rs113001196, FBN1

N. diseases: 5
Disease: Dysmorphic features ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
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 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 Mutations of the SLIT2-ROBO2 pathway genes SLIT2 and SRGAP1 confer risk for congenital anomalies of the kidney and urinary tract. 26026792 2015
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
0.700 CausalMutation CLINVAR Genotype impacts survival in Marfan syndrome. 26787436 2016