG

0.925

0.160

89325520

missense variant

G/A

snv

1.4E-05

CUI:	C1843851
Disease:	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis

Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis

0.800

1.000

2003

2006

dbSNP:

rs121918048

POLG

0.882

0.200

89320953

missense variant

G/A

snv

CUI:	C1843851
Disease:	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis

Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis

0.800

1.000

2003

2006

dbSNP:

rs121918049

POLG

0.925

0.200

89319053

missense variant

C/A;G;T

snv

3.2E-05; 2.0E-05; 4.0E-06

CUI:	C1843851
Disease:	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis

Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis

0.800

1.000

2003

2006

dbSNP:

rs769827124

POLG

0.882

0.200

89322749

missense variant

G/A

snv

2.4E-05

1.4E-05

CUI:	C1843851
Disease:	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis

Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis

0.700

1.000

2003

2006

dbSNP:

rs113994094

POLG

0.827

0.080

89330184

missense variant

G/A

snv

1.5E-03

1.6E-03

CUI:	C0205710
Disease:	Alpers Syndrome (disorder)

Alpers Syndrome (disorder)

0.800

1.000

2002

2014

dbSNP:

rs113994096

POLG

0.827

0.080

89325639

missense variant

G/A

snv

1.5E-03

1.6E-03

CUI:	C0205710
Disease:	Alpers Syndrome (disorder)

Alpers Syndrome (disorder)

0.800

1.000

2003

2014

dbSNP:

rs113994097

POLG

0.724

0.400

89323426

missense variant

C/G

snv

9.7E-04

7.9E-04

CUI:	C0205710
Disease:	Alpers Syndrome (disorder)

Alpers Syndrome (disorder)

0.830

1.000

2004

2014

dbSNP:

rs113994098

POLG

0.742

0.320

89321792

missense variant

C/T

snv

1.5E-04

2.7E-04

CUI:	C0205710
Disease:	Alpers Syndrome (disorder)

Alpers Syndrome (disorder)

0.800

1.000

2002

2014

dbSNP:

rs113994099

POLG

0.827

0.240

89320883

missense variant

T/C

snv

CUI:	C1834846
Disease:	Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1

Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1

0.800

1.000

2002

2008