DisGeNET - a database of gene-disease associations

BRANCHIOOTIC SYNDROME 3 (disorder), C1842124

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:

rs104894478

SIX1 ; MIR9718

0.800

GeneticVariation

UNIPROT

Structure-function analyses of the human SIX1-EYA2 complex reveal insights into metastasis and BOR syndrome.

23435380

2013

dbSNP:

rs121909770

SIX1 ; MIR9718

0.800

GeneticVariation

UNIPROT

Structure-function analyses of the human SIX1-EYA2 complex reveal insights into metastasis and BOR syndrome.

23435380

2013

dbSNP:

rs80356459

SIX1 ; MIR9718

0.800

GeneticVariation

UNIPROT

Structure-function analyses of the human SIX1-EYA2 complex reveal insights into metastasis and BOR syndrome.

23435380

2013

dbSNP:

rs104894478

SIX1 ; MIR9718

0.800

GeneticVariation

UNIPROT

Mutation screening of the EYA1, SIX1, and SIX5 genes in a large cohort of patients harboring branchio-oto-renal syndrome calls into question the pathogenic role of SIX5 mutations.

21280147

2011

dbSNP:

rs121909770

SIX1 ; MIR9718

0.800

GeneticVariation

UNIPROT

Mutation screening of the EYA1, SIX1, and SIX5 genes in a large cohort of patients harboring branchio-oto-renal syndrome calls into question the pathogenic role of SIX5 mutations.

21280147

2011

dbSNP:

rs80356459

SIX1 ; MIR9718

0.800

GeneticVariation

UNIPROT

Mutation screening of the EYA1, SIX1, and SIX5 genes in a large cohort of patients harboring branchio-oto-renal syndrome calls into question the pathogenic role of SIX5 mutations.

21280147

2011

dbSNP:

rs104894478

SIX1 ; MIR9718

0.800

GeneticVariation

UNIPROT

Biochemical and functional characterization of six SIX1 Branchio-oto-renal syndrome mutations.

19497856

2009

dbSNP:

rs121909770

SIX1 ; MIR9718

0.800

GeneticVariation

UNIPROT

Biochemical and functional characterization of six SIX1 Branchio-oto-renal syndrome mutations.

19497856

2009

dbSNP:

rs80356459

SIX1 ; MIR9718

0.800

GeneticVariation

UNIPROT

Biochemical and functional characterization of six SIX1 Branchio-oto-renal syndrome mutations.

19497856

2009

dbSNP:

rs104894478

SIX1 ; MIR9718

0.800

GeneticVariation

UNIPROT

SIX1 mutation screening in 247 branchio-oto-renal syndrome families: a recurrent missense mutation associated with BOR.

18330911

2008

dbSNP:

rs121909770

SIX1 ; MIR9718

0.800

GeneticVariation

UNIPROT

SIX1 mutation screening in 247 branchio-oto-renal syndrome families: a recurrent missense mutation associated with BOR.

18330911

2008

dbSNP:

rs80356459

SIX1 ; MIR9718

0.800

GeneticVariation

UNIPROT

SIX1 mutation screening in 247 branchio-oto-renal syndrome families: a recurrent missense mutation associated with BOR.

18330911

2008

dbSNP:

rs104894478

SIX1 ; MIR9718

0.800

GeneticVariation

UNIPROT

Branchio-oto-renal syndrome: detection of EYA1 and SIX1 mutations in five out of six Danish families by combining linkage, MLPA and sequencing analyses.

17637804

2007

dbSNP:

rs121909770

SIX1 ; MIR9718

0.800

GeneticVariation

UNIPROT

Branchio-oto-renal syndrome: detection of EYA1 and SIX1 mutations in five out of six Danish families by combining linkage, MLPA and sequencing analyses.

17637804

2007

dbSNP:

rs80356459

SIX1 ; MIR9718

0.800

GeneticVariation

UNIPROT

Branchio-oto-renal syndrome: detection of EYA1 and SIX1 mutations in five out of six Danish families by combining linkage, MLPA and sequencing analyses.

17637804

2007

dbSNP:

rs104894478

SIX1 ; MIR9718

0.800

GeneticVariation

UNIPROT

SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1-DNA complexes.

15141091

2004

dbSNP:

rs121909770

SIX1 ; MIR9718

0.800

GeneticVariation

UNIPROT

SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1-DNA complexes.

15141091

2004

dbSNP:

rs80356459

SIX1 ; MIR9718

0.800

GeneticVariation

UNIPROT

SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1-DNA complexes.

15141091

2004

dbSNP:

rs104894478

SIX1 ; MIR9718

0.800

CausalMutation

CLINVAR

dbSNP:

rs121909770

SIX1 ; MIR9718

0.800

CausalMutation

CLINVAR

dbSNP:

rs80356459

SIX1 ; MIR9718

0.800

CausalMutation

CLINVAR

dbSNP:

rs397515560

SIX1 ; MIR9718

0.700

GeneticVariation

UNIPROT

Structure-function analyses of the human SIX1-EYA2 complex reveal insights into metastasis and BOR syndrome.

23435380

2013

dbSNP:

rs397515561

SIX1 ; MIR9718

0.700

GeneticVariation

UNIPROT

Structure-function analyses of the human SIX1-EYA2 complex reveal insights into metastasis and BOR syndrome.

23435380

2013

dbSNP:

rs397515562

SIX1 ; MIR9718

0.700

GeneticVariation

UNIPROT

Structure-function analyses of the human SIX1-EYA2 complex reveal insights into metastasis and BOR syndrome.

23435380

2013

dbSNP:

rs397515560

SIX1 ; MIR9718

0.700

GeneticVariation

UNIPROT

Mutation screening of the EYA1, SIX1, and SIX5 genes in a large cohort of patients harboring branchio-oto-renal syndrome calls into question the pathogenic role of SIX5 mutations.

21280147

2011