DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: Marfan Syndrome ×

Variant: rs111929350 ×

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs111929350

FBN1

CUI:	C0024796
Disease:	Marfan Syndrome

Marfan Syndrome

0.800

GeneticVariation

CLINVAR

Genotype and phenotype analysis of 171 patients referred for molecular study of the fibrillin-1 gene FBN1 because of suspected Marfan syndrome.

11700157

2001

dbSNP:

rs111929350

FBN1

CUI:	C0024796
Disease:	Marfan Syndrome

Marfan Syndrome

0.800

GeneticVariation

CLINVAR

Molecular analysis of eight mutations in FBN1.

10647894

1999

dbSNP:

rs111929350

FBN1

CUI:	C0024796
Disease:	Marfan Syndrome

Marfan Syndrome

0.800

GeneticVariation

CLINVAR

dbSNP:

rs111929350

FBN1

CUI:	C0024796
Disease:	Marfan Syndrome

Marfan Syndrome

0.800

GeneticVariation

CLINVAR