MYO7A, myosin VIIA, 4647

N. diseases: 104; N. variants: 194
Disease: Usher syndrome, type 1A ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2931205
Disease: Usher syndrome, type 1A
Usher syndrome, type 1A 		0.400 GeneticVariation disease BEFREE Retinal findings in pediatric patients with Usher syndrome Type 1 due to mutations in MYO7A gene. 31320737 2020
CUI: C2931205
Disease: Usher syndrome, type 1A
Usher syndrome, type 1A 		0.400 GeneticVariation disease BEFREE Targeted next generation sequencing identified a novel mutation in MYO7A causing Usher syndrome type 1 in an Iranian consanguineous pedigree. 29287847 2018
CUI: C2931205
Disease: Usher syndrome, type 1A
Usher syndrome, type 1A 		0.400 GeneticVariation disease BEFREE Identification of a novel MYO7A mutation in Usher syndrome type 1. 29416772 2018
CUI: C2931205
Disease: Usher syndrome, type 1A
Usher syndrome, type 1A 		0.400 GeneticVariation disease BEFREE A novel mutation in the MYO7A gene is associated with Usher syndrome type 1 in a Chinese family. 28688563 2017
CUI: C2931205
Disease: Usher syndrome, type 1A
Usher syndrome, type 1A 		0.400 GeneticVariation disease BEFREE Novel and recurrent MYO7A mutations in Usher syndrome type 1 and type 2. 24831256 2014
CUI: C2931205
Disease: Usher syndrome, type 1A
Usher syndrome, type 1A 		0.400 GeneticVariation disease BEFREE Mutations in the MYO7A gene are the most common cause of Usher syndrome type 1, characterized by profound congenital deafness, vestibular arreflexia, and progressive retinal degeneration. 24199935 2014
CUI: C2931205
Disease: Usher syndrome, type 1A
Usher syndrome, type 1A 		0.400 GeneticVariation disease BEFREE Novel compound heterozygous mutations in MYO7A in a Chinese family with Usher syndrome type 1. 23559863 2013
CUI: C2931205
Disease: Usher syndrome, type 1A
Usher syndrome, type 1A 		0.400 GeneticVariation disease BEFREE The finding of a MYO7A mutation in two related Hutterite families from northern Alberta provides evidence of genetic heterogeneity in Hutterites affected by Usher syndrome type I. 22690115 2012
CUI: C2931205
Disease: Usher syndrome, type 1A
Usher syndrome, type 1A 		0.400 GeneticVariation disease BEFREE Many disease-causative mutations have been identified in MYO7A and USH2A genes, which play a major role in Usher syndrome type I and type II, respectively. 20497194 2011
CUI: C2931205
Disease: Usher syndrome, type 1A
Usher syndrome, type 1A 		0.400 GeneticVariation disease BEFREE Novel mutations of MYO7A and USH1G in Israeli Arab families with Usher syndrome type 1. 22219650 2011
CUI: C2931205
Disease: Usher syndrome, type 1A
Usher syndrome, type 1A 		0.400 GeneticVariation disease BEFREE Molecular diagnosis in Usher syndrome type 1 and 2 patients led to the identification of 21 sequence variations located in noncanonical positions of splice sites in MYO7A, CDH23, USH1C, and USH2A genes. 20052763 2010
CUI: C2931205
Disease: Usher syndrome, type 1A
Usher syndrome, type 1A 		0.400 GeneticVariation disease BEFREE Mutation analysis of the MYO7A and CDH23 genes in Japanese patients with Usher syndrome type 1. 20844544 2010
CUI: C2931205
Disease: Usher syndrome, type 1A
Usher syndrome, type 1A 		0.400 Biomarker disease BEFREE Recessive mutations of MYO7A, encoding unconventional myosin VIIA, can cause either a deaf-blindness syndrome (type 1 Usher syndrome; USH1B) or nonsyndromic deafness (DFNB2). 18181211 2008
CUI: C2931205
Disease: Usher syndrome, type 1A
Usher syndrome, type 1A 		0.400 GeneticVariation disease BEFREE Mutation profile of the MYO7A gene in Spanish patients with Usher syndrome type I. 16470552 2006
CUI: C2931205
Disease: Usher syndrome, type 1A
Usher syndrome, type 1A 		0.400 Biomarker disease CTD_human Identification of a rat model for usher syndrome type 1B by N-ethyl-N-nitrosourea mutagenesis-driven forward genetics. 15965244 2005
CUI: C2931205
Disease: Usher syndrome, type 1A
Usher syndrome, type 1A 		0.400 GeneticVariation disease BEFREE Evaluation of the myosin VIIA gene and visual function in patients with Usher syndrome type I. 10930322 2000
CUI: C2931205
Disease: Usher syndrome, type 1A
Usher syndrome, type 1A 		0.400 GeneticVariation disease BEFREE Twelve novel myosin VIIA mutations in 34 patients with Usher syndrome type I: confirmation of genetic heterogeneity. 10094549 1999
CUI: C2931205
Disease: Usher syndrome, type 1A
Usher syndrome, type 1A 		0.400 GeneticVariation disease BEFREE Myosin VIIA mutation screening in 189 Usher syndrome type 1 patients. 8900236 1996