DisGeNET - a database of gene-disease associations

OTOFACIOCERVICAL SYNDROME 1, C3714941

Gene: EYA1 ×

Source: CURATED ×

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _g

DPI _g

pLI

EI _gda

EL _gda

Score _gda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Gene

Score _gda

Association Type

Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	2138
Gene Symbol:	EYA1

EYA1

0.420

Biomarker

disease

GENOMICS_ENGLAND

By contrast, we show here that an OFC patient bears a single-nucleotide substitution in a splice site of EYA1.

16441263

2006

Entrez Id:	2138
Gene Symbol:	EYA1

EYA1

0.420

Biomarker

disease

GENOMICS_ENGLAND

Identification of three novel mutations in human EYA1 protein associated with branchio-oto-renal syndrome.

9603436

1998

Entrez Id:	2138
Gene Symbol:	EYA1

EYA1

0.420

Biomarker

disease

GENOMICS_ENGLAND