DisGeNET - a database of gene-disease associations

EYA1, EYA transcriptional coactivator and phosphatase 1, 2138

N. diseases: 168; N. variants: 36

Disease: Branchiootorenal Syndrome 1 ×

Variant: rs1554615536 ×

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

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs1554615536

rs1554615536

Entrez Id:	2138
Gene Symbol:	EYA1

EYA1

CUI:	C4551702
Disease:

Branchiootorenal Syndrome 1

C

0.700

CausalMutation

CLINVAR