DisGeNET - a database of gene-disease associations

EYA1, EYA transcriptional coactivator and phosphatase 1, 2138

N. diseases: 168; N. variants: 36

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

DSI _v

DPI _v

Chr

Position

Consequence

Alleles

Class

AF_EXOME

AF_GENOME

Disease

Disease Class

Score _vda

EI _vda

N. PMIDs

First Ref.

Last Ref.

dbSNP:

rs775097398

0.925

0.120

71216713

missense variant

T/C

snv

4.0E-06

CUI:	C0018784
Disease:	Sensorineural Hearing Loss (disorder)

Sensorineural Hearing Loss (disorder)

Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases

0.010

1.000

2019