Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 9343
Gene Symbol: EFTUD2
EFTUD2
0.410 GeneticVariation disease BEFREE We recommend consideration of EFTUD2 testing in individuals with features of oculo-auriculo-vertebral spectrum and bilateral microtia, or individuals with atypical CHARGE syndrome who do not have a CHD7 mutation, particularly those with a zygomatic arch cleft. 23239648 2013
Entrez Id: 9343
Gene Symbol: EFTUD2
EFTUD2
0.410 Biomarker disease GENOMICS_ENGLAND An evolutionarily conserved U5 snRNP-specific protein is a GTP-binding factor closely related to the ribosomal translocase EF-2. 9233818 1997
Entrez Id: 9343
Gene Symbol: EFTUD2
EFTUD2
0.410 Biomarker disease HPO