DisGeNET - a database of gene-disease associations

RRM2B, ribonucleotide reductase regulatory TP53 inducible subunit M2B, 50484

N. diseases: 238; N. variants: 23

Disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH RENAL TUBULOPATHY) ×

Variant: rs121918308 ×

Source: ALL

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

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs121918308

Entrez Id:	50484
Gene Symbol:	RRM2B

RRM2B

CUI:	C2749861
Disease:

MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH RENAL TUBULOPATHY)

0.800

GeneticVariation

UNIPROT

Mitochondrial DNA depletion syndrome due to mutations in the RRM2B gene.

18504129

2008

dbSNP:

rs121918308

Entrez Id:	50484
Gene Symbol:	RRM2B

RRM2B

CUI:	C2749861
Disease:

MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH RENAL TUBULOPATHY)

0.800

GeneticVariation

UNIPROT

Mutation of RRM2B, encoding p53-controlled ribonucleotide reductase (p53R2), causes severe mitochondrial DNA depletion.

17486094

2007

dbSNP:

rs121918308

Entrez Id:	50484
Gene Symbol:	RRM2B

RRM2B

CUI:	C2749861
Disease:

MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH RENAL TUBULOPATHY)

0.800

CausalMutation

CLINVAR