DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: Multiple congenital anomalies ×

Variant: rs1376334317 ×

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:

rs1376334317

STAG1

CUI:	C0000772
Disease:	Multiple congenital anomalies

Multiple congenital anomalies

0.700

GeneticVariation

CLINVAR

STAG1 mutations cause a novel cohesinopathy characterised by unspecific syndromic intellectual disability.

28119487

2017

dbSNP:

rs1376334317

STAG1

CUI:	C0000772
Disease:	Multiple congenital anomalies

Multiple congenital anomalies

0.700

GeneticVariation

CLINVAR

Genome sequencing identifies major causes of severe intellectual disability.

24896178

2014

dbSNP:

rs1376334317

STAG1

CUI:	C0000772
Disease:	Multiple congenital anomalies

Multiple congenital anomalies

0.700

GeneticVariation

CLINVAR

De novo gene disruptions in children on the autistic spectrum.

22542183

2012

dbSNP:

rs1376334317

STAG1

CUI:	C0000772
Disease:	Multiple congenital anomalies

Multiple congenital anomalies

0.700

GeneticVariation

CLINVAR

Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study.

23020937

2012

dbSNP:

rs1376334317

STAG1

CUI:	C0000772
Disease:	Multiple congenital anomalies

Multiple congenital anomalies

0.700

GeneticVariation

CLINVAR

Evolution and functional impact of rare coding variation from deep sequencing of human exomes.

22604720

2012