DisGeNET - a database of gene-disease associations

GIPC3, GIPC PDZ domain containing family member 3, 126326

N. diseases: 12; N. variants: 13

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

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs387906999

Entrez Id:	126326
Gene Symbol:	GIPC3

GIPC3

CUI:	C1866094
Disease:

DEAFNESS, AUTOSOMAL RECESSIVE 15

0.800

GeneticVariation

UNIPROT

Gipc3 mutations associated with audiogenic seizures and sensorineural hearing loss in mouse and human.

21326233

2011

dbSNP:

rs387906999

Entrez Id:	126326
Gene Symbol:	GIPC3

GIPC3

CUI:	C1866094
Disease:

DEAFNESS, AUTOSOMAL RECESSIVE 15

0.800

GeneticVariation

UNIPROT

Mutations of GIPC3 cause nonsyndromic hearing loss DFNB72 but not DFNB81 that also maps to chromosome 19p.

21660509

2011

dbSNP:

rs387907001

Entrez Id:	126326
Gene Symbol:	GIPC3

GIPC3

CUI:	C1866094
Disease:

DEAFNESS, AUTOSOMAL RECESSIVE 15

0.800

GeneticVariation

UNIPROT

Mutations of GIPC3 cause nonsyndromic hearing loss DFNB72 but not DFNB81 that also maps to chromosome 19p.

21660509

2011

dbSNP:

rs387907001

Entrez Id:	126326
Gene Symbol:	GIPC3

GIPC3

CUI:	C1866094
Disease:

DEAFNESS, AUTOSOMAL RECESSIVE 15

0.800

GeneticVariation

UNIPROT

Gipc3 mutations associated with audiogenic seizures and sensorineural hearing loss in mouse and human.

21326233

2011

dbSNP:

rs387907002

Entrez Id:	126326
Gene Symbol:	GIPC3

GIPC3

CUI:	C1866094
Disease:

DEAFNESS, AUTOSOMAL RECESSIVE 15

0.800

GeneticVariation

UNIPROT

Mutations of GIPC3 cause nonsyndromic hearing loss DFNB72 but not DFNB81 that also maps to chromosome 19p.

21660509

2011

dbSNP:

rs387907002

Entrez Id:	126326
Gene Symbol:	GIPC3

GIPC3

CUI:	C1866094
Disease:

DEAFNESS, AUTOSOMAL RECESSIVE 15

0.800

GeneticVariation

UNIPROT

Gipc3 mutations associated with audiogenic seizures and sensorineural hearing loss in mouse and human.

21326233

2011

dbSNP:

rs387906999

Entrez Id:	126326
Gene Symbol:	GIPC3

GIPC3

CUI:	C1866094
Disease:

DEAFNESS, AUTOSOMAL RECESSIVE 15

0.800

CausalMutation

CLINVAR

dbSNP:

rs387907001

Entrez Id:	126326
Gene Symbol:	GIPC3

GIPC3

CUI:	C1866094
Disease:

DEAFNESS, AUTOSOMAL RECESSIVE 15

0.800

CausalMutation

CLINVAR

dbSNP:

rs387907002

Entrez Id:	126326
Gene Symbol:	GIPC3

GIPC3

CUI:	C1866094
Disease:

DEAFNESS, AUTOSOMAL RECESSIVE 15

0.800

CausalMutation

CLINVAR

dbSNP:

rs1214652710

Entrez Id:	126326
Gene Symbol:	GIPC3

GIPC3

CUI:	C1866094
Disease:

DEAFNESS, AUTOSOMAL RECESSIVE 15

0.700

GeneticVariation

UNIPROT

Gipc3 mutations associated with audiogenic seizures and sensorineural hearing loss in mouse and human.

21326233

2011

dbSNP:

rs1214652710

Entrez Id:	126326
Gene Symbol:	GIPC3

GIPC3

CUI:	C1866094
Disease:

DEAFNESS, AUTOSOMAL RECESSIVE 15

0.700

GeneticVariation

UNIPROT

Mutations of GIPC3 cause nonsyndromic hearing loss DFNB72 but not DFNB81 that also maps to chromosome 19p.

21660509

2011

dbSNP:

rs761543680

Entrez Id:	126326
Gene Symbol:	GIPC3

GIPC3

CUI:	C1866094
Disease:

DEAFNESS, AUTOSOMAL RECESSIVE 15

0.700

GeneticVariation

UNIPROT

Mutations of GIPC3 cause nonsyndromic hearing loss DFNB72 but not DFNB81 that also maps to chromosome 19p.

