DisGeNET - a database of gene-disease associations

Leigh Syndrome due to Mitochondrial Complex III Deficiency, C1850598

Gene: UQCRQ ×

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:	27089
Gene Symbol:	UQCRQ

UQCRQ

0.300

Biomarker

disease

CLINGEN

Proteomics. Tissue-based map of the human proteome.

2015

Entrez Id:	27089
Gene Symbol:	UQCRQ

UQCRQ

0.300

Biomarker

disease

CLINGEN

Mitochondrial complex III deficiency associated with a homozygous mutation in UQCRQ.

2008