DisGeNET - a database of gene-disease associations

Branchiootorenal Syndrome 1, C4551702

Source: CURATED ×

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:

rs121909196

EYA1

0.800

CausalMutation

CLINVAR

A clinically driven variant prioritization framework outperforms purely computational approaches for the diagnostic analysis of singleton WES data.

28832562

2017

dbSNP:

rs121909196

EYA1

0.800

CausalMutation

CLINVAR

BOR-syndrome-associated Eya1 mutations lead to enhanced proteasomal degradation of Eya1 protein.

24489909

2014

dbSNP:

rs121909196

EYA1

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:

rs121909196

EYA1

0.800

CausalMutation

CLINVAR

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:

rs121909200

EYA1

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:

rs121909201

EYA1

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:

rs397517920

EYA1 ; LOC105375894

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:

rs121909196

EYA1

0.800

CausalMutation

CLINVAR

EYA1 mutations associated with the branchio-oto-renal syndrome result in defective otic development in Xenopus laevis.

19951260

2010

dbSNP:

rs121909196

EYA1

0.800

CausalMutation

CLINVAR

Branchio-oto-renal syndrome (BOR): novel mutations in the EYA1 gene, and a review of the mutational genetics of BOR.

18220287

2008

dbSNP:

rs121909196

EYA1

0.800

CausalMutation

CLINVAR

Branchio-oto-renal syndrome: the mutation spectrum in EYA1 and its phenotypic consequences.

15146463

2004

dbSNP:

rs121909196

EYA1

0.800

GeneticVariation

UNIPROT

Genetic features of hearing loss associated with ear anomalies: PDS and EYA1 mutation analysis.

11558900

2001

dbSNP:

rs121909200

EYA1

0.800

GeneticVariation

UNIPROT

Genetic features of hearing loss associated with ear anomalies: PDS and EYA1 mutation analysis.

11558900

2001

dbSNP:

rs121909201

EYA1

0.800

GeneticVariation

UNIPROT

Genetic features of hearing loss associated with ear anomalies: PDS and EYA1 mutation analysis.

11558900

2001

dbSNP:

rs397517920

EYA1 ; LOC105375894

0.800

GeneticVariation

UNIPROT

Genetic features of hearing loss associated with ear anomalies: PDS and EYA1 mutation analysis.

11558900

2001

dbSNP:

rs121909196

EYA1

0.800

GeneticVariation

UNIPROT

Mutations of a human homologue of the Drosophila eyes absent gene (EYA1) detected in patients with congenital cataracts and ocular anterior segment anomalies.

10655545

2000

dbSNP:

rs121909196

EYA1

0.800

GeneticVariation

UNIPROT

Importance of clinical evaluation and molecular testing in the branchio-oto-renal (BOR) syndrome and overlapping phenotypes.

10991693

2000

dbSNP:

rs121909200

EYA1

0.800

GeneticVariation

UNIPROT

Importance of clinical evaluation and molecular testing in the branchio-oto-renal (BOR) syndrome and overlapping phenotypes.

10991693

2000

dbSNP:

rs121909200

EYA1

0.800

GeneticVariation

UNIPROT

Mutations of a human homologue of the Drosophila eyes absent gene (EYA1) detected in patients with congenital cataracts and ocular anterior segment anomalies.

10655545

2000

dbSNP:

rs121909201

EYA1

0.800

GeneticVariation

UNIPROT

Importance of clinical evaluation and molecular testing in the branchio-oto-renal (BOR) syndrome and overlapping phenotypes.

10991693

2000

dbSNP:

rs121909201

EYA1

0.800

GeneticVariation

UNIPROT

Mutations of a human homologue of the Drosophila eyes absent gene (EYA1) detected in patients with congenital cataracts and ocular anterior segment anomalies.

10655545

2000

dbSNP:

rs397517920

EYA1 ; LOC105375894

0.800

GeneticVariation

UNIPROT

Mutations of a human homologue of the Drosophila eyes absent gene (EYA1) detected in patients with congenital cataracts and ocular anterior segment anomalies.

10655545

2000

dbSNP:

rs397517920

EYA1 ; LOC105375894

0.800

GeneticVariation

UNIPROT

Importance of clinical evaluation and molecular testing in the branchio-oto-renal (BOR) syndrome and overlapping phenotypes.

10991693

2000

dbSNP:

rs121909196

EYA1

0.800

CausalMutation

CLINVAR

Branchio-oto-renal syndrome: identification of novel mutations, molecular characterization, mutation distribution, and prospects for genetic testing.

10464653

1999

dbSNP:

rs121909196

EYA1

0.800

GeneticVariation

UNIPROT

Branchio-oto-renal syndrome: identification of novel mutations, molecular characterization, mutation distribution, and prospects for genetic testing.

10464653

1999

dbSNP:

rs121909200

EYA1

0.800

GeneticVariation

UNIPROT

Branchio-oto-renal syndrome: identification of novel mutations, molecular characterization, mutation distribution, and prospects for genetic testing.

10464653

1999