USH1G, USH1 protein network component sans, 124590

N. diseases: 52; N. variants: 14
Disease: hearing impairment ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.620 GeneticVariation phenotype BEFREE In patients with both visual and hearing impairments, the biallelic disease-causing mutation rate was assessed for each Usher gene to propose a classification by frequency: USH2A: 50% (341/684) of patients, MYO7A: 21% (144/684), CDH23: 6% (39/684), ADGRV1: 5% (35/684), PCDH15: 3% (21/684), USH1C: 2% (17/684), CLRN1: 2% (14/684), USH1G: 1% (9/684), WHRN: 0.4% (3/684), PDZD7 0.1% (1/684), CIB2 (0/684). 30531642 2019
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.620 Biomarker phenotype CTD_human Novel digenic inheritance of PCDH15 and USH1G underlies profound non-syndromic hearing impairment. 30029624 2018
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.620 GeneticVariation phenotype BEFREE Novel digenic inheritance of PCDH15 and USH1G underlies profound non-syndromic hearing impairment. 30029624 2018
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.620 Biomarker phenotype GENOMICS_ENGLAND Phosphorylation of the Usher syndrome 1G protein SANS controls Magi2-mediated endocytosis. 24608321 2014
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.620 CausalMutation phenotype CLINVAR
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.620 GeneticVariation phenotype CLINVAR