DisGeNET - a database of gene-disease associations

Source: GENOMICS_ENGLAND

Disease: Ocular albinism with congenital sensorineural deafness ×

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

Gene Full Name

DSI _g

DPI _g

pLI

Disease

Type

Score _gda

EL_gda

EI _gda

N.PMIDs

N.SNPs _gda

First Ref.

LastRef.

Entrez Id:	4286
Gene Symbol:	MITF

MITF

melanocyte inducing transcription factor

0.499

0.808

0.98

CUI:	C4750999
Disease:	Ocular albinism with congenital sensorineural deafness

Ocular albinism with congenital sensorineural deafness

disease

0.300

moderate

1.000

0

2016

2016