FBLN1, fibulin 1, 2192

N. diseases: 83; N. variants: 3
Disease: Limb Deformities, Congenital ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0206762
Disease: Limb Deformities, Congenital
Limb Deformities, Congenital 		0.010 GeneticVariation group BEFREE Based on these findings, we propose that the t(12;22) results in haploinsufficiency of the FBLN1-D variant, which could lead to the observed limb malformations. 11836357 2002