GFM1, G elongation factor mitochondrial 1, 85476

N. diseases: 74; N. variants: 9
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0037284
Disease: Skin lesion
Skin lesion
0.010 Biomarker group BEFREE Five-point check-list: 1) visible sun damaged skin on exposed areas (red and brown to black macules and crusts on visible skin); 2) more than 20 nevi on the arms; 3) one or more ABCD positive lesions (flat, large and asymmetric macules); 4) one or more EFG positive lesions (elevated, firm and growing skin lesions); 5) a pigmented lesion larger than 1.5 cm in diameter. 28209049 2019
Cataract, Congenital, Cerulean Type, 2
0.010 AlteredExpression disease BEFREE Relative gene expression levels of EFG1, UME6, HGC1 and ECE1 were all downregulated after CUR-PDT, with fold-decrease of 6.865, 3.382, 2.167 and 6.887 in ATCC 90028, 2.466, 2.146, 1.627 and 3.102 in CCA1, and 5.406, 2.347, 2.073and 3.711 in CCA2 (p < 0.05). 31233886 2019
CUI: C0007133
Disease: Carcinoma, Papillary
Carcinoma, Papillary
0.010 Biomarker disease BEFREE - To detect histologic and molecular differences separating NIFTP from follicular adenomas (FAs) and invasive carcinomas, particularly papillary carcinomas with extensive follicular growth (PTC-EFGs) and invasive encapsulated PTC-FV (IE-PTC-FV). 29582677 2018
CUI: C0205647
Disease: Follicular adenoma
Follicular adenoma
0.010 Biomarker disease BEFREE - To detect histologic and molecular differences separating NIFTP from follicular adenomas (FAs) and invasive carcinomas, particularly papillary carcinomas with extensive follicular growth (PTC-EFGs) and invasive encapsulated PTC-FV (IE-PTC-FV). 29582677 2018
CUI: C0474808
Disease: Follicular neoplasm
Follicular neoplasm
0.010 GeneticVariation disease BEFREE - The morphologic similarity and RAS mutations in FAs, NIFTPs, and IE-PTC-FVs supports the genetic similarity of those follicular neoplasms in contrast to the unique presence of BRAF V600E mutations in PTC-EFGs. 29582677 2018
Thyroid Gland Noninvasive Follicular Neoplasm with Papillary-Like Nuclear Features
0.010 Biomarker disease BEFREE - To detect histologic and molecular differences separating NIFTP from follicular adenomas (FAs) and invasive carcinomas, particularly papillary carcinomas with extensive follicular growth (PTC-EFGs) and invasive encapsulated PTC-FV (IE-PTC-FV). 29582677 2018
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung
0.010 Biomarker disease BEFREE HB-EGF Is a Promising Therapeutic Target for Lung Cancer with Secondary Mutation of <i>EGFR<sup>T790M</sup></i>. 28668882 2017
Congenital Disorders of Glycosylation
0.010 GeneticVariation group BEFREE While exome sequencing was negative for CDG related candidate genes, the testing revealed compound heterozygous mutations in the mitochondrial elongation factor G gene (GFM1). 28216230 2017
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
0.010 Biomarker disease BEFREE HB-EGF Is a Promising Therapeutic Target for Lung Cancer with Secondary Mutation of <i>EGFR<sup>T790M</sup></i>. 28668882 2017
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung
0.010 Biomarker disease BEFREE HB-EGF Is a Promising Therapeutic Target for Lung Cancer with Secondary Mutation of <i>EGFR<sup>T790M</sup></i>. 28668882 2017
CUI: C0038364
Disease: Stomatitis, Denture
Stomatitis, Denture
0.010 Biomarker disease BEFREE Using an established model of DS in immunocompetent animals, the purpose of this study was to determine the role of biofilm formation in mucosal damage during pathogenesis using C. albicans or mutants defective in morphogenesis (efg1-/-) or biofilm formation (bcr1-/-). 27453977 2016
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms
0.010 Biomarker group BEFREE The short isoform of CD97, known as EGF(1,2,5), has been shown to promote invasion and metastasis, but its role in gliomas and GBM-derived brain tumor initiating cells (BTICs) has not been studied. 25714433 2015
