DisGeNET - a database of gene-disease associations

Multiple congenital anomalies, C0000772

Variant: rs387906623 ×

Source: ALL

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

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs387906623

FBN1

0.700

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:

rs387906623

FBN1

0.700

GeneticVariation

CLINVAR

Mutation in fibrillin-1 and the Marfanoid-craniosynostosis (Shprintzen-Goldberg) syndrome.

8563763

1996

dbSNP:

rs387906623

FBN1

0.700

GeneticVariation

CLINVAR

Fibrillin-1 (FBN1) mutations in patients with thoracic aortic aneurysms.

8941093

1996

dbSNP:

rs387906623

FBN1

0.700

GeneticVariation

CLINVAR

Fibrillin, a new 350-kD glycoprotein, is a component of extracellular microfibrils.

3536967

1986