rs113001196, FBN1

N. diseases: 5
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 The importance of genotype-phenotype correlation in the clinical management of Marfan syndrome. 29357934 2018
Familial thoracic aortic aneurysm and aortic dissection
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
0.700 CausalMutation CLINVAR The importance of genotype-phenotype correlation in the clinical management of Marfan syndrome. 29357934 2018
Familial thoracic aortic aneurysm and aortic dissection
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
0.700 CausalMutation CLINVAR Analysis of TGFBR1*6A variant in individuals evaluated for Marfan syndrome. 27112580 2016
Marfan Syndrome
CUI: C0024796
Disease: Marfan Syndrome
0.700 CausalMutation CLINVAR Analysis of TGFBR1*6A variant in individuals evaluated for Marfan syndrome. 27112580 2016
Multiple congenital anomalies
CUI: C0000772
Disease: Multiple congenital anomalies
0.700 CausalMutation CLINVAR Genotype impacts survival in Marfan syndrome. 26787436 2016
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
0.700 CausalMutation CLINVAR Genotype impacts survival in Marfan syndrome. 26787436 2016
Overgrowth
CUI: C1849265
Disease: Overgrowth
0.700 CausalMutation CLINVAR Genotype impacts survival in Marfan syndrome. 26787436 2016
Overgrowth
CUI: C1849265
Disease: Overgrowth
0.700 CausalMutation CLINVAR Mutations of the SLIT2-ROBO2 pathway genes SLIT2 and SRGAP1 confer risk for congenital anomalies of the kidney and urinary tract. 26026792 2015
Multiple congenital anomalies
CUI: C0000772
Disease: Multiple congenital anomalies
0.700 CausalMutation CLINVAR Mutations of the SLIT2-ROBO2 pathway genes SLIT2 and SRGAP1 confer risk for congenital anomalies of the kidney and urinary tract. 26026792 2015
Overgrowth
CUI: C1849265
Disease: Overgrowth
0.700 CausalMutation CLINVAR A microfibril assembly assay identifies different mechanisms of dominance underlying Marfan syndrome, stiff skin syndrome and acromelic dysplasias. 25979247 2015
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
0.700 CausalMutation CLINVAR FBN1 contributing to familial congenital diaphragmatic hernia. 25736269 2015
Multiple congenital anomalies
CUI: C0000772
Disease: Multiple congenital anomalies
0.700 CausalMutation CLINVAR A microfibril assembly assay identifies different mechanisms of dominance underlying Marfan syndrome, stiff skin syndrome and acromelic dysplasias. 25979247 2015
Overgrowth
CUI: C1849265
Disease: Overgrowth
0.700 CausalMutation CLINVAR Increased frequency of FBN1 truncating and splicing variants in Marfan syndrome patients with aortic events. 25101912 2015
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
0.700 CausalMutation CLINVAR Increased frequency of FBN1 truncating and splicing variants in Marfan syndrome patients with aortic events. 25101912 2015
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
0.700 CausalMutation CLINVAR The revised ghent nosology; reclassifying isolated ectopia lentis. 24635535 2015
Multiple congenital anomalies
CUI: C0000772
Disease: Multiple congenital anomalies
0.700 CausalMutation CLINVAR FBN1 contributing to familial congenital diaphragmatic hernia. 25736269 2015
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
0.700 CausalMutation CLINVAR A microfibril assembly assay identifies different mechanisms of dominance underlying Marfan syndrome, stiff skin syndrome and acromelic dysplasias. 25979247 2015
Multiple congenital anomalies
CUI: C0000772
Disease: Multiple congenital anomalies
0.700 CausalMutation CLINVAR Increased frequency of FBN1 truncating and splicing variants in Marfan syndrome patients with aortic events. 25101912 2015
Overgrowth
CUI: C1849265
Disease: Overgrowth
0.700 CausalMutation CLINVAR The revised ghent nosology; reclassifying isolated ectopia lentis. 24635535 2015
Overgrowth
CUI: C1849265
Disease: Overgrowth
0.700 CausalMutation CLINVAR FBN1 contributing to familial congenital diaphragmatic hernia. 25736269 2015
Multiple congenital anomalies
CUI: C0000772
Disease: Multiple congenital anomalies
0.700 CausalMutation CLINVAR The revised ghent nosology; reclassifying isolated ectopia lentis. 24635535 2015
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
0.700 CausalMutation CLINVAR Mutations of the SLIT2-ROBO2 pathway genes SLIT2 and SRGAP1 confer risk for congenital anomalies of the kidney and urinary tract. 26026792 2015
Overgrowth
CUI: C1849265
Disease: Overgrowth
0.700 CausalMutation CLINVAR De novo heterozygous FBN1 mutations in the extreme C-terminal region cause progeroid fibrillinopathy. 24665001 2014
Multiple congenital anomalies
CUI: C0000772
Disease: Multiple congenital anomalies
0.700 CausalMutation CLINVAR De novo heterozygous FBN1 mutations in the extreme C-terminal region cause progeroid fibrillinopathy. 24665001 2014
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
0.700 CausalMutation CLINVAR De novo heterozygous FBN1 mutations in the extreme C-terminal region cause progeroid fibrillinopathy. 24665001 2014