DisGeNET - a database of gene-disease associations

Source: CLINGEN

Disease: Auditory Neuropathy, Nonsyndromic Recessive ×

Gene: OTOF ×

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:	9381
Gene Symbol:	OTOF

OTOF

otoferlin

0.691

0.385

5.4E-39

CUI:	C1832830
Disease:	Auditory Neuropathy, Nonsyndromic Recessive

Auditory Neuropathy, Nonsyndromic Recessive

phenotype

0.500

definitive

1.000

0

1999

2014