×
Entrez Id:
84059
Gene Symbol:
ADGRV1
ADGRV1
0.940
GeneticVariation
disease
BEFREE
We succeeded in identifying the deleterious, novel, and homologous variant, c.6912dupG (p.Leu2305Valfs*4 ), in the GPR98 gene (NM_032119.3) that contributes to the progression of USH2C .
29890953
2018
×
Entrez Id:
84059
Gene Symbol:
ADGRV1
ADGRV1
0.940
GeneticVariation
disease
BEFREE
Whole-exome sequencing identified the presence of two novel compound heterozygous mutations in ADGRV1 , a known gene responsible for Usher syndrome type IIC .
29883260
2018
×
Entrez Id:
84059
Gene Symbol:
ADGRV1
ADGRV1
0.940
GeneticVariation
disease
CLINVAR
Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease.
26872967
2016
×
Entrez Id:
84059
Gene Symbol:
ADGRV1
ADGRV1
0.940
Biomarker
disease
CLINGEN
Targeted exome sequencing identified two novel truncation mutations in GPR98 causing Usher syndrome.
26432996
2016
×
Entrez Id:
84059
Gene Symbol:
ADGRV1
ADGRV1
0.940
GeneticVariation
disease
CLINVAR
Multimodal Imaging of Central Retinal Disease Progression in a 2-Year Mean Follow-up of Retinitis Pigmentosa.
26164827
2015
×
Entrez Id:
84059
Gene Symbol:
ADGRV1
ADGRV1
0.940
Biomarker
disease
CLINGEN
USH2 caused by GPR98 mutation diagnosed by massively parallel sequencing in advance of the occurrence of visual symptoms.
25743181
2015
×
Entrez Id:
84059
Gene Symbol:
ADGRV1
ADGRV1
0.940
Biomarker
disease
CLINGEN
Whirlin and PDZ domain-containing 7 (PDZD7) proteins are both required to form the quaternary protein complex associated with Usher syndrome type 2.
25406310
2014
×
Entrez Id:
84059
Gene Symbol:
ADGRV1
ADGRV1
0.940
Biomarker
disease
CLINGEN
A novel mutation of the USH2C (GPR98) gene in an Iranian family with Usher syndrome type II.
25572244
2014
×
Entrez Id:
84059
Gene Symbol:
ADGRV1
ADGRV1
0.940
Biomarker
disease
CLINGEN
Regulated vesicular trafficking of specific PCDH15 and VLGR1 variants in auditory hair cells.
23035094
2012
×
Entrez Id:
84059
Gene Symbol:
ADGRV1
ADGRV1
0.940
GeneticVariation
disease
UNIPROT
Non-USH2A mutations in USH2 patients.
22147658
2012
×
Entrez Id:
84059
Gene Symbol:
ADGRV1
ADGRV1
0.940
Biomarker
disease
BEFREE
GPR98 may have been excluded from systematic investigation in previous studies, and the proportion of patients with USH2C probably underestimated.
19357117
2009
×
Entrez Id:
84059
Gene Symbol:
ADGRV1
ADGRV1
0.940
GeneticVariation
disease
BEFREE
A large deletion in GPR98 causes type IIC Usher syndrome in male and female members of an Iranian family.
19357116
2009
×
Entrez Id:
84059
Gene Symbol:
ADGRV1
ADGRV1
0.940
Biomarker
disease
CLINGEN
Vlgr1 is required for proper stereocilia maturation of cochlear hair cells.
17295842
2007
×
Entrez Id:
84059
Gene Symbol:
ADGRV1
ADGRV1
0.940
Biomarker
disease
MGD
Molecular characterization of the ankle-link complex in cochlear hair cells and its role in the hair bundle functioning.
17567809
2007
×
Entrez Id:
84059
Gene Symbol:
ADGRV1
ADGRV1
0.940
Biomarker
disease
CLINGEN
Mass spectrometry and immunoblotting were used to identify this antigen as the avian ortholog of the very large G-protein-coupled receptor VLGR1 , the product of the Usher syndrome USH2C (Mass1 ) locus.
16775142
2006
×
Entrez Id:
84059
Gene Symbol:
ADGRV1
ADGRV1
0.940
Biomarker
disease
MGD
Mass spectrometry and immunoblotting were used to identify this antigen as the avian ortholog of the very large G-protein-coupled receptor VLGR1 , the product of the Usher syndrome USH2C (Mass1 ) locus.
16775142
2006
×
Entrez Id:
84059
Gene Symbol:
ADGRV1
ADGRV1
0.940
Biomarker
disease
GENOMICS_ENGLAND
Mass spectrometry and immunoblotting were used to identify this antigen as the avian ortholog of the very large G-protein-coupled receptor VLGR1 , the product of the Usher syndrome USH2C (Mass1 ) locus.
16775142
2006
×
Entrez Id:
84059
Gene Symbol:
ADGRV1
ADGRV1
0.940
Biomarker
disease
MGD
Vlgr1 knockout mice show audiogenic seizure susceptibility.
15606908
2005
×
Entrez Id:
84059
Gene Symbol:
ADGRV1
ADGRV1
0.940
GeneticVariation
disease
CLINVAR
Mutations in the VLGR1 gene implicate G-protein signaling in the pathogenesis of Usher syndrome type II.
14740321
2004
×
Entrez Id:
84059
Gene Symbol:
ADGRV1
ADGRV1
0.940
Biomarker
disease
MGD
Loss of the transmembrane and cytoplasmic domains of the very large G-protein-coupled receptor-1 (VLGR1 or Mass1) causes audiogenic seizures in mice.
15207856
2004
×
Entrez Id:
84059
Gene Symbol:
ADGRV1
ADGRV1
0.940
Biomarker
disease
CLINGEN
Mutations in the VLGR1 gene implicate G-protein signaling in the pathogenesis of Usher syndrome type II.
14740321
2004
×
Entrez Id:
84059
Gene Symbol:
ADGRV1
ADGRV1
0.940
GeneticVariation
disease
UNIPROT
Mutations in the VLGR1 gene implicate G-protein signaling in the pathogenesis of Usher syndrome type II.
14740321
2004
×
Entrez Id:
84059
Gene Symbol:
ADGRV1
ADGRV1
0.940
Biomarker
disease
GENOMICS_ENGLAND
Prediction of the coding sequences of unidentified human genes. X. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro.
9734811
1998
×
Entrez Id:
84059
Gene Symbol:
ADGRV1
ADGRV1
0.940
Biomarker
disease
GENOMICS_ENGLAND
×
Entrez Id:
84059
Gene Symbol:
ADGRV1
ADGRV1
0.940
CausalMutation
disease
CLINVAR