DisGeNET - a database of gene-disease associations

Multiple congenital anomalies, C0000772

Variant: rs121434407 ×

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:

rs121434407

GLE1 ; LOC101929270

0.700

GeneticVariation

CLINVAR

Expansion of the GLE1-associated arthrogryposis multiplex congenita clinical spectrum.

27684565

2017

dbSNP:

rs121434407

GLE1 ; LOC101929270

0.700

GeneticVariation

CLINVAR

Survival beyond the perinatal period expands the phenotypes caused by mutations in GLE1.

28884921

2017

dbSNP:

rs121434407

GLE1 ; LOC101929270

0.700

GeneticVariation

CLINVAR

An exome sequencing strategy to diagnose lethal autosomal recessive disorders.

24961629

2015

dbSNP:

rs121434407

GLE1 ; LOC101929270

0.700

GeneticVariation

CLINVAR

Deleterious mutations in the essential mRNA metabolism factor, hGle1, in amyotrophic lateral sclerosis.

25343993

2015

dbSNP:

rs121434407

GLE1 ; LOC101929270

0.700

GeneticVariation

CLINVAR

Hypoplasia of the spinal cord in a case of foetal akinesia/arthrogryposis sequences.

23421748

2013

dbSNP:

rs121434407

GLE1 ; LOC101929270

0.700

GeneticVariation

CLINVAR

Mutations in mRNA export mediator GLE1 result in a fetal motoneuron disease.

18204449

2008

dbSNP:

rs121434407

GLE1 ; LOC101929270

0.700

GeneticVariation

CLINVAR

A lethal autosomal recessive syndrome of multiple congenital contractures.

3993672

1985