rs1057519521, EBF3

N. diseases: 8
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Vesico-Ureteral Reflux
CUI: C0042580
Disease: Vesico-Ureteral Reflux
0.700 CausalMutation CLINVAR
HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME
CUI: C4310618
Disease: HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME
0.700 CausalMutation CLINVAR
Constipation
CUI: C0009806
Disease: Constipation
0.700 CausalMutation CLINVAR
Recurrent urinary tract infection
CUI: C0262655
Disease: Recurrent urinary tract infection
0.700 CausalMutation CLINVAR
Growth abnormality
CUI: C0262361
Disease: Growth abnormality
0.700 CausalMutation CLINVAR
Generalized hypotonia
CUI: C1858120
Disease: Generalized hypotonia
0.700 CausalMutation CLINVAR
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
0.700 CausalMutation CLINVAR
Dysmorphic facies
CUI: C0424503
Disease: Dysmorphic facies
0.700 CausalMutation CLINVAR