Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		0.710 GeneticVariation disease UNIPROT Marfanoid-progeroid-lipodystrophy syndrome: a newly recognized fibrillinopathy. 26860060 2016
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		0.710 GeneticVariation disease UNIPROT Asprosin, a Fasting-Induced Glucogenic Protein Hormone. 27087445 2016
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		0.710 GeneticVariation disease UNIPROT Neonatal progeroid variant of Marfan syndrome with congenital lipodystrophy results from mutations at the 3' end of FBN1 gene. 24613577 2014
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		0.710 GeneticVariation disease UNIPROT De novo heterozygous FBN1 mutations in the extreme C-terminal region cause progeroid fibrillinopathy. 24665001 2014
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		0.710 Biomarker disease GENOMICS_ENGLAND Genome sequencing identifies major causes of severe intellectual disability. 24896178 2014
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		0.710 Biomarker disease BEFREE We propose that this marfanoid entity comprised of congenital lipodystrophy, a neonatal progeroid appearance, and a peculiar growth profile and caused by rare mutations in the penultimate exon of FBN1, be newly referred to as marfanoid-progeroid syndrome. 24039054 2013
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		0.710 GeneticVariation disease UNIPROT We propose that this marfanoid entity comprised of congenital lipodystrophy, a neonatal progeroid appearance, and a peculiar growth profile and caused by rare mutations in the penultimate exon of FBN1, be newly referred to as marfanoid-progeroid syndrome. 24039054 2013
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		0.710 GermlineCausalMutation disease ORPHANET Progeroid facial features and lipodystrophy associated with a novel splice site mutation in the final intron of the FBN1 gene. 21594993 2011
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		0.710 GeneticVariation disease UNIPROT Further evidence for a marfanoid syndrome with neonatal progeroid features and severe generalized lipodystrophy due to frameshift mutations near the 3' end of the FBN1 gene. 21594992 2011
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		0.710 GeneticVariation disease UNIPROT Progeroid facial features and lipodystrophy associated with a novel splice site mutation in the final intron of the FBN1 gene. 21594993 2011
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		0.710 GermlineCausalMutation disease ORPHANET Further evidence for a marfanoid syndrome with neonatal progeroid features and severe generalized lipodystrophy due to frameshift mutations near the 3' end of the FBN1 gene. 21594992 2011
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		0.710 Biomarker disease GENOMICS_ENGLAND FBN1 mutations in patients with descending thoracic aortic dissections. 20082464 2010
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		0.710 GeneticVariation disease UNIPROT Marfan syndrome with neonatal progeroid syndrome-like lipodystrophy associated with a novel frameshift mutation at the 3' terminus of the FBN1-gene. 20979188 2010
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		0.710 Biomarker disease GENOMICS_ENGLAND A Gly1127Ser mutation in an EGF-like domain of the fibrillin-1 gene is a risk factor for ascending aortic aneurysm and dissection. 7762551 1995
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		0.710 Biomarker disease GENOMICS_ENGLAND Clustering of fibrillin (FBN1) missense mutations in Marfan syndrome patients at cysteine residues in EGF-like domains. 1301946 1992
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		0.710 Biomarker disease CTD_human
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		0.710 GeneticVariation disease CLINVAR
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		0.710 CausalMutation disease CLINVAR