EFL1, elongation factor like GTPase 1, 79631

N. diseases: 73; N. variants: 13
Disease: SHWACHMAN-DIAMOND SYNDROME 2 ×
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