rs80338903, USH2A

N. diseases: 25
Disease: Usher Syndrome ×
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
0.700 CausalMutation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709 2019
Usher Syndrome
CUI: C0271097
Disease: Usher Syndrome
0.700 CausalMutation CLINVAR Mutational spectrum in Usher syndrome type II. 15025721 2004
Usher Syndrome
CUI: C0271097
Disease: Usher Syndrome
0.700 CausalMutation CLINVAR Genetic analysis of 2299delG and C759F mutations (USH2A) in patients with visual and/or auditory impairments. 14970843 2004
Usher Syndrome
CUI: C0271097
Disease: Usher Syndrome
0.700 CausalMutation CLINVAR Mutations in myosin VIIA (MYO7A) and usherin (USH2A) in Spanish patients with Usher syndrome types I and II, respectively. 12112664 2002
Usher Syndrome
CUI: C0271097
Disease: Usher Syndrome
0.700 CausalMutation CLINVAR A common ancestral origin of the frequent and widespread 2299delG USH2A mutation. 11402400 2001
Usher Syndrome
CUI: C0271097
Disease: Usher Syndrome
0.700 CausalMutation CLINVAR Genomic structure and identification of novel mutations in usherin, the gene responsible for Usher syndrome type IIa. 10729113 2000
Usher Syndrome
CUI: C0271097
Disease: Usher Syndrome
0.700 CausalMutation CLINVAR Identification of novel USH2A mutations: implications for the structure of USH2A protein. 10909849 2000
Usher Syndrome
CUI: C0271097
Disease: Usher Syndrome
0.700 CausalMutation CLINVAR Mutation of a gene encoding a protein with extracellular matrix motifs in Usher syndrome type IIa. 9624053 1998