Source: ORPHANET

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C3489726
Disease: Geleophysic dysplasia
Geleophysic dysplasia 		0.700 GermlineCausalMutation ORPHANET Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias. 21683322

2011