EBF3, EBF transcription factor 3, 253738

N. diseases: 124; N. variants: 15
Disease: HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs869312668
rs869312668
Entrez Id: 253738
Gene Symbol: EBF3
EBF3
CUI: C4310618
Disease:
HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME 		0.800 GeneticVariation UNIPROT De Novo Mutations in EBF3 Cause a Neurodevelopmental Syndrome. 28017370 2017
dbSNP: rs869312668
rs869312668
Entrez Id: 253738
Gene Symbol: EBF3
EBF3
CUI: C4310618
Disease:
HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME 		0.800 GeneticVariation UNIPROT Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism. 28017373 2017
dbSNP: rs869312668
rs869312668
Entrez Id: 253738
Gene Symbol: EBF3
EBF3
CUI: C4310618
Disease:
HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME 		0.800 GeneticVariation UNIPROT A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3. 28017372 2017
dbSNP: rs869312668
rs869312668
Entrez Id: 253738
Gene Symbol: EBF3
EBF3
CUI: C4310618
Disease:
HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME 		A 0.800 CausalMutation CLINVAR