Gene: ADGRV1

Alternate names for this Gene: FEB4|GPR98|MASS1|USH2B|USH2C|VLGR1|VLGR1b

Gene Summary: This gene encodes a member of the G-protein coupled receptor superfamily. The encoded protein contains a 7-transmembrane receptor domain, binds calcium and is expressed in the central nervous system. Mutations in this gene are associated with Usher syndrome 2 and familial febrile seizures. Several alternatively spliced transcripts have been described.

Gene is located in Chromosome: 5

Location in Chromosome : 5q14.3

Description of this Gene: adhesion G protein-coupled receptor V1

Type of Gene: protein-coding

rs4916831 in ADGRV1 gene and Atopic IgE-mediated allergic disorder PMID 28927820 2018 A novel role for ciliary function in atopy: ADGRV1 and DNAH5 interactions.

rs62374016 in ADGRV1 gene and Blood urea nitrogen measurement PMID 31152163 2019 A catalog of genetic loci associated with kidney function from analyses of a million individuals.

rs57190680 in ADGRV1 gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs7449334 in ADGRV1 gene and Chronic Obstructive Airway Disease PMID 30940143 2019 Genetic overlap of chronic obstructive pulmonary disease and cardiovascular disease-related traits: a large-scale genome-wide cross-trait analysis.

rs3105793 in ADGRV1 gene and Glycine measurement PMID 30837465 2019 Assessing the causal association of glycine with risk of cardio-metabolic diseases.

rs6860111 in ADGRV1 gene and Hair Color PMID 30531825 2018 Genome-wide study of hair colour in UK Biobank explains most of the SNP heritability.

rs7449334 in ADGRV1 gene and RESTING HEART RATE PMID 30940143 2019 Genetic overlap of chronic obstructive pulmonary disease and cardiovascular disease-related traits: a large-scale genome-wide cross-trait analysis.

rs2247419 in ADGRV1 gene and Schizophrenia PMID 26198764 2015 Genome-wide association study of schizophrenia in Ashkenazi Jews.

PMID 28991256 2017 Genome-wide association analysis identifies 30 new susceptibility loci for schizophrenia.

PMID 30285260 2019 Genome-Wide Association Study Detected Novel Susceptibility Genes for Schizophrenia and Shared Trans-Populations/Diseases Genetic Effect.

rs74501188 in ADGRV1 gene and Small cell carcinoma of lung PMID 28604730 2017 Large-scale association analysis identifies new lung cancer susceptibility loci and heterogeneity in genetic susceptibility across histological subtypes.

rs11744148 in ADGRV1 gene and Systolic Pressure PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs2443074 in ADGRV1 gene and Triglycerides measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

rs121909762 in ADGRV1 gene and Usher Syndrome PMID 14740321 2004 Mutations in the VLGR1 gene implicate G-protein signaling in the pathogenesis of Usher syndrome type II.

PMID 24154662 2014 Next generation sequencing-based molecular diagnosis of retinitis pigmentosa: identification of a novel genotype-phenotype correlation and clinical refinements.

rs1057519383 in ADGRV1 gene and Usher Syndrome, Type I PMID 21569298 2011 Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis.

rs121909762 in ADGRV1 gene and Usher syndrome, type 2C PMID 14740321 2004 Mutations in the VLGR1 gene implicate G-protein signaling in the pathogenesis of Usher syndrome type II.

PMID 26164827 2015 Multimodal Imaging of Central Retinal Disease Progression in a 2-Year Mean Follow-up of Retinitis Pigmentosa.

PMID 22147658 2012 Non-USH2A mutations in USH2 patients.

PMID 26872967 2016 Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease.