DisGeNET - a database of gene-disease associations

rs886037843, POLG2;MILR1

N. diseases: 3

Disease: Depletion of mitochondrial DNA ×

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

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Depletion of mitochondrial DNA

CUI:	C0342782
Disease:	Depletion of mitochondrial DNA

0.010

GeneticVariation

BEFREE

Characterization of the human homozygous R182W POLG2 mutation in mitochondrial DNA depletion syndrome.

2018