21660509

2011

dbSNP:

rs761543680

Entrez Id:	126326
Gene Symbol:	GIPC3

GIPC3

CUI:	C1866094
Disease:

DEAFNESS, AUTOSOMAL RECESSIVE 15

0.700

GeneticVariation

UNIPROT

Gipc3 mutations associated with audiogenic seizures and sensorineural hearing loss in mouse and human.

21326233

2011

dbSNP:

rs763523474

Entrez Id:	126326
Gene Symbol:	GIPC3

GIPC3

CUI:	C1866094
Disease:

DEAFNESS, AUTOSOMAL RECESSIVE 15

0.700

GeneticVariation

UNIPROT

Gipc3 mutations associated with audiogenic seizures and sensorineural hearing loss in mouse and human.

21326233

2011

dbSNP:

rs763523474

Entrez Id:	126326
Gene Symbol:	GIPC3

GIPC3

CUI:	C1866094
Disease:

DEAFNESS, AUTOSOMAL RECESSIVE 15

0.700

GeneticVariation

UNIPROT

Mutations of GIPC3 cause nonsyndromic hearing loss DFNB72 but not DFNB81 that also maps to chromosome 19p.

21660509

2011

dbSNP:

rs1348505504

Entrez Id:	126326
Gene Symbol:	GIPC3

GIPC3

CUI:	C0018784
Disease:

Sensorineural Hearing Loss (disorder)

0.700

GeneticVariation

CLINVAR

dbSNP:

rs1466835034

Entrez Id:	126326
Gene Symbol:	GIPC3

GIPC3

CUI:	C1866094
Disease:

DEAFNESS, AUTOSOMAL RECESSIVE 15

0.700

GeneticVariation

CLINVAR

dbSNP:

rs1568278651

Entrez Id:	126326
Gene Symbol:	GIPC3

GIPC3

CUI:	C1866094
Disease:

DEAFNESS, AUTOSOMAL RECESSIVE 15

0.700

CausalMutation

CLINVAR

dbSNP:

rs1568278651

Entrez Id:	126326
Gene Symbol:	GIPC3

GIPC3

CUI:	C1384666
Disease:

hearing impairment

0.700

CausalMutation

CLINVAR

dbSNP:

rs387907000

Entrez Id:	126326
Gene Symbol:	GIPC3

GIPC3

CUI:	C1866094
Disease:

DEAFNESS, AUTOSOMAL RECESSIVE 15

0.700

CausalMutation

CLINVAR

dbSNP:

rs946085339

Entrez Id:	126326
Gene Symbol:	GIPC3

GIPC3

CUI:	C1866094
Disease:

DEAFNESS, AUTOSOMAL RECESSIVE 15

0.700

GeneticVariation

UNIPROT

dbSNP:

rs8113232

Entrez Id:	126326
Gene Symbol:	GIPC3

GIPC3

CUI:	C0043144
Disease:

Wheezing

0.010

GeneticVariation

BEFREE

However, an association between rs324011 in STAT6 with recurrent wheezing in early childhood and a suggestive association between rs8113232 in TBXA2R with rhinitis in children with asthma were observed.

22017802

2012

dbSNP:

rs8113232

Entrez Id:	126326
Gene Symbol:	GIPC3

GIPC3

CUI:	C0035455
Disease:

Rhinitis

0.010

GeneticVariation

BEFREE

22017802

2012

dbSNP:

rs8113232

Entrez Id:	126326
Gene Symbol:	GIPC3

GIPC3

CUI:	C0004096
Disease:

Asthma

0.010

GeneticVariation

BEFREE

No association was detected between the STAT6 polymorphism rs324011 or the TBXA2R polymorphisms rs8113232 and rs3786989 and asthma susceptibility.

22017802

2012

dbSNP:

rs4806942

Entrez Id:	126326
Gene Symbol:	GIPC3

GIPC3

CUI:	C0007785
Disease:

Cerebral Infarction

0.010

GeneticVariation

BEFREE

Further, the C-T-C haplotype of rs768963-rs2238634-rs4806942 was significantly more frequent in the CI group (23.0%) than in the non-CI group (17.7%).

17249521

2006