Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME
0.700 GeneticVariation disease UNIPROT De Novo Mutations in EBF3 Cause a Neurodevelopmental Syndrome. 28017370 2017
HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME
0.700 GeneticVariation disease UNIPROT A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3. 28017372 2017
HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME
0.700 GeneticVariation disease UNIPROT Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism. 28017373 2017
HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME
0.700 GeneticVariation disease CLINVAR
HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME
0.700 Biomarker disease GENOMICS_ENGLAND
HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME
0.700 Biomarker disease CTD_human
HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME
0.700 Biomarker disease GENOMICS_ENGLAND
HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME
0.700 CausalMutation disease CLINVAR