Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C4310796
Disease: MARFAN LIPODYSTROPHY SYNDROME
MARFAN LIPODYSTROPHY SYNDROME 		0.710 GeneticVariation UNIPROT Marfanoid-progeroid-lipodystrophy syndrome: a newly recognized fibrillinopathy. 26860060

2016
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C4310796
Disease: MARFAN LIPODYSTROPHY SYNDROME
MARFAN LIPODYSTROPHY SYNDROME 		0.710 GeneticVariation UNIPROT Asprosin, a Fasting-Induced Glucogenic Protein Hormone. 27087445

2016
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C4310796
Disease: MARFAN LIPODYSTROPHY SYNDROME
MARFAN LIPODYSTROPHY SYNDROME 		0.710 GeneticVariation 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
CUI: C4310796
Disease: MARFAN LIPODYSTROPHY SYNDROME
MARFAN LIPODYSTROPHY SYNDROME 		0.710 GeneticVariation UNIPROT De novo heterozygous FBN1 mutations in the extreme C-terminal region cause progeroid fibrillinopathy. 24665001

2014
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C4310796
Disease: MARFAN LIPODYSTROPHY SYNDROME
MARFAN LIPODYSTROPHY SYNDROME 		0.710 Biomarker GENOMICS_ENGLAND Genome sequencing identifies major causes of severe intellectual disability. 24896178

2014
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C4310796
Disease: MARFAN LIPODYSTROPHY SYNDROME
MARFAN LIPODYSTROPHY SYNDROME 		0.710 Biomarker 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
CUI: C4310796
Disease: MARFAN LIPODYSTROPHY SYNDROME
MARFAN LIPODYSTROPHY SYNDROME 		0.710 GeneticVariation 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
CUI: C4310796
Disease: MARFAN LIPODYSTROPHY SYNDROME
MARFAN LIPODYSTROPHY SYNDROME 		0.710 GermlineCausalMutation 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
CUI: C4310796
Disease: MARFAN LIPODYSTROPHY SYNDROME
MARFAN LIPODYSTROPHY SYNDROME 		0.710 GeneticVariation 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
CUI: C4310796
Disease: MARFAN LIPODYSTROPHY SYNDROME
MARFAN LIPODYSTROPHY SYNDROME 		0.710 GeneticVariation 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
CUI: C4310796
Disease: MARFAN LIPODYSTROPHY SYNDROME
MARFAN LIPODYSTROPHY SYNDROME 		0.710 GermlineCausalMutation 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
CUI: C4310796
Disease: MARFAN LIPODYSTROPHY SYNDROME
MARFAN LIPODYSTROPHY SYNDROME 		0.710 Biomarker GENOMICS_ENGLAND FBN1 mutations in patients with descending thoracic aortic dissections. 20082464

2010
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C4310796
Disease: MARFAN LIPODYSTROPHY SYNDROME
MARFAN LIPODYSTROPHY SYNDROME 		0.710 GeneticVariation 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
CUI: C4310796
Disease: MARFAN LIPODYSTROPHY SYNDROME
MARFAN LIPODYSTROPHY SYNDROME 		0.710 Biomarker 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
CUI: C4310796
Disease: MARFAN LIPODYSTROPHY SYNDROME
MARFAN LIPODYSTROPHY SYNDROME 		0.710 Biomarker 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
CUI: C4310796
Disease: MARFAN LIPODYSTROPHY SYNDROME
MARFAN LIPODYSTROPHY SYNDROME 		0.710 Biomarker CTD_human

Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C4310796
Disease: MARFAN LIPODYSTROPHY SYNDROME
MARFAN LIPODYSTROPHY SYNDROME 		0.710 GeneticVariation CLINVAR

Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C4310796
Disease: MARFAN LIPODYSTROPHY SYNDROME
MARFAN LIPODYSTROPHY SYNDROME 		0.710 CausalMutation CLINVAR