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
0.010 Biomarker disease BEFREE The short isoform of CD97, known as EGF(1,2,5), has been shown to promote invasion and metastasis, but its role in gliomas and GBM-derived brain tumor initiating cells (BTICs) has not been studied. 25714433 2015
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme
0.010 Biomarker disease BEFREE The short isoform of CD97, known as EGF(1,2,5), has been shown to promote invasion and metastasis, but its role in gliomas and GBM-derived brain tumor initiating cells (BTICs) has not been studied. 25714433 2015
CUI: C0014175
Disease: Endometriosis
Endometriosis
0.010 GeneticVariation disease BEFREE This is the first study correlating the EFG +61 G/A polymorphism and endometriosis in women from Brazil, and demonstrates that EFG +61 G/A is not associated with endometriosis susceptibility in Brazilian women. 25222228 2014
CUI: C0302592
Disease: Cervix carcinoma
Cervix carcinoma
0.010 Biomarker disease BEFREE The development and metastasis of cervical carcinoma are closely related to epidermal growth factor (EGF) and EGF-1 receptor (EGFR). 24567178 2014
CUI: C0750952
Disease: Biliary Tract Cancer
Biliary Tract Cancer
0.010 GeneticVariation disease BEFREE Eight loci were identified for Gab1 (4), EGFR (3), and EGF (1) as the target single-nucleotide polymorphisms (SNPs) for the association of gene polymorphisms and BTC. 25217982 2014
CUI: C0085605
Disease: Liver Failure
Liver Failure
0.010 GeneticVariation disease BEFREE We report two novel GFM1 mutations in two unrelated patients with encephalopathy and liver failure respectively. 21986555 2012
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME
0.010 Biomarker group BEFREE Before the approval of hypomethylating agents in this indication, the GFM conducted a multicenter phase II trial testing the efficacy and tolerance of bevacizumab, a humanized monoclonal antibody against VEGF, in MDS with excess of marrow blasts and its impact on bone marrow angiogenesis. 21553011 2012
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases
0.010 GeneticVariation group BEFREE The OXPHOS system defects and the impairment in mitochondrial translation in fibroblasts were rescued by overexpressing wild-type GFM1, establishing the GFM1 defect as the cause of the fatal mitochondrial disease. 21119709 2011
Myelodysplastic Syndrome with Isolated del(5q)
0.010 GeneticVariation disease BEFREE Treatment by Lenalidomide in lower risk myelodysplastic syndrome with 5q deletion--the GFM experience. 21715006 2011
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis
0.010 Biomarker disease BEFREE Increased EFG- and PDGFalpha-receptor signaling by mutant FGF-receptor 2 contributes to osteoblast dysfunction in Apert craniosynostosis. 20124286 2010
CUI: C0266464
Disease: Polymicrogyria
Polymicrogyria
0.010 GeneticVariation disease BEFREE The EFG1-mutant patient had early-onset Leigh syndrome, whereas the EFTu-mutant patient had severe infantile macrocystic leukodystrophy with micropolygyria. 17160893 2007
CUI: C0023895
Disease: Liver diseases
Liver diseases
0.010 GeneticVariation group BEFREE Here we have investigated the molecular basis for tissue specificity in patients with a fatal hepatopathy due to mutations in the mitochondrial translation elongation factor EFG1. 16632485 2006
CUI: C0001486
Disease: Adenovirus Infections
Adenovirus Infections
0.010 AlteredExpression group BEFREE We used non-invasive optical imaging of firefly luciferase to repeatedly monitor, in living animals, the ability of sCAR-EGF (i) to "transductionally untarget" systemically administered Ad.CMVfLuc, an adenovirus that constitutively expresses luciferase, from normal tissues and (ii) to "transductionally redirect" adenovirus infection in mice to xenograft tumors that express elevated epidermal growth factor (EGF) receptor levels. 15564150 2005