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

The revised ghent nosology; reclassifying isolated ectopia lentis.

24635535

2015

dbSNP:

rs387906623

FBN1

0.700

GeneticVariation

CLINVAR

A microfibril assembly assay identifies different mechanisms of dominance underlying Marfan syndrome, stiff skin syndrome and acromelic dysplasias.

25979247

2015

dbSNP:

rs387906623

FBN1

0.700

GeneticVariation

CLINVAR

Increased frequency of FBN1 truncating and splicing variants in Marfan syndrome patients with aortic events.

25101912

2015

dbSNP:

rs387906623

FBN1

0.700

GeneticVariation

CLINVAR

Genotype impacts survival in Marfan syndrome.

26787436

2016