EFL1, elongation factor like GTPase 1, 79631

N. diseases: 73; N. variants: 13
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4693704
Disease: SHWACHMAN-DIAMOND SYNDROME 2
SHWACHMAN-DIAMOND SYNDROME 2 		0.600 Biomarker disease GENOMICS_ENGLAND Further evidence for the involvement of EFL1 in a Shwachman-Diamond-like syndrome and expansion of the phenotypic features. 29970384 2018
CUI: C4693704
Disease: SHWACHMAN-DIAMOND SYNDROME 2
SHWACHMAN-DIAMOND SYNDROME 2 		0.600 GeneticVariation disease UNIPROT Mutations in EFL1, an SBDS partner, are associated with infantile pancytopenia, exocrine pancreatic insufficiency and skeletal anomalies in aShwachman-Diamond like syndrome. 28331068 2017
CUI: C4693704
Disease: SHWACHMAN-DIAMOND SYNDROME 2
SHWACHMAN-DIAMOND SYNDROME 2 		0.600 CausalMutation disease CLINVAR
CUI: C4693704
Disease: SHWACHMAN-DIAMOND SYNDROME 2
SHWACHMAN-DIAMOND SYNDROME 2 		0.600 GeneticVariation disease CLINVAR
CUI: C0272170
Disease: Shwachman syndrome
Shwachman syndrome 		0.390 Biomarker disease BEFREE However, it has recently been reported that other genes, including DnaJ heat shock protein family (Hsp40) member C21 (DNAJC21), elongation factor-like 1 (EFL1) and signal recognition particle 54 (SRP54) are also associated with an SDS-like phenotype. 30413969 2019
CUI: C0272170
Disease: Shwachman syndrome
Shwachman syndrome 		0.390 Biomarker disease BEFREE The mutual effects of Sdo1 and nucleotides on Efl1 modulate in a very specific and robust way the complex conformational landscape of Efl1, resembling the behavior observed with other GTPases and their cofactors. 30780079 2019
CUI: C0272170
Disease: Shwachman syndrome
Shwachman syndrome 		0.390 Biomarker disease BEFREE In mice, Efl1 deficiency recapitulates key aspects of the SDS phenotype. 31151987 2019
CUI: C0272170
Disease: Shwachman syndrome
Shwachman syndrome 		0.390 GeneticVariation disease BEFREE Building on the recent observation that EFL1 single-point mutations clinically manifest as SDS-like phenotype, we carried out comparative Molecular Dynamics (MD) simulations on three mutants, T127A, M882K and R1095Q and wild type EFL1. 31838967 2019
CUI: C0272170
Disease: Shwachman syndrome
Shwachman syndrome 		0.390 GeneticVariation disease BEFREE Additionally, we studied the interaction mechanism of the proteins in solution and demonstrated that binding consists of two independent and cooperative events, with domains 2⁻3 of SBDS directing the initial interaction with EFL1, followed by docking of domain 1. 30545121 2018
CUI: C0272170
Disease: Shwachman syndrome
Shwachman syndrome 		0.390 GermlineCausalMutation disease ORPHANET Similar to the molecular pathology of SDS, mutant EFL1 proteins do not promote the release of cytoplasmic Tif6 from the 60S subunit, likely preventing the formation of mature ribosomes. 28331068 2017
CUI: C0272170
Disease: Shwachman syndrome
Shwachman syndrome 		0.390 Biomarker disease BEFREE Association of EFL1 to SBDS did not modify the affinity for GTP but dramatically decreased that for GDP by increasing the dissociation rate of the nucleotide. 25991726 2015
CUI: C0272170
Disease: Shwachman syndrome
Shwachman syndrome 		0.390 Biomarker disease BEFREE Based on these observations together with those reported previously, we propose roles of EFL1 and SBDS in ribosomal maturation. 24406167 2014
CUI: C0272170
Disease: Shwachman syndrome
Shwachman syndrome 		0.390 Biomarker disease BEFREE We characterized the structural content and folding stability of the Saccharomyces cerevisiae and human EFL1 GTPases, as well as their enzymatic properties alone and in the presence of Sdo1 and SBDS, respectively. 23831625 2013
CUI: C0272170
Disease: Shwachman syndrome
Shwachman syndrome 		0.390 AlteredExpression disease BEFREE Our findings establish a direct role for SBDS and EFL1 in catalyzing the translational activation of ribosomes in all eukaryotes, and define SDS as a ribosomopathy caused by uncoupling GTP hydrolysis from eIF6 release. 21536732 2011
CUI: C0029453
Disease: Osteopenia
Osteopenia 		0.110 Biomarker disease BEFREE Moreover, EFL1 inhibited inflammation-induced bone erosion and ovariectomy-induced bone loss in mice. 28774817 2017
CUI: C0029453
Disease: Osteopenia
Osteopenia 		0.110 Biomarker disease HPO
CUI: C0021704
Disease: Intelligence
Intelligence 		0.100 GeneticVariation phenotype GWASCAT A combined analysis of genetically correlated traits identifies 187 loci and a role for neurogenesis and myelination in intelligence. 29326435 2019
CUI: C1314691
Disease: Age at menarche
Age at menarche 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0021704
Disease: Intelligence
Intelligence 		0.100 GeneticVariation phenotype GWASCAT Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function. 29844566 2018
CUI: C0021704
Disease: Intelligence
Intelligence 		0.100 GeneticVariation phenotype GWASCAT Genome-wide association meta-analysis in 269,867 individuals identifies new genetic and functional links to intelligence. 29942086 2018
CUI: C0021704
Disease: Intelligence
Intelligence 		0.100 GeneticVariation phenotype GWASCAT Large-Scale Cognitive GWAS Meta-Analysis Reveals Tissue-Specific Neural Expression and Potential Nootropic Drug Targets. 29186694 2017
CUI: C0002871
Disease: Anemia
Anemia 		0.100 Biomarker disease HPO
CUI: C0002874
Disease: Aplastic Anemia
Aplastic Anemia 		0.100 Biomarker disease HPO
CUI: C0004096
Disease: Asthma
Asthma 		0.100 GeneticVariation disease CLINVAR
CUI: C0009806
Disease: Constipation
Constipation 		0.100 GeneticVariation phenotype CLINVAR