DisGeNET - a database of gene-disease associations

MITOCHONDRIAL DNA DEPLETION SYNDROME 3, C4310935

Gene: DGUOK ×

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

Gene

Score _gda

Association Type

Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	1716
Gene Symbol:	DGUOK

DGUOK

0.400

Biomarker

disease

GENOMICS_ENGLAND

A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathies.

2015

Entrez Id:	1716
Gene Symbol:	DGUOK

DGUOK

0.400

Biomarker

disease

GENOMICS_ENGLAND

Mitochondrial DNA depletion and dGK gene mutations.

2002

Entrez Id:	1716
Gene Symbol:	DGUOK

DGUOK

0.400

CausalMutation

disease

CLINVAR