Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057519437
rs1057519437
EBF3
CUI: C0856863
Disease: Broad-based gait
Broad-based gait 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1057519437
rs1057519437
EBF3
CUI: C1836830
Disease: Developmental regression
Developmental regression 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1057519437
rs1057519437
EBF3
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1057519437
rs1057519437
EBF3
CUI: C0005697
Disease: Neurogenic Urinary Bladder
Neurogenic Urinary Bladder 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1057519437
rs1057519437
EBF3
CUI: C0266313
Disease: Allanson Pantzar McLeod syndrome
Allanson Pantzar McLeod syndrome 		T 0.700 CausalMutation CLINVAR