rs1131691804, FBN1

N. diseases: 8
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
Nasal bridge wide
CUI: C1849367
Disease: Nasal bridge wide
0.700 GeneticVariation CLINVAR
Relative macrocephaly
CUI: C1849075
Disease: Relative macrocephaly
0.700 GeneticVariation CLINVAR
Short stature
CUI: C0349588
Disease: Short stature
0.700 GeneticVariation CLINVAR
Metaphyseal chondrodysplasia
CUI: C0265290
Disease: Metaphyseal chondrodysplasia
0.700 CausalMutation CLINVAR
Macrostomia
CUI: C0024433
Disease: Macrostomia
0.700 GeneticVariation CLINVAR
Acromicric Dysplasia
CUI: C0265287
Disease: Acromicric Dysplasia
0.010 GeneticVariation BEFREE Two Patients with Severe Short Stature due to a FBN1 Mutation (p.Ala1728Val) with a Mild Form of Acromicric Dysplasia. 27245183 2016
Dwarfism
CUI: C0013336
Disease: Dwarfism
0.010 GeneticVariation BEFREE Two Patients with Severe Short Stature due to a FBN1 Mutation (p.Ala1728Val) with a Mild Form of Acromicric Dysplasia. 27245183 2016