rs193922185, FBN1

N. diseases: 10
Disease: Marfan Syndrome ×
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
0.710 GeneticVariation BEFREE Individuals with p.R650C predominantly have EL, but do have risk for aortic dilation at ages later than typical for Marfan syndrome in general and for cysteine changes specifically. 28941062 2017
Marfan Syndrome
CUI: C0024796
Disease: Marfan Syndrome
0.710 CausalMutation CLINVAR Early onset ectopia lentis due to a FBN1 mutation with non-penetrance. 25900864 2015
Marfan Syndrome
CUI: C0024796
Disease: Marfan Syndrome
0.710 CausalMutation CLINVAR Ectopia lentis as the presenting and primary feature in Marfan syndrome. 21932315 2011
Marfan Syndrome
CUI: C0024796
Disease: Marfan Syndrome
0.710 CausalMutation CLINVAR Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international study. 17701892 2007
Marfan Syndrome
CUI: C0024796
Disease: Marfan Syndrome
0.710 CausalMutation CLINVAR Fibrillin-1 misfolding and disease. 16677079 2006
Marfan Syndrome
CUI: C0024796
Disease: Marfan Syndrome
0.710 CausalMutation CLINVAR The molecular genetics of Marfan syndrome and related disorders. 16571647 2006
Marfan Syndrome
CUI: C0024796
Disease: Marfan Syndrome
0.710 CausalMutation CLINVAR Consequences of cysteine mutations in calcium-binding epidermal growth factor modules of fibrillin-1. 15161917 2004
Marfan Syndrome
CUI: C0024796
Disease: Marfan Syndrome
0.710 CausalMutation CLINVAR Epidermal growth factor. Location of disulfide bonds. 4750422 1973
Marfan Syndrome
CUI: C0024796
Disease: Marfan Syndrome
0.710 GeneticVariation CLINVAR