USH1G, USH1 protein network component sans, 124590

N. diseases: 52; N. variants: 14
Disease: USHER SYNDROME, TYPE IG ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1847089
Disease: USHER SYNDROME, TYPE IG
USHER SYNDROME, TYPE IG 		0.920 Biomarker disease BEFREE The four USH2 proteins also interact in vitro with USH1 proteins including myosin VIIa, USH1G (SANS), CIB2 and harmonin. 28031293 2017
CUI: C1847089
Disease: USHER SYNDROME, TYPE IG
USHER SYNDROME, TYPE IG 		0.920 GeneticVariation disease BEFREE Nonsyndromic hearing loss caused by USH1G mutations: widening the USH1G disease spectrum. 25255398 2016
CUI: C1847089
Disease: USHER SYNDROME, TYPE IG
USHER SYNDROME, TYPE IG 		0.920 Biomarker disease GENOMICS_ENGLAND In USH1G patients, mutations in SANS eliminate Magi2 binding and thereby deregulate endocytosis, lead to defective ciliary transport modules and ultimately disrupt photoreceptor cell function inducing retinal degeneration. 24608321 2014
CUI: C1847089
Disease: USHER SYNDROME, TYPE IG
USHER SYNDROME, TYPE IG 		0.920 GeneticVariation disease UNIPROT The structure of the harmonin/sans complex reveals an unexpected interaction mode of the two Usher syndrome proteins. 20142502 2010
CUI: C1847089
Disease: USHER SYNDROME, TYPE IG
USHER SYNDROME, TYPE IG 		0.920 Biomarker disease MGD A core cochlear phenotype in USH1 mouse mutants implicates fibrous links of the hair bundle in its cohesion, orientation and differential growth. 18339676 2008
CUI: C1847089
Disease: USHER SYNDROME, TYPE IG
USHER SYNDROME, TYPE IG 		0.920 GeneticVariation disease UNIPROT A novel D458V mutation in the SANS PDZ binding motif causes atypical Usher syndrome. 16283141 2005
CUI: C1847089
Disease: USHER SYNDROME, TYPE IG
USHER SYNDROME, TYPE IG 		0.920 Biomarker disease MGD A quantitative survey of gravity receptor function in mutant mouse strains. 16235133 2005
CUI: C1847089
Disease: USHER SYNDROME, TYPE IG
USHER SYNDROME, TYPE IG 		0.920 GeneticVariation disease UNIPROT Usher syndrome type I G (USH1G) is caused by mutations in the gene encoding SANS, a protein that associates with the USH1C protein, harmonin. 12588794 2003
CUI: C1847089
Disease: USHER SYNDROME, TYPE IG
USHER SYNDROME, TYPE IG 		0.920 Biomarker disease MGD Ultrastructural findings in the inner ear of Jackson shaker mice. 1442008 1992
CUI: C1847089
Disease: USHER SYNDROME, TYPE IG
USHER SYNDROME, TYPE IG 		0.920 GeneticVariation disease CLINVAR
CUI: C1847089
Disease: USHER SYNDROME, TYPE IG
USHER SYNDROME, TYPE IG 		0.920 CausalMutation disease CLINVAR
CUI: C1847089
Disease: USHER SYNDROME, TYPE IG
USHER SYNDROME, TYPE IG 		0.920 Biomarker disease GENOMICS_ENGLAND
CUI: C1847089
Disease: USHER SYNDROME, TYPE IG
USHER SYNDROME, TYPE IG 		0.920 Biomarker disease CTD_human