FBN1, fibrillin 1, 2200

N. diseases: 552; N. variants: 1105
Disease: Kyphosis deformity of spine ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine 		0.010 GeneticVariation phenotype BEFREE Heterozygotes for the mutant Fbn1 allele mgΔloxPneo, carrying the same internal deletion of exons 19-24 as the mgΔ mouse model, present defective microfibrillar deposition, emphysema, deterioration of aortic wall and kyphosis. 21152435 2010