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 We report results of DNA analysis with next generation sequencing (NGS) of 21 consecutive Italian patients from 17 unrelated families with clinical diagnosis of Usher syndrome (4 USH1 and 17 USH2) searching for mutations in 11 genes: MYO7A, CDH23, PCDH15, USH1C, USH1G, USH2A, ADGVR1, DFNB31, CLRN1, PDZD7, HARS. 29142287 2017
CUI: C0271097
Disease: Usher Syndrome
Usher Syndrome 		0.200 Biomarker disease BEFREE Finally, a mouse model of Usher syndrome lacking harmonin exhibits microvillar protocadherin mislocalization and severe defects in brush border morphology. 24725409 2014
CUI: C0271097
Disease: Usher Syndrome
Usher Syndrome 		0.200 GeneticVariation disease BEFREE An antisense oligonucleotide (ASO) was used to correct defective pre-mRNA splicing of transcripts from the USH1C gene with the c.216G>A mutation, which causes human Usher syndrome, the leading genetic cause of combined deafness and blindness. 23380860 2013
CUI: C0271097
Disease: Usher Syndrome
Usher Syndrome 		0.200 Biomarker disease BEFREE The structure of the harmonin/sans complex reveals an unexpected interaction mode of the two Usher syndrome proteins. 20142502 2010
CUI: C0271097
Disease: Usher Syndrome
Usher Syndrome 		0.200 Biomarker disease BEFREE Here, we have determined that mutations in PDZ domain-containing 7 (PDZD7), which encodes a homolog of proteins mutated in Usher syndrome subtype 1C (USH1C) and USH2D, contribute to Usher syndrome. 20440071 2010
CUI: C0271097
Disease: Usher Syndrome
Usher Syndrome 		0.200 Biomarker disease BEFREE One of these genes is Usher syndrome 1C (USH1C), which encodes a protein, harmonin, containing PDZ domains. 21203349 2010
CUI: C0271097
Disease: Usher Syndrome
Usher Syndrome 		0.200 Biomarker disease BEFREE Allelic mutations in harmonin and whirlin can cause both Usher syndrome (USH1C and USH2D, respectively) and congenital hearing impairment (DFNB18 and DFNB31, respectively). 19028668 2009
CUI: C0271097
Disease: Usher Syndrome
Usher Syndrome 		0.200 GeneticVariation disease BEFREE This indicates that mutations in the USH1C gene make a greater contribution to Usher syndrome type 1 than originally thought, which has implications for the genetic testing of families with Usher syndrome in the UK. 12702164 2003
CUI: C0271097
Disease: Usher Syndrome
Usher Syndrome 		0.200 GeneticVariation disease LHGDN Nonsyndromic recessive deafness DFNB18 and Usher syndrome type IC are allelic mutations of USHIC. 12107438 2002
CUI: C0271097
Disease: Usher Syndrome
Usher Syndrome 		0.200 GeneticVariation disease CLINVAR A recessive contiguous gene deletion causing infantile hyperinsulinism, enteropathy and deafness identifies the Usher type 1C gene. 10973248 2000
CUI: C0271097
Disease: Usher Syndrome
Usher Syndrome 		0.200 CausalMutation disease CLINVAR A recessive contiguous gene deletion causing infantile hyperinsulinism, enteropathy and deafness identifies the Usher type 1C gene. 10973248 2000
CUI: C0271097
Disease: Usher Syndrome
Usher Syndrome 		0.200 Biomarker disease BEFREE Usher syndrome 1C (USH1C) is a congenital condition manifesting profound hearing loss, the absence of vestibular function, and eventual retinal degeneration. 9445488 1998