DisGeNET - a database of gene-disease associations

PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 4, C4310733

Variant: rs144181978 ×

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

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs144181978

rs144181978

DGUOK

0.800

GeneticVariation

UNIPROT

Next-generation sequencing reveals DGUOK mutations in adult patients with mitochondrial DNA multiple deletions.

2012

dbSNP:

rs144181978

rs144181978

DGUOK

A

0.800

CausalMutation

CLINVAR