rs886041001, ERF

N. diseases: 1
Disease: CHITAYAT SYNDROME ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
CHITAYAT SYNDROME
CUI: C4310679
Disease: CHITAYAT SYNDROME
0.810 GeneticVariation BEFREE Molecular analysis provides further evidence that Chitayat syndrome is caused by the recurrent p.(Tyr89Cys) pathogenic variant in the ERF gene. 30569521 2019
CHITAYAT SYNDROME
CUI: C4310679
Disease: CHITAYAT SYNDROME
0.810 CausalMutation CLINVAR
CHITAYAT SYNDROME
CUI: C4310679
Disease: CHITAYAT SYNDROME
0.810 GeneticVariation UNIPROT