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: rs1057519519
rs1057519519
Entrez Id: 253738
Gene Symbol: EBF3
EBF3
CUI: C4310618
Disease:
HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME 		C 0.800 CausalMutation CLINVAR
dbSNP: rs1057519519
rs1057519519
Entrez Id: 253738
Gene Symbol: EBF3
EBF3
CUI: C4310618
Disease:
HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME 		0.800 GeneticVariation UNIPROT