Type	Entity	Source evidence	Confidence	Extractor
gene	FBN1	“The causative genes linked to the Knobloch, Marfan, and Pierson syndromes are COL18A1, FBN1, and LAMB2, respectively.”	0.98	hgnc_dict_v1
phenotype	Marfan syndrome	“The prevalence of syndromic myopathies in SA, like Stickler syndrome (SS), Knobloch syndrome (KS), and Marfan syndrome (MFS), further complicates the disease spectrum.”	0.98	phenotype_alias_lexicon_v2
gene	COL18A1	“The causative genes linked to the Knobloch, Marfan, and Pierson syndromes are COL18A1, FBN1, and LAMB2, respectively.”	0.98	hgnc_dict_v1
gene	LAMB2	“The causative genes linked to the Knobloch, Marfan, and Pierson syndromes are COL18A1, FBN1, and LAMB2, respectively.”	0.98	hgnc_dict_v1

Oral Health Status in Marfan Syndrome: A Systematic Review and Meta-Analysis of 353 Cases.

PMID 35564443 | PMCID PMC9101956 | DOI 10.3390/ijerph19095048 · International journal of environmental research and public health · 2022 · 2 validated mentions

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Evidence preview

Type	Entity	Source evidence	Confidence	Extractor
gene	FBN1	“MFS patients are more prone to periodontal tissue inflammation due to the activity of FBN1 and MMPs.”	0.98	hgnc_dict_v1
phenotype	Marfan syndrome	“Oral Health Status in Marfan Syndrome: A Systematic Review and Meta-Analysis of 353 Cases.”	0.98	phenotype_alias_lexicon_v2

Exome Sequencing Identifies a Novel FBN1 Variant in a Pakistani Family with Marfan Syndrome That Includes Left Ventricle Diastolic Dysfunction.

PMID 34946863 | PMCID PMC8700962 | DOI 10.3390/genes12121915 · Genes · 2021 · 4 validated mentions

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Evidence preview

Type	Entity	Source evidence	Confidence	Extractor
gene	FBN1	“Exome Sequencing Identifies a Novel FBN1 Variant in a Pakistani Family with Marfan Syndrome That Includes Left Ventricle Diastolic Dysfunction.”	0.98	hgnc_dict_v1
phenotype	Marfan syndrome	“Exome Sequencing Identifies a Novel FBN1 Variant in a Pakistani Family with Marfan Syndrome That Includes Left Ventricle Diastolic Dysfunction.”	0.98	phenotype_alias_lexicon_v2
phenotype	cardiomyopathy	“Dilated cardiomyopathy (DCM) is a common form of cardiomyopathy that can be acquired, syndromic or non-syndromic.”	0.98	phenotype_alias_lexicon_v2
variant	c.1402A>G	“RESULTS: Through WES and sanger validation, we identified a novel variant NM_000138.4; c.1402A>G in the Fibrillin-1 (FBN1) gene that segregates with LV diastolic dysfunction and MFS.”	0.95	hgvs_regex_v1

A novel fibrillin-1 mutation in an egyptian marfan family: A proband showing nephrotic syndrome due to focal segmental glomerulosclerosis.

PMID 28098115 | DOI 10.4103/1319-2442.198166 · Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi Arabia · 2017 · 3 validated mentions

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Evidence preview

Type	Entity	Source evidence	Confidence	Extractor
gene	FBN1	“Marfan syndrome (MFS), the founding member of connective tissue disorder, is an autosomal dominant disease; it is caused by a deficiency of the microfibrillar protein fibrillin-1 (FBN1) and characterized by involvement of three main systems; skeletal, ocular, and cardiovascular.”	0.98	hgnc_dict_v1
phenotype	Marfan syndrome	“Marfan syndrome (MFS), the founding member of connective tissue disorder, is an autosomal dominant disease; it is caused by a deficiency of the microfibrillar protein fibrillin-1 (FBN1) and characterized by involvement of three main systems; skeletal, ocular, and cardiovascular.”	0.98	phenotype_alias_lexicon_v2
phenotype	nephrotic syndrome	“A novel fibrillin-1 mutation in an egyptian marfan family: A proband showing nephrotic syndrome due to focal segmental glomerulosclerosis.”	0.98	phenotype_alias_lexicon_v2

Results of fibrillin-1 gene analysis in children from inbred families with lens subluxation.

PMID 24698609 | DOI 10.1016/j.jaapos.2013.11.012 · Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus · 2014 · 4 validated mentions

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Evidence preview

Type	Entity	Source evidence	Confidence	Extractor
gene	FBN1	“BACKGROUND: Autosomal dominant mutation of the FBN1 gene (fibrillin-1) results in a spectrum of disease (type 1 fibrillopathies) ranging from Marfan syndrome with lens subluxation and cardiovascular complications to milder connective tissues phenotypes.”	0.98	hgnc_dict_v1
phenotype	Marfan syndrome	“BACKGROUND: Autosomal dominant mutation of the FBN1 gene (fibrillin-1) results in a spectrum of disease (type 1 fibrillopathies) ranging from Marfan syndrome with lens subluxation and cardiovascular complications to milder connective tissues phenotypes.”	0.98	phenotype_alias_lexicon_v2
phenotype	congenital cataract	“We report the results of routine FBN1 sequencing for children from inbred families referred with nontraumatic lens subluxation without cataract or vitreoretinal degeneration.”	0.93	phenotype_alias_lexicon_v2
population	Saudi Arabia	“Results of fibrillin-1 gene analysis in children from inbred families with lens subluxation. RESULTS: Eight identified probands (3-11 years old; 4 boys) from consanguineous and/or endogamous Saudi Arabian families all harbored FBN1 mutation--7 autosomal dominant and 1 autosomal recessive (homozygous).”	0.95	saudi_context_rules_v1