Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 253738
Gene Symbol: EBF3
EBF3
CUI: C0038379
Disease: Strabismus
Strabismus 		0.110 GeneticVariation 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
Entrez Id: 253738
Gene Symbol: EBF3
EBF3
CUI: C0038379
Disease: Strabismus
Strabismus 		0.110 CausalMutation CLINVAR A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3. 28017372

2017
Entrez Id: 253738
Gene Symbol: EBF3
EBF3
CUI: C0038379
Disease: Strabismus
Strabismus 		0.110 Biomarker HPO