DisGeNET - a database of gene-disease associations

Source: ALL

Disease: DEAFNESS, AUTOSOMAL DOMINANT 65 ×

Variant: rs483352866 ×

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:

rs483352866

TBC1D24

CUI:	C3892048
Disease:	DEAFNESS, AUTOSOMAL DOMINANT 65

DEAFNESS, AUTOSOMAL DOMINANT 65

0.800

GeneticVariation

UNIPROT

TBC1D24 mutation causes autosomal-dominant nonsyndromic hearing loss.

24729539

2014

dbSNP:

rs483352866

TBC1D24

CUI:	C3892048
Disease:	DEAFNESS, AUTOSOMAL DOMINANT 65

DEAFNESS, AUTOSOMAL DOMINANT 65

0.800

GeneticVariation

UNIPROT

A dominant mutation in the stereocilia-expressing gene TBC1D24 is a probable cause for nonsyndromic hearing impairment.

24729547

2014

dbSNP:

rs483352866

TBC1D24

CUI:	C3892048
Disease:	DEAFNESS, AUTOSOMAL DOMINANT 65

DEAFNESS, AUTOSOMAL DOMINANT 65

0.800

CausalMutation

CLINVAR