FBN1, fibrillin 1, 2200

N. diseases: 552; N. variants: 1105
Disease: Familial (FPAH) ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.040 Biomarker disease BEFREE FBN1 contributing to familial congenital diaphragmatic hernia. 25736269 2015
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.040 GeneticVariation disease BEFREE Mutations in FBN1 cause a range of overlapping but distinct conditions including Marfan syndrome (MFS), Weill-Marchesani syndrome (WMS), familial thoracic aortic aneurysms/dissections (FTAAD), acromicric dysplasia (AD), and geleophysic dysplasia (GD). 23897642 2013
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.040 GeneticVariation disease BEFREE FBN1 mutations can also cause other phenotypes, such as ectopia lentis (EL) and familial isolated thoracic aortic aneurysm and dissection (FAA). 11826022 2002
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.040 Biomarker disease BEFREE This study investigated the potential association of structural genes encoding for extracellular matrix components of FBN1, elastin, and one of the polypeptides of type-I collagen (COL1A2) with familial adolescent idiopathic scoliosis. 8982144 1996