rs111033364, USH2A

N. diseases: 7
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Usher Syndrome
CUI: C0271097
Disease: Usher Syndrome
0.720 GeneticVariation BEFREE The c.11864G>A mutation represents the vast majority of pathogenic alleles in Slovenian USH2A-Usher syndrome population (84%). 31817543 2019
Usher Syndrome
CUI: C0271097
Disease: Usher Syndrome
0.720 GeneticVariation BEFREE In particular, as regards to Usher syndrome, that affects 32% of our patients, we were able to reach a molecular diagnosis in 83% of the cases and to identify in Northern Eastern Italy a very common USH2A gene mutation (39%) (c.11864G > A, p.(Trp3955*) which can be defined "Central-Eastern European allele." 31387071 2019
Usher Syndrome
CUI: C0271097
Disease: Usher Syndrome
0.720 CausalMutation CLINVAR Microarray-based mutation analysis of 183 Spanish families with Usher syndrome. 19683999 2010
Usher Syndrome
CUI: C0271097
Disease: Usher Syndrome
0.720 CausalMutation CLINVAR Usher syndromes due to MYO7A, PCDH15, USH2A or GPR98 mutations share retinal disease mechanism. 18463160 2008
Usher Syndrome
CUI: C0271097
Disease: Usher Syndrome
0.720 CausalMutation CLINVAR Spectrum of USH2A mutations in Scandinavian patients with Usher syndrome type II. 18273898 2008
Usher Syndrome
CUI: C0271097
Disease: Usher Syndrome
0.720 CausalMutation CLINVAR Development of a genotyping microarray for Usher syndrome. 16963483 2007
Usher Syndrome
CUI: C0271097
Disease: Usher Syndrome
0.720 CausalMutation CLINVAR Identification of 51 novel exons of the Usher syndrome type 2A (USH2A) gene that encode multiple conserved functional domains and that are mutated in patients with Usher syndrome type II. 15015129 2004
Retinitis Pigmentosa
CUI: C0035334
Disease: Retinitis Pigmentosa
0.700 CausalMutation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709 2019
RETINITIS PIGMENTOSA 39 (disorder)
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
0.700 CausalMutation CLINVAR An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients. 27460420 2016
USHER SYNDROME, TYPE IIA
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
0.700 CausalMutation CLINVAR An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients. 27460420 2016
Retinitis Pigmentosa
CUI: C0035334
Disease: Retinitis Pigmentosa
0.700 CausalMutation CLINVAR Identification of 51 novel exons of the Usher syndrome type 2A (USH2A) gene that encode multiple conserved functional domains and that are mutated in patients with Usher syndrome type II. 15015129 2004
hearing impairment
CUI: C1384666
Disease: hearing impairment
0.700 CausalMutation CLINVAR
Usher syndrome type 2
CUI: C0339534
Disease: Usher syndrome type 2
0.700 CausalMutation CLINVAR
Congenital sensorineural hearing loss
CUI: C1865866
Disease: Congenital sensorineural hearing loss
0.700 CausalMutation CLINVAR