DisGeNET - a database of gene-disease associations

Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 3, C1836439

Gene: TWNK ×

Source: UNIPROT ×

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

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs111033572

TWNK

0.800

GeneticVariation

UNIPROT

TWINKLE gene mutation: report of a French family with an autosomal dominant progressive external ophthalmoplegia and literature review.

20880070

2011

dbSNP:

rs111033573

TWNK ; MRPL43

0.800

GeneticVariation

UNIPROT

TWINKLE gene mutation: report of a French family with an autosomal dominant progressive external ophthalmoplegia and literature review.

20880070

2011

dbSNP:

rs111033574

TWNK

0.800

GeneticVariation

UNIPROT

TWINKLE gene mutation: report of a French family with an autosomal dominant progressive external ophthalmoplegia and literature review.

20880070

2011

dbSNP:

rs111033575

TWNK ; MRPL43

0.800

GeneticVariation

UNIPROT

TWINKLE gene mutation: report of a French family with an autosomal dominant progressive external ophthalmoplegia and literature review.

20880070

2011

dbSNP:

rs111033576

TWNK ; MRPL43

0.800

GeneticVariation

UNIPROT

TWINKLE gene mutation: report of a French family with an autosomal dominant progressive external ophthalmoplegia and literature review.

20880070

2011

dbSNP:

rs111033577

TWNK ; MRPL43

0.800

GeneticVariation

UNIPROT

TWINKLE gene mutation: report of a French family with an autosomal dominant progressive external ophthalmoplegia and literature review.

20880070

2011

dbSNP:

rs111033579

TWNK ; MRPL43

0.800

GeneticVariation

UNIPROT

TWINKLE gene mutation: report of a French family with an autosomal dominant progressive external ophthalmoplegia and literature review.

20880070

2011

dbSNP:

rs137852956

TWNK ; MRPL43

0.800

GeneticVariation

UNIPROT

TWINKLE gene mutation: report of a French family with an autosomal dominant progressive external ophthalmoplegia and literature review.

20880070

2011

dbSNP:

rs80356543

TWNK ; MRPL43

0.800

GeneticVariation

UNIPROT

TWINKLE gene mutation: report of a French family with an autosomal dominant progressive external ophthalmoplegia and literature review.

20880070

2011

dbSNP:

rs111033572

TWNK

0.800

GeneticVariation

UNIPROT

The clinical, histochemical, and molecular spectrum of PEO1 (Twinkle)-linked adPEO.

20479361

2010

dbSNP:

rs111033573

TWNK ; MRPL43

0.800

GeneticVariation

UNIPROT

The clinical, histochemical, and molecular spectrum of PEO1 (Twinkle)-linked adPEO.

20479361

2010

dbSNP:

rs111033574

TWNK

0.800

GeneticVariation

UNIPROT

The clinical, histochemical, and molecular spectrum of PEO1 (Twinkle)-linked adPEO.

20479361

2010

dbSNP:

rs111033575

TWNK ; MRPL43

0.800

GeneticVariation

UNIPROT

The clinical, histochemical, and molecular spectrum of PEO1 (Twinkle)-linked adPEO.

20479361

2010

dbSNP:

rs111033576

TWNK ; MRPL43

0.800

GeneticVariation

UNIPROT

The clinical, histochemical, and molecular spectrum of PEO1 (Twinkle)-linked adPEO.

20479361

2010

dbSNP:

rs111033577

TWNK ; MRPL43

0.800

GeneticVariation

UNIPROT

The clinical, histochemical, and molecular spectrum of PEO1 (Twinkle)-linked adPEO.

20479361

2010

dbSNP:

rs111033579

TWNK ; MRPL43

0.800

GeneticVariation

UNIPROT

The clinical, histochemical, and molecular spectrum of PEO1 (Twinkle)-linked adPEO.

20479361

2010

dbSNP:

rs137852956

TWNK ; MRPL43

0.800

GeneticVariation

UNIPROT

The clinical, histochemical, and molecular spectrum of PEO1 (Twinkle)-linked adPEO.

20479361

2010

dbSNP:

rs80356543

TWNK ; MRPL43

0.800

GeneticVariation

UNIPROT

The clinical, histochemical, and molecular spectrum of PEO1 (Twinkle)-linked adPEO.

20479361

2010

dbSNP:

rs111033572

TWNK

0.800

GeneticVariation

UNIPROT

Finding twinkle in the eyes of a 71-year-old lady: a case report and review of the genotypic and phenotypic spectrum of TWINKLE-related dominant disease.

19353676

2009

dbSNP:

rs111033572

TWNK

0.800

GeneticVariation

UNIPROT

Molecular analysis in a family presenting with a mild form of late-onset autosomal dominant chronic progressive external ophthalmoplegia.

19428252

2009

dbSNP:

rs111033573

TWNK ; MRPL43

0.800

GeneticVariation

UNIPROT

Finding twinkle in the eyes of a 71-year-old lady: a case report and review of the genotypic and phenotypic spectrum of TWINKLE-related dominant disease.

19353676

2009

dbSNP:

rs111033573

TWNK ; MRPL43

0.800

GeneticVariation

UNIPROT

Molecular analysis in a family presenting with a mild form of late-onset autosomal dominant chronic progressive external ophthalmoplegia.

19428252

2009

dbSNP:

rs111033574

TWNK

0.800

GeneticVariation

UNIPROT

Finding twinkle in the eyes of a 71-year-old lady: a case report and review of the genotypic and phenotypic spectrum of TWINKLE-related dominant disease.

19353676

2009

dbSNP:

rs111033574

TWNK

0.800

GeneticVariation

UNIPROT

Molecular analysis in a family presenting with a mild form of late-onset autosomal dominant chronic progressive external ophthalmoplegia.

19428252

2009

dbSNP:

rs111033575

TWNK ; MRPL43

0.800

GeneticVariation

UNIPROT

Finding twinkle in the eyes of a 71-year-old lady: a case report and review of the genotypic and phenotypic spectrum of TWINKLE-related dominant disease.

19353676

2009