EGF, epidermal growth factor, 1950

N. diseases: 774; N. variants: 33
Disease: Down Syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1323833193
rs1323833193
Entrez Id: 1950
Gene Symbol: EGF
EGF
CUI: C0013080
Disease:
Down Syndrome 		0.010 GeneticVariation BEFREE However, on the basis of sequence, as well as structure analysis, the variant c.973G>A(p.Glu325Lys) variant was identified only in DS having AVSD group which was predicted to have significant effects on calcium binding of putative CRELD1 protein. 29054759 2018