rs794728208, FBN1

N. diseases: 8
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Marfan Syndrome
CUI: C0024796
Disease: Marfan Syndrome
0.700 CausalMutation CLINVAR Next-generation sequencing of 32 genes associated with hereditary aortopathies and related disorders of connective tissue in a cohort of 199 patients. 30675029 2019
Acromicric Dysplasia
CUI: C0265287
Disease: Acromicric Dysplasia
0.700 CausalMutation CLINVAR
MARFAN LIPODYSTROPHY SYNDROME
CUI: C4310796
Disease: MARFAN LIPODYSTROPHY SYNDROME
0.700 CausalMutation CLINVAR
Stiff Skin Syndrome
CUI: C1861456
Disease: Stiff Skin Syndrome
0.700 CausalMutation CLINVAR
OVERLAP CONNECTIVE TISSUE DISEASE
CUI: C1858556
Disease: OVERLAP CONNECTIVE TISSUE DISEASE
0.700 CausalMutation CLINVAR
Weill-Marchesani Syndrome, Autosomal Dominant
CUI: C1869115
Disease: Weill-Marchesani Syndrome, Autosomal Dominant
0.700 CausalMutation CLINVAR
ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT
CUI: C3541518
Disease: ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT
0.700 CausalMutation CLINVAR
Marfan Syndrome
CUI: C0024796
Disease: Marfan Syndrome
0.700 GeneticVariation CLINVAR
GELEOPHYSIC DYSPLASIA 2
CUI: C3280054
Disease: GELEOPHYSIC DYSPLASIA 2
0.700 CausalMutation CLINVAR