EBF3, EBF transcription factor 3, 253738

N. diseases: 124; N. variants: 15
Disease: Neurodevelopmental Disorders ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1535926
Disease: Neurodevelopmental Disorders
Neurodevelopmental Disorders 		0.130 Biomarker group BEFREE However, human neurodevelopmental disorders related to EBF3 have not been reported. 28017372 2017
CUI: C1535926
Disease: Neurodevelopmental Disorders
Neurodevelopmental Disorders 		0.130 GeneticVariation group BEFREE Our findings demonstrate that variants disrupting EBF3-mediated transcriptional regulation cause intellectual disability and developmental delay and are present in ∼0.1% of individuals with unexplained neurodevelopmental disorders. 28017373 2017
CUI: C1535926
Disease: Neurodevelopmental Disorders
Neurodevelopmental Disorders 		0.130 GeneticVariation group BEFREE Mutations in early B cell factor 3 (<i>EBF3</i>) were recently described in patients with a neurodevelopmental disorder (NDD) that includes developmental delay/intellectual disability, ataxia, hypotonia, speech impairment, strabismus, genitourinary abnormalities, and mild facial dysmorphisms. 29062322 2017
CUI: C1535926
Disease: Neurodevelopmental Disorders
Neurodevelopmental Disorders 		0.130 CausalMutation group CLINVAR