Source: CLINGEN

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 84340
Gene Symbol: GFM2
GFM2
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.310 Biomarker CLINGEN Novel GFM2 variants associated with early-onset neurological presentations of mitochondrial disease and impaired expression of OXPHOS subunits. 29075935

2017
Entrez Id: 84340
Gene Symbol: GFM2
GFM2
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.310 Biomarker CLINGEN These findings suggest that GFM2 mutations could be causative of a phenotype of Leigh syndrome with arthrogryposis multiplex congenita. 26016410

2015
Entrez Id: 84340
Gene Symbol: GFM2
GFM2
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.310 Biomarker CLINGEN Exome sequencing can improve diagnosis and alter patient management. 22700954

2012
Entrez Id: 84340
Gene Symbol: GFM2
GFM2
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.310 Biomarker CLINGEN EF-G2mt is an exclusive recycling factor in mammalian mitochondrial protein synthesis. 19716793

2009