DisGeNET - a database of gene-disease associations

RRM2B, ribonucleotide reductase regulatory TP53 inducible subunit M2B, 50484

N. diseases: 238; N. variants: 23

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

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _g

DPI _g

pLI

EI _gda

EL _gda

Score _gda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Disease

Score _gda

Association Type

Type

Original DB

Sentence supporting the association

PMID

PMID Year

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

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

0.300

GermlineCausalMutation

disease

ORPHANET

RRM2B mutations are frequent in familial PEO with multiple mtDNA deletions.

21646632

2011

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

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

0.300

GermlineCausalMutation

disease

ORPHANET

A heterozygous truncating mutation in RRM2B causes autosomal-dominant progressive external ophthalmoplegia with multiple mtDNA deletions.

19664747

2009