DisGeNET - a database of gene-disease associations

Deafness, Autosomal Recessive 53, C1864746

Variant: rs121912952 ×

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

Gene

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs121912952

COL11A2

0.800

GeneticVariation

UNIPROT

Novel mutations confirm that COL11A2 is responsible for autosomal recessive non-syndromic hearing loss DFNB53.

25633957

2015

dbSNP:

rs121912952

COL11A2

0.800

GeneticVariation

UNIPROT

Mutation of COL11A2 causes autosomal recessive non-syndromic hearing loss at the DFNB53 locus.

16033917

2005

dbSNP:

rs121912952

COL11A2

0.800

CausalMutation

CLINVAR