BMP4, bone morphogenetic protein 4, 652

N. diseases: 423; N. variants: 21
Disease: Polydactyly ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121912765
rs121912765
Entrez Id: 652
Gene Symbol: BMP4
BMP4
CUI: C0152427
Disease:
Polydactyly 		0.010 GeneticVariation BEFREE Using a positional candidate gene approach, we analyzed the BMP4 (Bone Morphogenetic Protein-4) gene and identified a frameshift mutation (c.226del2, p.S76fs104X) that segregated with AM, retinal dystrophy, myopia, brain anomalies, and polydactyly in a family and a nonconservative missense mutation (c.278A-->G, p.E93G) in a highly conserved base in another family. 18252212 2008