rs1131691804, FBN1

N. diseases: 8
Disease: Geleophysic dysplasia ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Geleophysic dysplasia
CUI: C3489726
Disease: Geleophysic dysplasia
0.700 GeneticVariation CLINVAR Two Patients with Severe Short Stature due to a FBN1 Mutation (p.Ala1728Val) with a Mild Form of Acromicric Dysplasia. 27245183 2016
Geleophysic dysplasia
CUI: C3489726
Disease: Geleophysic dysplasia
0.700 GeneticVariation CLINVAR Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias. 21683322 2011