Source: CLINGEN

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 85476
Gene Symbol: GFM1
GFM1
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.310 Biomarker CLINGEN Leigh map: A novel computational diagnostic resource for mitochondrial disease. 27977873

2017
Entrez Id: 85476
Gene Symbol: GFM1
GFM1
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.310 Biomarker CLINGEN Long-term survival in a child with severe encephalopathy, multiple respiratory chain deficiency and GFM1 mutations. 25852744

2015
Entrez Id: 85476
Gene Symbol: GFM1
GFM1
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.310 Biomarker CLINGEN Infantile Progressive Hepatoencephalomyopathy with Combined OXPHOS Deficiency due to Mutations in the Mitochondrial Translation Elongation Factor Gene GFM1. 23430926

2012
Entrez Id: 85476
Gene Symbol: GFM1
GFM1
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.310 Biomarker CLINGEN The Drosophila mitochondrial translation elongation factor G1 contains a nuclear localization signal and inhibits growth and DPP signaling. 21364917

2011
Entrez Id: 85476
Gene Symbol: GFM1
GFM1
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.310 Biomarker CLINGEN The Human Protein Atlas--a tool for pathology. 18853439

2008
Entrez Id: 85476
Gene Symbol: GFM1
GFM1
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.310 Biomarker CLINGEN The EFG1-mutant patient had early-onset Leigh syndrome, whereas the EFTu-mutant patient had severe infantile macrocystic leukodystrophy with micropolygyria. 17160893

2007