DisGeNET - a database of gene-disease associations

Source: ALL

Disease: Deafness ×

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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

Disease

Score _gda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	9381
Gene Symbol:	OTOF

OTOF

CUI:	C0011053
Disease:	Deafness

Deafness

0.400

Biomarker

CTD_human

A missense mutation in the conserved C2B domain of otoferlin causes deafness in a new mouse model of DFNB9.

2007

Entrez Id:	9381
Gene Symbol:	OTOF

OTOF

CUI:	C0011053
Disease:	Deafness

Deafness

0.400

CausalMutation

CLINVAR