Disease: Usher Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0271097
Disease: Usher Syndrome
Usher Syndrome 		0.200 GeneticVariation disease BEFREE Using a multi-omic approach, we identified three novel pathogenic variants in two Usher syndrome genes (USH2A and ADGRV1) in cases initially referred for isolated vision or hearing loss. 31046701 2019
CUI: C0271097
Disease: Usher Syndrome
Usher Syndrome 		0.200 GeneticVariation disease BEFREE The mutations found in our study not only broaden the mutation spectrum of ADGRV1, but also provide assistances for future genetic diagnosis and treatment for Usher syndrome patients. 29883260 2018
CUI: C0271097
Disease: Usher Syndrome
Usher Syndrome 		0.200 GeneticVariation disease BEFREE We isolated a mouse strain with hearing loss from inbred mice with retinal degeneration and established it as a recombinant inbred strain with a spontaneous mutation in Adgrv1, the human Usher syndrome 2C gene. 29961073 2018
CUI: C0271097
Disease: Usher Syndrome
Usher Syndrome 		0.200 GeneticVariation disease BEFREE In the present work, we identified two novel compound heterozygote mutations in the GPR98 (G protein-coupled receptor 98) gene causing Usher syndrome. 28951997 2017
CUI: C0271097
Disease: Usher Syndrome
Usher Syndrome 		0.200 GeneticVariation disease CLINVAR Next generation sequencing-based molecular diagnosis of retinitis pigmentosa: identification of a novel genotype-phenotype correlation and clinical refinements. 24154662 2014
CUI: C0271097
Disease: Usher Syndrome
Usher Syndrome 		0.200 GeneticVariation disease BEFREE Over the past 10 or so years, human genetics data suggested that Vlgr1 mutations cause Usher syndromes and seizures. 23180093 2013
CUI: C0271097
Disease: Usher Syndrome
Usher Syndrome 		0.200 Biomarker disease BEFREE Interaction of MEF2C with the deleted febrile seizure (FEB4) and juveline myoclonic epilepsy (EJM4) loci plus the G-protein receptor (GPR98/MASS1/Usher syndrome) gene may moderate the phenotype, perhaps through common regulation by calcium. 21567930 2011
CUI: C0271097
Disease: Usher Syndrome
Usher Syndrome 		0.200 GeneticVariation disease BEFREE Mutations in VLGRI in humans result in one form (2C) of Usher syndrome, the most common genetic cause of combined blindness and deafness. 21618827 2010
CUI: C0271097
Disease: Usher Syndrome
Usher Syndrome 		0.200 GeneticVariation disease BEFREE Consistent with these clinical findings, the five subjects with USH carried a haplotype linked to the USH2C locus, whereas the two subjects with nonsyndromic hearing loss did not. 19357116 2009
CUI: C0271097
Disease: Usher Syndrome
Usher Syndrome 		0.200 AlteredExpression disease BEFREE Disease expression in Usher syndrome caused by VLGR1 gene mutation (USH2C) and comparison with USH2A phenotype. 15671307 2005
CUI: C0271097
Disease: Usher Syndrome
Usher Syndrome 		0.200 CausalMutation disease CLINVAR Mutations in the VLGR1 gene implicate G-protein signaling in the pathogenesis of Usher syndrome type II. 14740321 2004
CUI: C0271097
Disease: Usher Syndrome
Usher Syndrome 		0.200 GeneticVariation disease BEFREE The identification of additional VLGR1 mutations to test whether a phenotype/genotype correlation exists, akin to that shown for other Usher syndrome disease genes, is warranted. 14740321 2004