DisGeNET - a database of gene-disease associations

Source: CLINGEN

Disease: Nonsyndromic Deafness ×

Gene: GRXCR2 ×

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

Disease

Score _gda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	643226
Gene Symbol:	GRXCR2

GRXCR2

CUI:	C3711374
Disease:	Nonsyndromic Deafness

Nonsyndromic Deafness

0.300

Biomarker

CLINGEN

Grxcr2 is required for stereocilia morphogenesis in the cochlea.

30157177

2018

Entrez Id:	643226
Gene Symbol:	GRXCR2

GRXCR2

CUI:	C3711374
Disease:	Nonsyndromic Deafness

Nonsyndromic Deafness

0.300

Biomarker

CLINGEN

GRXCR2 Regulates Taperin Localization Critical for Stereocilia Morphology and Hearing.

30380417

2018

Entrez Id:	643226
Gene Symbol:	GRXCR2

GRXCR2

CUI:	C3711374
Disease:	Nonsyndromic Deafness

Nonsyndromic Deafness

0.300

Biomarker

CLINGEN

A frameshift mutation in GRXCR2 causes recessively inherited hearing loss.

24619944

2014