DisGeNET - a database of gene-disease associations

rs371086981, GJB2

N. diseases: 2

Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) ×

Source: ALL

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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

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)

CUI:	C2673759
Disease:	DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)

0.700

GeneticVariation

CLINVAR

Asymmetric configurations and N-terminal rearrangements in connexin26 gap junction channels.

21094651

2011

DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)

CUI:	C2673759
Disease:	DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)

0.700

GeneticVariation

CLINVAR

Human connexin26 (GJB2) deafness mutations affect the function of gap junction channels at different levels of protein expression.

12189493

2002

DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)

CUI:	C2673759
Disease:	DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)

0.700

GeneticVariation

CLINVAR